Author	Year	PMID	Exome Capture Kit	Sequence Platform	Case Number	Control Number	Sample Description	Familial or Sporadic	Ancestry	Amino Acid Change	Mutation Type	Annotation	De novo?	PoluPhen-2	Gene	Position	SIFT
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.C30S	SNV	missense	de novo	Probably damaging	PLCL2	chr3:17051253; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.R1081H	SNV	missense	de novo	Probably damaging	WDR11	chr10:122664879; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.G539R	SNV	missense	de novo	Probably damaging	DPYD	chr1:97981407; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.G202R	SNV	missense	de novo	Probably damaging	OR4C46	chr11:51515885; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.L32M	SNV	missense	de novo	Probably damaging	UGT1A3	chr2:234637866; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.Y147C	SNV	missense	de novo	Probably damaging	FAM3D	chr3:58622886; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.S45C	SNV	missense	de novo	Probably damaging	KLF12	chr13:74289537; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.S1020G	SNV	missense	de novo	Probably damaging	ADCY7	chr16:50349011; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.T102I	SNV	missense	de novo	Probably damaging	GPR153	chr1:6314661; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.T75M	SNV	missense	de novo	Probably damaging	PML	chr15:74290439; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.E512K	SNV	missense	de novo	Probably damaging	SLC26A8	chr6:35927251; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.N105S	SNV	missense	de novo	Probably damaging	CCDC108	chr2:219900235; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.H678R	SNV	missense	de novo	Probably damaging	TRAK1	chr3:42261055; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.A413G	SNV	missense	de novo	Probably damaging	FASTKD5	chr20:3128479; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.P429R	SNV	missense	de novo	Probably damaging	DGCR2	chr22:1902868; absent in 1000 Genomes Project	-
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.Y170C	SNV	missense	de novo	Probably damaging	ACOT6	chr14:74086428; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.R217W	SNV	missense/splice	de novo	Probably damaging	PITPNM1	chr11:67267884; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.G231S	SNV	missense/splice	de novo	Possibly damaging	NPRL2	chr3:50385987; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.T256S	SNV	missense	de novo	Unknown	MAGEC1	chrX:140993957; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.I295F	SNV	missense	de novo	Unknown	TRRAP	chr7:98498329; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.S152F	SNV	missense/splice	de novo	Unknown	COL3A1	chr2:189851792; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.V294I	SNV	missense	de novo	Benign	GIF	chr11:59603474; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.I237T	SNV	missense	de novo	Benign	TEKT5	chr16:10783119; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.E605K	SNV	missense	de novo	Benign	THBS1	chr15:39881442; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.V29I	SNV	missense	de novo	Benign	PAG1	chr8:81905378; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.P518L	SNV	missense	de novo	Benign	RGS12	chr4:3429844; absent in 1000 Genomes Project	Damaging
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.G274S	SNV	missense	de novo	Benign	SAP30BP	chr17:73702542; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.S410N	SNV	missense	de novo	Benign	ZNF530	chr19:58118122; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.N796S	SNV	missense	de novo	Benign	MTOR	chr1:11293489; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.A80V	SNV	missense	de novo	Benign	INPP5A	chr10:134463942; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.Y469H	SNV	missense	de novo	Benign	EDEM2	chr20:33703457; absent in 1000 Genomes Project	Tolerated
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	-	SNV	splice	de novo	-	VPS35	chr16:46705610; absent in 1000 Genomes Project	-
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	-	SNV	splice	de novo	-	ADAMTS3	chr4:73185683; absent in 1000 Genomes Project	-
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	p.L625N	SNV	missense	de novo	Probably damaging	GPR115	chr6:47682855; absent in 1000 Genomes Project	-
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	-	Indel	amino acid deletion	de novo	Damaging	SPATA5	chr4:123855728; absent in 1000 Genomes Project	-
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	-	Indel	frameshift deletion	de novo	Damaging	RB1CC1	chr8:53568705; absent in 1000 Genomes Project	-
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	-	Indel	frameshift deletion	de novo	Damaging	LAMA2	chr6:129835668; absent in 1000 Genomes Project	-
Xu	2011	21822266	Agilent SureSelect Human All Exon Target Enrichment System	Illumina paired-end	53 trios	22 trios	proband diagnosed with schizophrenia with unaffected parents	Sporadic family	European	-	Indel	frameshift deletion	de novo	Damaging	ESAM	chr11:124626163; absent in 1000 Genomes Project	-
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R628C	SNV	missense	NA	benign	KL	chr13:33635098; 5/2780 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.G404R	SNV	missense	NA	Probably damaging	ZNF554	chr19:2834443; 4/2780 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.H20R	SNV	missense	NA	benign	EPB41L1	chr20:34782170; 4/2777 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Tolerated
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.T134M	SNV	missense	NA	Probably damaging	RAB17	chr2:238485934; 4/2781 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.D624Y	SNV	missense	NA	Probably damaging	TRPM2	chr21:45815372; 4/2780 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R194W	SNV	missense	NA	Probably damaging	PCSK9	chr1:55518007; 3/2782 in cases; 0/2119 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R52X	SNV	nonsense	NA	-	BCDO2	chr11:112050168; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	-
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R106H	SNV	missense	NA	-	SLC1A2	chr11:35333962; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R97H	SNV	missense	NA	Probably damaging	GPRC5A	chr12:13061473; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	-	SNV	splice	NA	-	SERINC4	chr15:44087935; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	-
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.Y179X	SNV	nonsense	NA	-	C1QTNF8	chr16:1143723; 3/2777 in cases; 0/2120 in controls; 0/5368 in NHLBI Exome-Sequenced Cohort	Tolerated
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R254H	SNV	missense	NA	Probably damaging	STX4	chr16:31050920; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Tolerated
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.G2114R	SNV	missense	NA	Probably damaging	HYDIN	chr16:70986368; 3/2782 in cases; 0/2120 in controls; 0/4650 in NHLBI Exome-Sequenced Cohort	Tolerated
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R170X	SNV	nonsense	NA	-	KCNAB3	chr17:7829031; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Tolerated
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R138Q	SNV	missense	NA	Probably damaging	YJEFN3	chr19:19645937; 3/2782 in cases; 0/2120 in controls; 0/5167 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.Q110X	SNV	nonsense	NA	-	KIR3DL3	chr19:55349288; 3/2775 in cases; 0/2116 in controls; 0/5264 in NHLBI Exome-Sequenced Cohort	-
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.E2833Q	SNV	missense	NA	Probably damaging	BIRC6	chr2:32724726; 3/2758 in cases; 0/2091 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R707H	SNV	missense	NA	Probably damaging	BOC	chr3:112998770; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R109C	SNV	missense	NA	benign	HHATL	chr3:42739729; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.M2023L	SNV	missense	NA	Probably damaging	ROS1	chr6:117638356; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.R305X	SNV	nonsense	NA	-	GUSB	chr7:65439688; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Tolerated
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.V2803I	SNV	missense	NA	-	PCLO	chr7:82581655; 3/2727 in cases; 0/2071 in controls; 0/5032 in NHLBI Exome-Sequenced Cohort	Damaging
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.G723V	SNV	missense	NA	benign	ABCB4	chr7:87053265; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Tolerated
Need	2012	22863191	Agilent SureSelect Human All Exon	Illumina GAII or HiSeq	166 + 2617	307 +1800	schziophrenia with treatment-resistant or strong family history	Sporadic	mainly African and European	p.A1221D	SNV	missense	NA	Probably damaging	ZNF804B	chr7:88965958; 3/2782 in cases; 0/2120 in controls; 0/5379 in NHLBI Exome-Sequenced Cohort	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	KLHL17	chr1:899318	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	TMEM201	chr1:9661297	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	EPHA2	chr1:16458218	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R398X	SNV	missense	de novo	-	NIPAL3	chr1:24795646	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	codon-insertion	de novo	-	EPB41	chr1:29344918	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q934X	SNV	missense	de novo	-	HIVEP3	chr1:42049410	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R803X	SNV	missense	de novo	-	LPHN2	chr1:82433818	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R80X	SNV	missense	de novo	-	TAF13	chr1:109607282	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	TAF13	chr1:109617626	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	MOV10	chr1:113242568	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	POGZ	chr1:151377574	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	DARC	chr1:159175611	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	PIK3C2B	chr1:204438839	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	RASSF5	chr1:206757974	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	codon-deletion	de novo	-	EML6	chr2:54952277	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R2884X	SNV	missense	de novo	-	ALMS1	chr2:73717739	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y639X	SNV	missense	de novo	-	NEB	chr2:152548856	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	splice	de novo	-	SCN2A	chr2:166187838	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	TLK1	chr2:171902751	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	NCKIPSD	chr3:48719561	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R38X	SNV	missense	de novo	-	PHF7	chr3:52448529	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	splice	de novo	-	CNTN3	chr3:74334644	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R119X	SNV	missense	de novo	-	TRH	chr3:129695685	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.W47X	SNV	missense	de novo	-	PAQR9	chr3:142682039	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	YTHDC1	chr4:69202841	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	nonsense	de novo	-	NIPBL	chr5:37064898	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	ATG12	chr5:115173428	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	nonsense	de novo	-	PCDHAC2	chr5:140346499	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	PRRC2A	chr6:31605070	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.W65X	SNV	missense	de novo	-	BTNL2	chr6:32372949	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K446X	SNV	missense	de novo	-	UFL1	chr6:96990826	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	AKD1	chr6:109954110	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.W2788X	SNV	missense	de novo	-	TNRC18	chr7:5415815	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R385X	SNV	missense	de novo	-	DAGLB	chr7:6452471	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	codon-insertion	de novo	-	NUPL2	chr7:23221811	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	CLCN1	chr7:143013326	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	KIAA1429	chr8:95523667	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	codon-insertion	de novo	-	ARRDC1	chr9:140509155	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	ZMYND11	chr10:294362	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R936X	SNV	missense	de novo	-	ZEB1	chr10:31815671	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M1V	SNV	missense	de novo	-	PSAP	chr10:73610978	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y527X	SNV	missense	de novo	-	CUZD1	chr10:124593258	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R372X	SNV	missense	de novo	-	MKI67	chr10:129909975	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E648X	SNV	missense	de novo	-	ZDHHC5	chr11:57466850	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	codon-deletion	de novo	-	PCNXL3	chr11:65391969	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	splice	de novo	-	DLG2	chr11:83194295	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.X488X	SNV	missense	de novo	-	HSPA8	chr11:122929399	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	BCAT1	chr12:24989507	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	codon-insertion	de novo	-	SLC4A8	chr12:51844742	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	SMARCC2	chr12:56566768	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	XPOT	chr12:64841907	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R188X	SNV	missense	de novo	-	EPYC	chr12:91365717	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R374X	SNV	missense	de novo	-	PSPC1	chr13:20356705	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	codon-insertion	de novo	-	ITM2B	chr13:48830432	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	KLHDC1	chr14:50159920	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	HSP90AA1	chr14:102550757	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	DUOXA2	chr15:45406827	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	VPS13C	chr15:62266509	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	NR2E3	chr15:72104389	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	codon-deletion	de novo	-	C17orf97	chr17:263585	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	DNAH9	chr17:11806168	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R166X	SNV	missense	de novo	-	TP53I13	chr17:27899058	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	codon-deletion	de novo	-	BAIAP2	chr17:79089626	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	ZNF407	chr18:72775784	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	GTPBP3	chr19:17450270	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E617X	SNV	missense	de novo	-	ZNF607	chr19:38189180	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	splice	de novo	-	MARK4	chr19:45800933	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	SHANK1	chr19:51171670	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K253X	SNV	missense	de novo	-	MGME1	chr20:17968834	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	splice	de novo	-	MYH7B	chr20:33588493	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R368X	SNV	missense	de novo	-	ITSN1	chr21:35144424	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	MIF	chr22:24236689	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E1108X	SNV	missense	de novo	-	TTC28	chr22:28497254	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	-	SNV	frameshift	de novo	-	NAP1L2	chrX:72434103	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R351W	SNV	missense	de novo	Probably damaging	DVL1	chr1:1274965	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.H743Y	SNV	missense	de novo	benign	ESPN	chr1:6512058	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T975I	SNV	missense	de novo	Probably damaging	EMC1	chr1:19545852	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D708G	SNV	missense	de novo	Possibly damaging	LUZP1	chr1:23418632	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V172M	SNV	missense	de novo	Probably damaging	NIPAL3	chr1:24795646	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E533K	SNV	missense	de novo	Possibly damaging	EXTL1	chr1:26360265	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R86W	SNV	missense	de novo	Probably damaging	NR0B2	chr1:27240176	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A258G	SNV	missense	de novo	benign	PTAFR	chr1:28476760	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M104T	SNV	missense	de novo	Probably damaging	YARS	chr1:33276261	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M247T	SNV	missense	de novo	benign	PHC2	chr1:33794548	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V440M	SNV	missense	de novo	benign	PHC2	chr1:33820513	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D2110G	SNV	missense	de novo	benign	CSMD2	chr1:34071483	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T272M	SNV	missense	de novo	benign	CLSPN	chr1:36228012	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V270M	SNV	missense	de novo	Probably damaging	THRAP3	chr1:36752639	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I733M	SNV	missense	de novo	benign	CCDC30	chr1:43119546	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S1585P	SNV	missense	de novo	Probably damaging	PTPRF	chr1:44085065	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V328I	SNV	missense	de novo	benign	PIK3R3	chr1:46512257	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R199Q	SNV	missense	de novo	Possibly damaging	TTC4	chr1:55194020	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P570L	SNV	missense	de novo	benign	DNAJC6	chr1:65858354	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P372R	SNV	missense	de novo	Probably damaging	LPHN2	chr1:82433818	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M300T	SNV	missense	de novo	Probably damaging	LPAR3	chr1:85279692	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.C12S	SNV	missense	de novo	Probably damaging	ZNF326	chr1:90463687	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R279W	SNV	missense	de novo	Possibly damaging	RPL5	chr1:93307363	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G79S	SNV	missense	de novo	Possibly damaging	MYBPHL	chr1:109840239	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A277T	SNV	missense	de novo	benign	SLC6A17	chr1:110719326	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I194S	SNV	missense	de novo	-	PDE4DIP	chr1:144931128	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L574S	SNV	missense	de novo	Probably damaging	DCST1	chr1:155020573	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R164H	SNV	missense	de novo	benign	ASH1L	chr1:155452170	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R36C	SNV	missense	de novo	Probably damaging	INSRR	chr1:156824075	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R608C	SNV	missense	de novo	Probably damaging	ARHGEF11	chr1:156918274	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V216A	SNV	missense	de novo	benign	FCGR3B	chr1:161594360	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T88I	SNV	missense	de novo	Possibly damaging	PBX1	chr1:164532546	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R1555P	SNV	missense	de novo	Probably damaging	PRRC2C	chr1:171511275	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R226C	SNV	missense	de novo	Probably damaging	KLHL20	chr1:173720981	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.N48S	SNV	missense	de novo	benign	SOAT1	chr1:179304780	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T1720A	SNV	missense	de novo	Probably damaging	TPR	chr1:186303481	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D245G	SNV	missense	de novo	benign	KIF14	chr1:200587118	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D979G	SNV	missense	de novo	benign	CACNA1S	chr1:201031189	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V83I	SNV	missense	de novo	Probably damaging	PLEKHA6	chr1:204236636	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q31R	SNV	missense	de novo	Probably damaging	PIK3C2B	chr1:204438839	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.C408R	SNV	missense	de novo	Probably damaging	NFASC	chr1:204942490	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P539A	SNV	missense	de novo	Probably damaging	CR1L	chr1:207891009	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P850L	SNV	missense	de novo	Possibly damaging	TLR5	chr1:223283825	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R233C	SNV	missense	de novo	Probably damaging	NVL	chr1:224482030	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P272S	SNV	missense	de novo	Probably damaging	PRSS38	chr1:228033742	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R2280Q	SNV	missense	de novo	Possibly damaging	OBSCN	chr1:228465539	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M196V	SNV	missense	de novo	Probably damaging	CAPN9	chr1:230903336	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A119G	SNV	missense	de novo	Possibly damaging	TSNAX	chr1:231678346	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L399M	SNV	missense	de novo	Possibly damaging	ZP4	chr1:238048581	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A288V	SNV	missense	de novo	benign	WDR64	chr1:241850816	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P449L	SNV	missense	de novo	benign	CMPK2	chr2:6989985	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R595W	SNV	missense	de novo	Probably damaging	GTF3C2	chr2:27552340	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E888G	SNV	missense	de novo	Probably damaging	NRXN1	chr2:50724807	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A315T	SNV	missense	de novo	Probably damaging	CTNNA2	chr2:80136810	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A169V	SNV	missense	de novo	Probably damaging	ASTL	chr2:96798410	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T591N	SNV	missense	de novo	benign	CNNM3	chr2:97493918	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M381I	SNV	missense	de novo	benign	SLC5A7	chr2:108626717	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y230H	SNV	missense	de novo	Probably damaging	TMEM87B	chr2:112838945	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R382T	SNV	missense	de novo	Probably damaging	ZC3H6	chr2:113080284	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R36C	SNV	missense	de novo	Probably damaging	IL36B	chr2:113788640	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E11K	SNV	missense	de novo	Possibly damaging	GLI2	chr2:121554927	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q1852R	SNV	missense	de novo	Possibly damaging	RIF1	chr2:152321589	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R1113H	SNV	missense	de novo	Probably damaging	TANC1	chr2:160074125	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.H214Q	SNV	missense	de novo	benign	XIRP2	chr2:168067324	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L426F	SNV	missense	de novo	benign	SLC25A12	chr2:172666145	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M275T	SNV	missense	de novo	benign	CDCA7	chr2:174229647	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R2354H	SNV	missense	de novo	Probably damaging	TTN	chr2:179638834	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G1006E	SNV	missense	de novo	Probably damaging	AOX1	chr2:201515866	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V1150I	SNV	missense	de novo	benign	FN1	chr2:216262472	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D1729Y	SNV	missense	de novo	benign	SPEG	chr2:220344705	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E686Q	SNV	missense	de novo	Probably damaging	CUL3	chr2:225339015	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T158M	SNV	missense	de novo	Probably damaging	ITM2C	chr2:231742167	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.N1709K	SNV	missense	de novo	Possibly damaging	KIF1A	chr2:241658510	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S809L	SNV	missense	de novo	Possibly damaging	ITPR1	chr3:4715041	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R194Q	SNV	missense	de novo	Possibly damaging	RPUSD3	chr3:9881966	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V1497I	SNV	missense	de novo	benign	NUP210	chr3:13368735	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M84V	SNV	missense	de novo	benign	LSM3	chr3:14239557	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R733H	SNV	missense	de novo	Possibly damaging	STT3B	chr3:31674437	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P49L	SNV	missense	de novo	Probably damaging	ZNF445	chr3:44496896	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T375R	SNV	missense	de novo	benign	LIMD1	chr3:45637495	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V1277M	SNV	missense	de novo	Probably damaging	CELSR3	chr3:48694701	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R440Q	SNV	missense	de novo	Possibly damaging	RAD54L2	chr3:51669785	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R357C	SNV	missense	de novo	Probably damaging	ALAS1	chr3:52240671	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.W2385L	SNV	missense	de novo	Possibly damaging	DNAH1	chr3:52409424	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P31S	SNV	missense	de novo	Possibly damaging	PHF7	chr3:52448529	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G180E	SNV	missense	de novo	benign	KCTD6	chr3:58487184	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T1105S	SNV	missense	de novo	Probably damaging	PTPRG	chr3:62258752	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.F283I	SNV	missense	de novo	Probably damaging	GXYLT2	chr3:73004495	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E2599D	SNV	missense	de novo	Possibly damaging	CRYBG3	chr3:97617822	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P316L	SNV	missense	de novo	benign	TFG	chr3:100467119	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.N489I	SNV	missense	de novo	Probably damaging	ALCAM	chr3:105269062	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q1439H	SNV	missense	de novo	Probably damaging	KIAA2018	chr3:113376212	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M1401L	SNV	missense	de novo	benign	PLXNA1	chr3:126741090	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E266K	SNV	missense	de novo	benign	HPS3	chr3:148858887	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K299E	SNV	missense	de novo	Probably damaging	SHOX2	chr3:157815881	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M729V	SNV	missense	de novo	benign	PSMD2	chr3:184025295	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G357S	SNV	missense	de novo	Possibly damaging	DLG1	chr3:196863463	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R198H	SNV	missense	de novo	benign	ZNF721	chr4:437663	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.C482R	SNV	missense	de novo	benign	PSAPL1	chr4:7435163	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S549G	SNV	missense	de novo	benign	ZNF518B	chr4:10446308	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y281C	SNV	missense	de novo	Probably damaging	SULT1B1	chr4:70592855	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R929H	SNV	missense	de novo	Probably damaging	ADAMTS3	chr4:73156717	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I35N	SNV	missense	de novo	benign	PARM1	chr4:75937695	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P814T	SNV	missense	de novo	benign	SEC31A	chr4:83770019	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T657S	SNV	missense	de novo	Probably damaging	GRID2	chr4:94411901	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S399L	SNV	missense	de novo	benign	METTL14	chr4:119631282	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K146N	SNV	missense	de novo	Probably damaging	MYOZ2	chr4:120085427	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L971S	SNV	missense	de novo	benign	ANKRD50	chr4:125590983	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q859H	SNV	missense	de novo	Probably damaging	FAT4	chr4:126240143	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L201M	SNV	missense	de novo	Probably damaging	PCDH10	chr4:134071896	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G2898A	SNV	missense	de novo	Possibly damaging	DCHS2	chr4:155155746	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A212T	SNV	missense	de novo	Possibly damaging	CBR4	chr4:169911381	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q621H	SNV	missense	de novo	Probably damaging	SORBS2	chr4:186544420	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A219T	SNV	missense	de novo	benign	TLR3	chr4:187003495	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P1137H	SNV	missense	de novo	Probably damaging	PDZD2	chr5:32074622	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I871V	SNV	missense	de novo	benign	ZFR	chr5:32385644	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T1075N	SNV	missense	de novo	benign	ADAMTS6	chr5:64466464	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A243V	SNV	missense	de novo	Possibly damaging	TAF9	chr5:68660837	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L560P	SNV	missense	de novo	Probably damaging	SHROOM1	chr5:132159674	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V152M	SNV	missense	de novo	Probably damaging	CD14	chr5:140012115	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L27M	SNV	missense	de novo	Possibly damaging	CD14	chr5:140012490	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L575M	SNV	missense	de novo	Probably damaging	SH3TC2	chr5:148407572	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L522P	SNV	missense	de novo	Probably damaging	STK10	chr5:171517356	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R1045H	SNV	missense	de novo	benign	NSD1	chr5:176638534	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A5V	SNV	missense	de novo	Probably damaging	GFOD1	chr6:13365825	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G597S	SNV	missense	de novo	Probably damaging	JARID2	chr6:15501497	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R369C	SNV	missense	de novo	benign	ALDH5A1	chr6:24523085	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S39Y	SNV	missense	de novo	Possibly damaging	HIST1H2BE	chr6:26184139	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A34T	SNV	missense	de novo	Probably damaging	HIST1H4I	chr6:27107187	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.C124S	SNV	missense	de novo	Probably damaging	FKBPL	chr6:32097187	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D68N	SNV	missense	de novo	benign	RGL2	chr6:33264213	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V316I	SNV	missense	de novo	benign	C6orf222	chr6:36294377	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.H423Q	SNV	missense	de novo	benign	KIF6	chr6:39513377	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T397S	SNV	missense	de novo	benign	TFAP2D	chr6:50740408	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G54S	SNV	missense	de novo	Probably damaging	PAQR8	chr6:52268171	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L14W	SNV	missense	de novo	-	RIMS1	chr6:72926932	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K408Q	SNV	missense	de novo	benign	KCNQ5	chr6:73839517	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.H334N	SNV	missense	de novo	benign	TTK	chr6:80724195	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y1750C	SNV	missense	de novo	benign	AKD1	chr6:109954110	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A1469T	SNV	missense	de novo	Probably damaging	LAMA4	chr6:112443287	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R480C	SNV	missense	de novo	Probably damaging	KIAA1244	chr6:138584058	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K1875R	SNV	missense	de novo	benign	KIAA1244	chr6:138655607	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R2772C	SNV	missense	de novo	benign	UTRN	chr6:145073047	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E7077A	SNV	missense	de novo	Probably damaging	SYNE1	chr6:152545708	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M1004T	SNV	missense	de novo	benign	ARID1B	chr6:157495166	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D469N	SNV	missense	de novo	benign	AMZ1	chr7:2752420	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q642H	SNV	missense	de novo	benign	FBXL18	chr7:5530936	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R103S	SNV	missense	de novo	benign	CDCA7L	chr7:21948018	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P300T	SNV	missense	de novo	Probably damaging	SCRN1	chr7:29976179	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A37V	SNV	missense	de novo	Probably damaging	NME8	chr7:37890249	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K119R	SNV	missense	de novo	benign	YAE1D1	chr7:39611980	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R325C	SNV	missense	de novo	Possibly damaging	GLI3	chr7:42079692	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T751M	SNV	missense	de novo	Probably damaging	POM121C	chr7:75051283	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G228D	SNV	missense	de novo	benign	RUNDC3B	chr7:87399950	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I1770F	SNV	missense	de novo	Possibly damaging	AKAP9	chr7:91674467	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q128K	SNV	missense	de novo	benign	PEX1	chr7:92147545	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D247A	SNV	missense	de novo	Probably damaging	GNB2	chr7:100276061	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S2157T	SNV	missense	de novo	benign	MUC17	chr7:100681167	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y1981C	SNV	missense	de novo	Probably damaging	RELN	chr7:103194134	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y395C	SNV	missense	de novo	Probably damaging	C7orf60	chr7:112461833	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G6R	SNV	missense	de novo	benign	C7orf60	chr7:112579790	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V235M	SNV	missense	de novo	benign	SLC13A1	chr7:122787322	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D337G	SNV	missense	de novo	benign	SND1	chr7:127347673	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T433I	SNV	missense	de novo	benign	CCDC136	chr7:128446791	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R300W	SNV	missense	de novo	benign	TAS2R3	chr7:141464856	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G1686C	SNV	missense	de novo	Probably damaging	SSPO	chr7:149489224	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S941A	SNV	missense	de novo	Probably damaging	NOS3	chr7:150707820	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P1620L	SNV	missense	de novo	benign	MLL3	chr7:151884496	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R77W	SNV	missense	de novo	Possibly damaging	TNKS	chr8:9413678	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R255G	SNV	missense	de novo	Possibly damaging	XKR6	chr8:11058086	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E682G	SNV	missense	de novo	Possibly damaging	XPO7	chr8:21849382	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R613Q	SNV	missense	de novo	benign	FAM160B2	chr8:21959349	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K225E	SNV	missense	de novo	Probably damaging	PTK2B	chr8:27288396	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R232C	SNV	missense	de novo	Possibly damaging	ESCO2	chr8:27634519	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.N336S	SNV	missense	de novo	Probably damaging	KIF13B	chr8:29025041	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.F896L	SNV	missense	de novo	benign	TEX15	chr8:30703848	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S1146L	SNV	missense	de novo	Probably damaging	WRN	chr8:31004622	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S597R	SNV	missense	de novo	Probably damaging	ANK1	chr8:41571683	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.F127V	SNV	missense	de novo	Possibly damaging	TTPA	chr8:63978636	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G87R	SNV	missense	de novo	Probably damaging	XKR9	chr8:71593552	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A85V	SNV	missense	de novo	Probably damaging	PI15	chr8:75737738	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V6A	SNV	missense	de novo	Possibly damaging	FABP4	chr8:82395386	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K115R	SNV	missense	de novo	benign	YWHAZ	chr8:101937218	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A351T	SNV	missense	de novo	benign	TRHR	chr8:110131538	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A470G	SNV	missense	de novo	Probably damaging	SQLE	chr8:126030934	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A411S	SNV	missense	de novo	Probably damaging	ASAP1	chr8:131140302	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G448R	SNV	missense	de novo	Probably damaging	PUF60	chr8:144898899	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R2179Q	SNV	missense	de novo	benign	EPPK1	chr8:144940886	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R214H	SNV	missense	de novo	Probably damaging	TONSL	chr8:145667733	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T78I	SNV	missense	de novo	benign	RANBP6	chr9:6014319	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R175T	SNV	missense	de novo	benign	HAUS6	chr9:19089470	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V463M	SNV	missense	de novo	Possibly damaging	ACO1	chr9:32427337	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P207L	SNV	missense	de novo	Probably damaging	PAX5	chr9:36966706	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D519E	SNV	missense	de novo	Probably damaging	PRUNE2	chr9:79325633	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q2658H	SNV	missense	de novo	benign	VPS13A	chr9:79974304	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R189Q	SNV	missense	de novo	Probably damaging	COL15A1	chr9:101748312	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q183L	SNV	missense	de novo	benign	FSD1L	chr9:108246745	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L272M	SNV	missense	de novo	Probably damaging	ACTL7B	chr9:111617397	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q402K	SNV	missense	de novo	benign	PTPN3	chr9:112172670	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S1846T	SNV	missense	de novo	Possibly damaging	COL27A1	chr9:117072928	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D501E	SNV	missense	de novo	benign	PHF19	chr9:123620462	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G146R	SNV	missense	de novo	Probably damaging	LHX6	chr9:124979560	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D37A	SNV	missense	de novo	Possibly damaging	C9orf114	chr9:131591112	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R388C	SNV	missense	de novo	Probably damaging	POMT1	chr9:134388705	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L98F	SNV	missense	de novo	Possibly damaging	EGFL7	chr9:139564152	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R302L	SNV	missense	de novo	benign	MAMDC4	chr9:139749099	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R109Q	SNV	missense	de novo	Possibly damaging	EXD3	chr9:140267493	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A329D	SNV	missense	de novo	benign	EPC1	chr10:32576192	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G171S	SNV	missense	de novo	Probably damaging	MAPK8	chr10:49628258	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R252H	SNV	missense	de novo	benign	LIPK	chr10:90497477	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A138T	SNV	missense	de novo	Possibly damaging	ANKRD22	chr10:90583123	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G368R	SNV	missense	de novo	Probably damaging	ACTA2	chr10:90695012	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P1371S	SNV	missense	de novo	Probably damaging	MYOF	chr10:95107512	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A557V	SNV	missense	de novo	Probably damaging	TM9SF3	chr10:98287002	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G34E	SNV	missense	de novo	benign	POLL	chr10:103347017	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R964H	SNV	missense	de novo	benign	PDCD11	chr10:105184868	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G47D	SNV	missense	de novo	Probably damaging	ACSL5	chr10:114154676	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V128M	SNV	missense	de novo	Probably damaging	FAM160B1	chr10:116595383	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L1049V	SNV	missense	de novo	Possibly damaging	MUC6	chr11:1024924	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R926Q	SNV	missense	de novo	Probably damaging	MUC6	chr11:1025827	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P1935S	SNV	missense	de novo	benign	MUC5B	chr11:1263913	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R725C	SNV	missense	de novo	benign	PDE3B	chr11:14854346	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V507I	SNV	missense	de novo	benign	IGSF22	chr11:18736991	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V188I	SNV	missense	de novo	Possibly damaging	KIF18A	chr11:28112982	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P20L	SNV	missense	de novo	Probably damaging	KIF18A	chr11:28119436	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T33M	SNV	missense	de novo	benign	ACCSL	chr11:44069684	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G907R	SNV	missense	de novo	Probably damaging	LRP4	chr11:46903348	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R300W	SNV	missense	de novo	Probably damaging	PTPRJ	chr11:48146543	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R340W	SNV	missense	de novo	Probably damaging	SMTNL1	chr11:57313454	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.F218L	SNV	missense	de novo	benign	FADS2	chr11:61615666	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R335H	SNV	missense	de novo	Probably damaging	SYVN1	chr11:64898233	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R98H	SNV	missense	de novo	Possibly damaging	SPDYC	chr11:64939751	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A899T	SNV	missense	de novo	Possibly damaging	NUMA1	chr11:71725854	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A311G	SNV	missense	de novo	benign	ARAP1	chr11:72423331	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R402Q	SNV	missense	de novo	benign	GDPD5	chr11:75152811	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R496Q	SNV	missense	de novo	benign	CAPN5	chr11:76831955	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M125V	SNV	missense	de novo	benign	CLNS1A	chr11:77336107	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S471L	SNV	missense	de novo	benign	MAML2	chr11:95825783	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I8V	SNV	missense	de novo	Probably damaging	CEP164	chr11:117209324	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G565R	SNV	missense	de novo	Probably damaging	PHLDB1	chr11:118499232	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q473R	SNV	missense	de novo	benign	HSPA8	chr11:122929444	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T429S	SNV	missense	de novo	benign	HSPA8	chr11:122929804	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K33R	SNV	missense	de novo	Possibly damaging	FOXRED1	chr11:126141344	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G218A	SNV	missense	de novo	-	IQSEC3	chr12:234828	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y642F	SNV	missense	de novo	benign	CD163L1	chr12:7548816	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.N454D	SNV	missense	de novo	Probably damaging	CD163	chr12:7647737	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I149T	SNV	missense	de novo	Probably damaging	SLCO1B7	chr12:21175889	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K182N	SNV	missense	de novo	Probably damaging	STK38L	chr12:27467465	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.N860S	SNV	missense	de novo	benign	ARID2	chr12:46244485	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R26Q	SNV	missense	de novo	benign	KRT82	chr12:52799985	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R428C	SNV	missense	de novo	Probably damaging	ZC3H10	chr12:56515628	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T318M	SNV	missense	de novo	Probably damaging	MDM1	chr12:68709981	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S673C	SNV	missense	de novo	Possibly damaging	CEP290	chr12:88508231	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R121H	SNV	missense	de novo	benign	IKBIP	chr12:99008054	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I36V	SNV	missense	de novo	benign	NUP37	chr12:102512191	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D817G	SNV	missense	de novo	Probably damaging	ALDH1L2	chr12:105424168	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S73P	SNV	missense	de novo	benign	TCP11L2	chr12:106708195	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.N74T	SNV	missense	de novo	Probably damaging	TCP11L2	chr12:106708199	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K463E	SNV	missense	de novo	benign	ANAPC5	chr12:121756326	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I65V	SNV	missense	de novo	benign	PSPC1	chr13:20356705	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V931I	SNV	missense	de novo	Possibly damaging	STARD13	chr13:33684161	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V564I	SNV	missense	de novo	benign	NBEA	chr13:35683436	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M208R	SNV	missense	de novo	Probably damaging	HTR2A	chr13:47409765	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I255L	SNV	missense	de novo	Probably damaging	INTS6	chr13:51961614	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S1264L	SNV	missense	de novo	Probably damaging	NALCN	chr13:101733972	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L394V	SNV	missense	de novo	Probably damaging	TINF2	chr14:24709311	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R1040W	SNV	missense	de novo	Probably damaging	NYNRIN	chr14:24884073	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.F92V	SNV	missense	de novo	Probably damaging	C14orf28	chr14:45369912	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R197W	SNV	missense	de novo	Probably damaging	ESR2	chr14:64735576	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.F505L	SNV	missense	de novo	benign	PLEKHH1	chr14:68038547	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.H437R	SNV	missense	de novo	Probably damaging	ACTN1	chr14:69352217	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K376E	SNV	missense	de novo	Possibly damaging	DICER1	chr14:95590783	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T196M	SNV	missense	de novo	Probably damaging	WARS	chr14:100820162	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R370H	SNV	missense	de novo	Probably damaging	AKT1	chr14:105239278	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I902F	SNV	missense	de novo	benign	TRPM1	chr15:31327796	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V2205M	SNV	missense	de novo	Probably damaging	RYR3	chr15:33999249	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I4730T	SNV	missense	de novo	Probably damaging	RYR3	chr15:34151822	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D577N	SNV	missense	de novo	Probably damaging	DLL4	chr15:41228914	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R277H	SNV	missense	de novo	Probably damaging	INO80	chr15:41377610	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T2920A	SNV	missense	de novo	benign	SPTBN5	chr15:42148742	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S73C	SNV	missense	de novo	Probably damaging	DUOXA1	chr15:45413408	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I307V	SNV	missense	de novo	benign	GNB5	chr15:52416801	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R123H	SNV	missense	de novo	Probably damaging	CLPX	chr15:65459114	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T1331I	SNV	missense	de novo	benign	UACA	chr15:70957083	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y655C	SNV	missense	de novo	Probably damaging	CHSY1	chr15:101718038	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R103H	SNV	missense	de novo	Possibly damaging	RHBDF1	chr16:113739	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R207C	SNV	missense	de novo	Probably damaging	MPG	chr16:135513	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K131E	SNV	missense	de novo	benign	SOLH	chr16:597229	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P158L	SNV	missense	de novo	benign	DNASE1L2	chr16:2287532	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M78T	SNV	missense	de novo	benign	CDIP1	chr16:4563705	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I1295T	SNV	missense	de novo	Probably damaging	GRIN2A	chr16:9857517	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D233N	SNV	missense	de novo	Probably damaging	CLEC16A	chr16:11066893	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E1137K	SNV	missense	de novo	Probably damaging	MYH11	chr16:15829341	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E383K	SNV	missense	de novo	benign	EEF2K	chr16:22269932	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S368N	SNV	missense	de novo	benign	COG7	chr16:23430055	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T169I	SNV	missense	de novo	benign	TMEM219	chr16:29979496	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G491R	SNV	missense	de novo	Probably damaging	TBC1D10B	chr16:30370664	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R590H	SNV	missense	de novo	Probably damaging	FBXL19	chr16:30958132	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V126G	SNV	missense	de novo	Probably damaging	PYCARD	chr16:31213117	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.W167R	SNV	missense	de novo	Probably damaging	AKTIP	chr16:53528433	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L36F	SNV	missense	de novo	Probably damaging	NLRC5	chr16:57054730	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S975N	SNV	missense	de novo	Possibly damaging	NLRC5	chr16:57074615	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I336L	SNV	missense	de novo	benign	CDH5	chr16:66426075	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R461M	SNV	missense	de novo	Probably damaging	CES4A	chr16:67043035	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D91N	SNV	missense	de novo	Probably damaging	DPEP2	chr16:68026532	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V426M	SNV	missense	de novo	Possibly damaging	SLC7A6	chr16:68330536	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Q543R	SNV	missense	de novo	benign	PMFBP1	chr16:72162581	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R136K	SNV	missense	de novo	benign	CLEC3A	chr16:78064707	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L549M	SNV	missense	de novo	Possibly damaging	TAF1C	chr16:84213434	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A157T	SNV	missense	de novo	benign	COX4I1	chr16:85840439	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I489L	SNV	missense	de novo	benign	FBXO31	chr16:87365049	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R913C	SNV	missense	de novo	Probably damaging	SGSM2	chr17:2281220	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V53A	SNV	missense	de novo	benign	ALOX15	chr17:4542904	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S1380R	SNV	missense	de novo	Probably damaging	NLRP1	chr17:5418224	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V176M	SNV	missense	de novo	Possibly damaging	FBXO39	chr17:6683713	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A625V	SNV	missense	de novo	Possibly damaging	ARHGEF15	chr17:8222069	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R584Q	SNV	missense	de novo	benign	NOS2	chr17:26097997	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R98Q	SNV	missense	de novo	benign	TNFAIP1	chr17:26667422	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R1219H	SNV	missense	de novo	Probably damaging	MYO18A	chr17:27425968	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S601N	SNV	missense	de novo	Possibly damaging	GIT1	chr17:27902699	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E493K	SNV	missense	de novo	Probably damaging	SSH2	chr17:27963690	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E912D	SNV	missense	de novo	-	SRCIN1	chr17:36707617	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E3K	SNV	missense	de novo	Probably damaging	STAC2	chr17:37381749	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V1098I	SNV	missense	de novo	benign	ERBB2	chr17:37883770	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E276K	SNV	missense	de novo	Possibly damaging	KRT25	chr17:38907422	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T222I	SNV	missense	de novo	Probably damaging	KRT20	chr17:39036479	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I167N	SNV	missense	de novo	Probably damaging	KRT15	chr17:39673416	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E372D	SNV	missense	de novo	benign	EFTUD2	chr17:42942362	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S1252N	SNV	missense	de novo	benign	SPAG9	chr17:49048133	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S42R	SNV	missense	de novo	Possibly damaging	CA10	chr17:50149689	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P1743R	SNV	missense	de novo	benign	BZRAP1	chr17:56383196	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.K143Q	SNV	missense	de novo	benign	MRC2	chr17:60742217	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A794V	SNV	missense	de novo	Probably damaging	TANC2	chr17:61457099	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A556S	SNV	missense	de novo	benign	KCNH6	chr17:61615590	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L295P	SNV	missense	de novo	Probably damaging	CCDC47	chr17:61833664	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S162G	SNV	missense	de novo	benign	SLC9A3R1	chr17:72758193	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R222C	SNV	missense	de novo	benign	LLGL2	chr17:73559230	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L1223V	SNV	missense	de novo	Probably damaging	TNRC6C	chr17:76083048	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S110L	SNV	missense	de novo	Probably damaging	CBX8	chr17:77769275	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.F486L	SNV	missense	de novo	benign	BAIAP2	chr17:79089626	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L203P	SNV	missense	de novo	Probably damaging	MYADML2	chr17:79899010	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T65A	SNV	missense	de novo	Probably damaging	FN3KRP	chr17:80676833	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P215A	SNV	missense	de novo	benign	SMAD7	chr18:46474778	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T1160I	SNV	missense	de novo	Possibly damaging	ZNF532	chr18:56651271	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.N605K	SNV	missense	de novo	Possibly damaging	AP3D1	chr19:2117265	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R257W	SNV	missense	de novo	Probably damaging	ZNF77	chr19:2934356	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G123A	SNV	missense	de novo	Probably damaging	TBXA2R	chr19:3600265	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E580D	SNV	missense	de novo	Probably damaging	SAFB2	chr19:5598846	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.Y240F	SNV	missense	de novo	Probably damaging	EMR1	chr19:6904119	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V182I	SNV	missense	de novo	Probably damaging	EVI5L	chr19:7914023	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E517K	SNV	missense	de novo	Probably damaging	ADAMTS10	chr19:8657685	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G109E	SNV	missense	de novo	benign	ZNF426	chr19:9641743	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V419L	SNV	missense	de novo	Possibly damaging	FARSA	chr19:13035281	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R70G	SNV	missense	de novo	Possibly damaging	IER2	chr19:13264208	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R322Q	SNV	missense	de novo	Probably damaging	ILVBL	chr19:15230063	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R382C	SNV	missense	de novo	Probably damaging	WIZ	chr19:15536517	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L401V	SNV	missense	de novo	benign	HAUS8	chr19:17160712	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M1256I	SNV	missense	de novo	benign	UNC13A	chr19:17738735	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S6L	SNV	missense	de novo	Possibly damaging	KXD1	chr19:18672883	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R380L	SNV	missense	de novo	Probably damaging	ZNF536	chr19:30935608	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P56L	SNV	missense	de novo	Possibly damaging	MED29	chr19:39882166	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S553C	SNV	missense	de novo	Probably damaging	SHKBP1	chr19:41096218	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L611V	SNV	missense	de novo	Possibly damaging	AXL	chr19:41758804	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R487H	SNV	missense	de novo	Probably damaging	ERF	chr19:42752804	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.H264R	SNV	missense	de novo	Probably damaging	CIC	chr19:42791987	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T639A	SNV	missense	de novo	benign	ALDH16A1	chr19:49971767	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A2V	SNV	missense	de novo	Probably damaging	TSKS	chr19:50266500	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G143S	SNV	missense	de novo	benign	LENG1	chr19:54660649	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G46E	SNV	missense	de novo	Probably damaging	BRSK1	chr19:55798375	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.H290R	SNV	missense	de novo	benign	ZNF551	chr19:58198596	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G269R	SNV	missense	de novo	Probably damaging	ZBTB45	chr19:59028236	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.M103I	SNV	missense	de novo	Probably damaging	CHMP2A	chr19:59063665	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A382T	SNV	missense	de novo	Possibly damaging	ZNF133	chr20:18296642	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T214M	SNV	missense	de novo	Probably damaging	ABHD12	chr20:25290190	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T4K	SNV	missense	de novo	Probably damaging	DUSP15	chr20:30450489	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T1267N	SNV	missense	de novo	benign	ASXL1	chr20:31024315	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L534V	SNV	missense	de novo	benign	FAM83C	chr20:33874982	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.E634K	SNV	missense	de novo	Probably damaging	EPB41L1	chr20:34797641	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T556M	SNV	missense	de novo	Probably damaging	TGM2	chr20:36760851	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G517R	SNV	missense	de novo	benign	SULF2	chr20:46300969	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I229V	SNV	missense	de novo	Probably damaging	DPM1	chr20:49551767	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R970Q	SNV	missense	de novo	Probably damaging	TSHZ2	chr20:51872915	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I119T	SNV	missense	de novo	Possibly damaging	SLMO2	chr20:57611545	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R123H	SNV	missense	de novo	benign	C20orf197	chr20:58645950	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S371L	SNV	missense	de novo	Probably damaging	GTPBP5	chr20:60776024	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P381L	SNV	missense	de novo	Probably damaging	ADAMTS1	chr21:28214245	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S2204N	SNV	missense	de novo	benign	URB1	chr21:33688800	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I196L	SNV	missense	de novo	benign	IFNAR2	chr21:34625012	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G1319A	SNV	missense	de novo	benign	SON	chr21:34925493	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R541H	SNV	missense	de novo	Possibly damaging	TSPEAR	chr21:45947268	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G484R	SNV	missense	de novo	Probably damaging	COL6A2	chr21:47541029	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R1855G	SNV	missense	de novo	Probably damaging	PCNT	chr21:47831550	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.T258R	SNV	missense	de novo	Possibly damaging	CCT8L2	chr22:17072668	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A968V	SNV	missense	de novo	benign	CABIN1	chr22:24479335	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R1535C	SNV	missense	de novo	Probably damaging	MYO18B	chr22:26291182	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P602Q	SNV	missense	de novo	Possibly damaging	EIF4ENIF1	chr22:31844182	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.G206E	SNV	missense	de novo	Possibly damaging	APOL5	chr22:36122732	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.V1285M	SNV	missense	de novo	Possibly damaging	MYH9	chr22:36714348	-
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.P886A	SNV	missense	de novo	benign	EP300	chr22:41546041	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.D189G	SNV	missense	de novo	Probably damaging	CERK	chr22:47106986	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.L216H	SNV	missense	de novo	benign	ARSE	chrX:2867552	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R296C	SNV	missense	de novo	Probably damaging	TLR7	chrX:12904513	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S290R	SNV	missense	de novo	Possibly damaging	DMD	chrX:32716053	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R289H	SNV	missense	de novo	Probably damaging	TSPYL2	chrX:53113785	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R4237C	SNV	missense	de novo	Probably damaging	HUWE1	chrX:53561599	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.A326G	SNV	missense	de novo	Probably damaging	HUWE1	chrX:53655840	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.I52N	SNV	missense	de novo	benign	MAGT1	chrX:77150849	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.C279R	SNV	missense	de novo	benign	NXF3	chrX:102337238	Tolerated
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.R529C	SNV	missense	de novo	Probably damaging	ACSL4	chrX:108904872	Damaging
Fromer	2014	24463507	Agilent + NimbleGen array	Illumina HiSeq paired-end sequencing	623 trios	-	-	Sporadic family	Bulgarian	p.S84N	SNV	missense	de novo	benign	HTATSF1	chrX:135581821	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V294I	SNV	missense	de novo	-	GIF	chr11:59603474	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.C13S	SNV	missense	de novo	Probably damaging	PLCL2	chr3:17051253	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-donor_7	de novo	-	VPS35	chr16:46705610	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A68V	SNV	missense	de novo	Possibly damaging	VN1R4	chr19:53770716	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.T256S	SNV	missense	de novo	benign	MAGEC1	chrX:140993957	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V489L	SNV	missense	de novo	benign	RFX3	chr9:3263075	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Gln1001HisfsX47	indel	framshift(insertion)	de novo	-	KIAA0467	chr1:43891777	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.W191S	SNV	missense	de novo	benign	HLA-C	chr6:31238897	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.I237T	SNV	missense	de novo	-	TEKT5	chr16:10783119	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R1081H	SNV	missense	de novo	Probably damaging	WDR11	chr10:122664879	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A1717D	SNV	missense	de novo	-	UBR5	chr8:103298653	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.G198D	SNV	missense	de novo	benign	PPP1R14D	chr15:41107855	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Y1740H	SNV	missense	de novo	-	LCT	chr2:136548345	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.E605K	SNV	missense	de novo	benign	THBS1	chr15:39881442	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.G539R	SNV	missense	de novo	Probably damaging	DPYD	chr1:97981407	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/canonical	splice-donor_2	de novo	-	CELF2	chr10:11356223	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V122M	SNV	missense	de novo	benign	TEP1	chr14:20876235	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/canonical	splice-acceptor_-1	de novo	-	SYNGAP1	chr6:33414351	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.G202R	SNV	missense	de novo	Probably damaging	OR4C46	chr11:51515885	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Lys186GlufsX9	indel	framshift(deletion)	de novo	-	HIST1H1E	chr6:26157173	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V29I	SNV	missense	de novo	benign	PAG1	chr8:81905378	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.E719K	SNV	missense	de novo	-	IRS1	chr2:227661300	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-donor_-6	de novo	-	COG1	chr17:71196155	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-acceptor_-3	de novo	-	ADAMTS3	chr4:73185683	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	indel	No_frameshift (deletion)	de novo	-	SPATA5	chr4:123855728	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.L32M	SNV	missense	de novo	Probably damaging	UGT1A3	chr2:234637866	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.G231S	SNV	missense	de novo	-	NPRL2	chr3:50385987	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Y147C	SNV	missense	de novo	-	FAM3D	chr3:58622886	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Asp350_Glu351del	indel	No_frameshift(deletion)	de novo	-	TAF7L	chrX:100531413	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Glu1228ThrfsX7	indel	framshift(deletion)	de novo	-	RB1CC1	chr8:53568705	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.P407L	SNV	missense	de novo	-	CSPG4	chr15:75982186	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Ser447GlyfsX3	indel	framshift(deletion)	de novo	-	DDHD2	chr8:38107312	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R417S	SNV	missense	de novo	Possibly damaging	INTS10	chr8:19688027	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-donor_10	de novo	-	KRT4	chr12:53204530	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.S332C	SNV	missense	de novo	Probably damaging	KLF12	chr13:74289537	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.I295F	SNV	missense	de novo	Probably damaging	TRRAP	chr7:98498329	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A1180T	SNV	missense	de novo	benign	SYNM	chr15:99673042	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R57K	SNV	missense	de novo	Possibly damaging	TUB	chr11:8061206	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.E254K	SNV	missense	de novo	-	PHF23	chr17:7139486	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.L3217P	SNV	missense	de novo	benign	AHNAK2	chr14:105412138	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.S1020G	SNV	missense	de novo	Probably damaging	ADCY7	chr16:50349011	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R217W	SNV	missense	de novo	-	PITPNM1	chr11:67267884	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.T102I	SNV	missense	de novo	-	GPR153	chr1:6314661	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.P1120L	SNV	missense	de novo	benign	RGS12	chr4:3429844	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.P223S	SNV	missense	de novo	benign	PAPPA2	chr1:176526125	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Val56ArgfsX48	indel	framshift(insertion)	de novo	-	ESAM	chr11:124626163	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.G104C	SNV	missense	de novo	-	CLIC5	chr6:46047670	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.T75M	SNV	missense	de novo	Probably damaging	PML	chr15:74290439	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R26C	SNV	missense	de novo	Probably damaging	P2RY2	chr11:72945280	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A54G	SNV	missense	de novo	-	C16orf62	chr16:19566945	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.F416L	SNV	missense	de novo	benign	DHX8	chr17:41573584	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-donor_3	de novo	-	COMMD9	chr11:36297684	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Y170C	SNV	missense	de novo	Possibly damaging	ACOT6	chr14:74086428	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.G290S	SNV	missense	de novo	Probably damaging	SAP30BP	chr17:73702542	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R1105W	SNV	missense	de novo	Probably damaging	ZBTB40	chr1:22850725	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-acceptor_-3	de novo	-	LAMA2	chr6:129687361	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Glu122del	indel	No_frameshift(deletion)	de novo	-	SMCHD1	chr6:27101212	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.S238L	SNV	missense	de novo	-	FAM13C	chr10:61029749	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R490C	SNV	missense	de novo	Probably damaging	HMGCR	chr5:74650427	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R134Q	SNV	missense	de novo	-	SPATA22	chr17:3352372	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.E1334X	SNV	Nonsense	de novo	-	URB2	chr1:229783350	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.L110P	SNV	missense	de novo	-	STAC2	chr17:37374188	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V4900M	SNV	missense	de novo	-	MUC5B	chr11:1272808	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A683V	SNV	missense	de novo	Probably damaging	SLC4A8	chr12:51868866	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R98W	SNV	missense	de novo	-	TREM2	chr6:41129100	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A983V	SNV	missense	de novo	benign	DAB2IP	chr9:124536603	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.M112V	SNV	missense	de novo	benign	ABCG4	chr11:119024831	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Q484E	SNV	missense	de novo	benign	MYH10	chr17:8445550	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.D305V	SNV	missense	de novo	Probably damaging	RRP1B	chr21:45104456	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R472Q	SNV	missense	de novo	-	TOP3B	chr22:22316911	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A40T	SNV	missense	de novo	benign	SPIB	chr19:50925796	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.S3309F	SNV	missense	de novo	Probably damaging	BIRC6	chr2:32733272	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.N46D	SNV	missense	de novo	-	CYTH1	chr17:76704313	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.E78D	SNV	missense	de novo	benign	ARHGEF38	chr4:106510442	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/canonical	splice-acceptor_-1	de novo	-	BRPF1	chr3:9786691	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R81H	SNV	missense	de novo	-	H2AFV	chr7:44875211	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V138M	SNV	missense	de novo	Probably damaging	AP2A2	chr11:972194	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.S410N	SNV	missense	de novo	Possibly damaging	ZNF530	chr19:58118122	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R665S	SNV	missense	de novo	benign	TGM6	chr20:2413163	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.E617K	SNV	missense	de novo	-	SLC26A8	chr6:35927251	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.S299N	SNV	missense	de novo	benign	SMAP2	chr1:40882500	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.I248F	SNV	missense	de novo	benign	LARP7	chr4:113568450	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.I389F	SNV	missense	de novo	Probably damaging	BCORL1	chrX:129147913	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.L625H	DNV	missense	de novo	-	GPR115	chr6:47682854	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.N796S	SNV	missense	de novo	-	MTOR	chr1:11293489	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.N105S	SNV	missense	de novo	-	CCDC108	chr2:219900235	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V1284F	SNV	missense	de novo	Probably damaging	UNC13C	chr15:54586124	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R327H	SNV	missense	de novo	-	SLC19A2	chr1:169439252	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.P41S	SNV	missense	de novo	benign	FBXO7	chr22:32875203	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.H678R	SNV	missense	de novo	Probably damaging	TRAK1	chr3:42261055	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R341Q	SNV	missense	de novo	-	RASGRP1	chr15:38800147	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.K209X	SNV	Nonsense	de novo	-	RARG	chr12:53608241	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A328S	SNV	missense	de novo	-	EVC2	chr4:5642489	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R328W	SNV	missense	de novo	benign	ZNF229	chr19:44933974	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.N322I	SNV	missense	de novo	Probably damaging	UBQLN1	chr9:86292782	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A413G	SNV	missense	de novo	Probably damaging	FASTKD5	chr20:3128479	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.S152F	SNV	missense	de novo	Possibly damaging	COL3A1	chr2:189851792	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Ile592AlafsX13	indel	framshift(insertion)	de novo	-	XPR1	chr1:180843041	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.P388R	SNV	missense	de novo	Probably damaging	DGCR2	chr22:19028681	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-donor_7	de novo	-	PLK3	chr1:45269925	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Ser3050ThrfsX27	indel	framshift(deletion)	de novo	-	LAMA2	chr6:129835668	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A80V	SNV	missense	de novo	benign	INPP5A	chr10:134463942	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Y469H	SNV	missense	de novo	-	EDEM2	chr20:33703457	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-acceptor_6	de novo	-	DOCK1	chr10:128840894	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.S21R	SNV	missense	de novo	benign	PLA2G12B	chr10:74714381	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-donor_6	de novo	-	TRRAP	chr7:98564791	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.D170N	SNV	missense	de novo	-	AC040977.1	chr17:6920327	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Q34X	SNV	Nonsense	de novo	-	SSBP3	chr1:54870560	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A33V	SNV	missense	de novo	-	SSBP3	chr1:54870562	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V177I	SNV	missense	de novo	benign	GPRIN3	chr4:90170733	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.I466T	SNV	missense	de novo	Probably damaging	TBC1D14	chr4:7008404	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/canonical	splice-donor_1	de novo	-	NLRC5	chr16:57095444	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R59K	SNV	missense	de novo	benign	C1orf185	chr1:51584391	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.D506Y	SNV	missense	de novo	-	FCGBP	chr19:40430427	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Y4950D	SNV	missense	de novo	Probably damaging	KIAA1109	chr4:123283232	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A227T	SNV	missense	de novo	Probably damaging	GNAO1	chr16:56370728	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.M287I	SNV	missense	de novo	benign	SLC17A1	chr6:25813095	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Gln17ValfsX6	indel	framshift(deletion)	de novo	-	CCDC39	chr3:180334391	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.A514S	SNV	missense	de novo	benign	PRKCB	chr16:24196438	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R200S	SNV	missense	de novo	-	PSG2	chr19:43579615	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.T223S	SNV	missense	de novo	Probably damaging	STAG1	chr3:136240064	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/canonical	splice-acceptor_-2	de novo	-	PRDX6	chr1:173450463	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.P80S	SNV	missense	de novo	benign	IGFL2	chr19:46664002	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R4033W	SNV	missense	de novo	Probably damaging	MACF1	chr1:39904999	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.K112E	SNV	missense	de novo	benign	CEACAM18	chr19:51983685	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R121L	SNV	missense	de novo	Probably damaging	ANO9	chr11:432043	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.D238N	SNV	missense	de novo	benign	ARHGEF10	chr8:1824769	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R69Q	SNV	missense	de novo	Probably damaging	RECK	chr9:36058870	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R461X	SNV	Nonsense	de novo	-	NUP54	chr4:77038831	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R1214Q	SNV	missense	de novo	Possibly damaging	PTPRM	chr18:8379193	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R790C	SNV	missense	de novo	-	VPS39	chr15:42454322	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Ile171SerfsX8	indel	framshift(deletion)	de novo	-	KDM5C	chrX:53245325	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Y80H	SNV	missense	de novo	-	CIT	chr12:120306864	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-acceptor_-3	de novo	-	C2CD3	chr11:73811724	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R120H	SNV	missense	de novo	benign	IFT81	chr12:110566865	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.W621X	SNV	Nonsense	de novo	-	DPYD	chr1:97915657	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	splice/consensus	splice-donor_8	de novo	-	VPS39	chr15:42479948	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V93A	SNV	missense	de novo	-	HECTD1	chr14:31647323	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.T574K	SNV	missense	de novo	-	DSCAM	chr21:41710090	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.Y22X	SNV	Nonsense	de novo	-	STAP2	chr19:4338685	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.K410E	SNV	missense	de novo	Possibly damaging	DDX10	chr11:108577470	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.K430N	SNV	missense	de novo	benign	CARD6	chr5:40852724	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R288W	SNV	missense	de novo	Probably damaging	CAMK4	chr5:110818516	Damaging
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.K210R	SNV	missense	de novo	benign	CANX	chr5:179136974	Tolerated
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.E790K	SNV	missense	de novo	-	IFT140	chr16:1607967	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.R404Q	SNV	missense	de novo	Possibly damaging	HTR7	chr10:92508680	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.V282A	SNV	missense	de novo	Probably damaging	CCDC84	chr11:118886056	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.S552F	SNV	missense	de novo	Probably damaging	MBTPS1	chr16:84104320	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	p.L380M	SNV	missense	de novo	Probably damaging	EMR3	chr19:14752341	-
Xu	2012	23042115	Agilent SureSelect v2 + NimbleGen SeqCap EZ v2	Illumina HiSeq 2000	231 trios	34 trios	absence of disease in first- or second degree relatives	Sporadic family	European (from South Africa and America)	-	Indel	No_frameshift (deletion)	de novo	-	ITGA6	chr2:173368885	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L208fs	Indel	frameshift_variant	NA	-	PLEKHN1	chr1:906272	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D356H	SNV	missense	NA	Probably damaging	PLEKHN1	chr1:907712	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter381LextX?	SNV	stop_lost	NA	-	C1orf159	chr1:1018274	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P275fs	Indel	frameshift_variant	NA	-	C1orf159	chr1:1019518	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G196fs	Indel	frameshift_variant	NA	-	B3GALT6	chr1:1168239	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R197fs	Indel	frameshift_variant	NA	-	B3GALT6	chr1:1168246	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P73A	SNV	missense	NA	Probably damaging	AURKAIP1	chr1:1309661	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E794X	SNV	stop_gained	NA	-	C1orf222	chr1:1854546	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I78N	SNV	missense	NA	Probably damaging	GABRD	chr1:1956824	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter453SextX?	SNV	stop_lost	NA	Probably damaging	GABRD	chr1:1961720	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q64X	SNV	stop_gained	NA	-	PRKCZ	chr1:2066750	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SKI	chr1:2237457	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W43R	SNV	missense	NA	Probably damaging	MORN1	chr1:2321385	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T161M	SNV	missense	NA	Probably damaging	RER1	chr1:2333762	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W401X	SNV	stop_gained	NA	-	TP73	chr1:3649316	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y85X	SNV	stop_gained	NA	-	RPL22	chr1:6246864	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RPL22	chr1:6257818	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R8fs	Indel	frameshift_variant	NA	-	HES3	chr1:6304438	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R8H	SNV	missense	NA	Probably damaging	HES3	chr1:6304448	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E350fs	Indel	frameshift_variant	NA	-	ACOT7	chr1:6324752	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	ACOT7	chr1:6341341	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A105T	SNV	missense	NA	Probably damaging	ACOT7	chr1:6399628	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	Probably damaging	ACOT7	chr1:6409921	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K53N	SNV	missense	NA	Probably damaging	HES2	chr1:6479383	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E45fs	Indel	frameshift_variant	NA	-	VAMP3	chr1:7837273	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L188P	SNV	missense	NA	Probably damaging	GPR157	chr1:9171369	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y285X	SNV	stop_gained	NA	-	C1orf127	chr1:11015167	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	MTOR-AS1	chr1:11204723	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S69fs	Indel	frameshift_variant	NA	-	UBIAD1	chr1:11333788	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L251P	SNV	missense	NA	Probably damaging	UBIAD1	chr1:11345923	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G252_A253insARRG	Indel	disruptive_inframe_insertion	NA	-	PTCHD2	chr1:11561791	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y619fs	Indel	frameshift_variant	NA	-	PTCHD2	chr1:11577621	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R417fs	Indel	frameshift_variant	NA	-	PRAMEF6	chr1:13109019	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I185fs	Indel	frameshift_variant	NA	-	PRDM2	chr1:14099610	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R736W	SNV	missense	NA	Probably damaging	PRDM2	chr1:14106496	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R1609W	SNV	missense	NA	Probably damaging	PRDM2	chr1:14109115	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W229R	SNV	missense	NA	Probably damaging	CTRC	chr1:15772137	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R193H	SNV	missense	NA	Probably damaging	CASP9	chr1:15833446	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A118D	SNV	missense	NA	Probably damaging	SLC25A34	chr1:16063333	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G304S	SNV	missense	NA	Probably damaging	FBXO42	chr1:16579602	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P173S	SNV	missense	NA	Probably damaging	FBXO42	chr1:16583240	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D30N	SNV	missense	NA	-	SZRD1	chr1:16719769	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T700fs	Indel	frameshift_variant	NA	-	TAS1R2	chr1:19166501	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TAS1R2	chr1:19168222	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N326I	SNV	missense	NA	Probably damaging	AKR7A2	chr1:19630822	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y173S	SNV	missense	NA	Probably damaging	AKR7A2	chr1:19634725	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y411C	SNV	missense	NA	Probably damaging	TMCO4	chr1:20063897	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E339D	SNV	missense	NA	Probably damaging	TMCO4	chr1:20067295	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S242L	SNV	missense	NA	Probably damaging	TMCO4	chr1:20072981	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P107R	SNV	missense	NA	Probably damaging	TMCO4	chr1:20097835	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y29fs	Indel	frameshift_variant	NA	-	FAM43B	chr1:20879547	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R411W	SNV	missense	NA	Probably damaging	DDOST	chr1:20979012	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	CDC42	chr1:22405075	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D75N	SNV	missense	NA	Probably damaging	ID3	chr1:23885695	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R307C	SNV	missense	NA	Probably damaging	FUCA1	chr1:24180900	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S483fs	Indel	frameshift_variant	NA	-	IL22RA1	chr1:24447571	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R326del	Indel	disruptive_inframe_deletion	NA	-	SRRM1	chr1:24979453	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K826fs	Indel	frameshift_variant	NA	-	SRRM1	chr1:24997911	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y401X	SNV	stop_gained	NA	-	RHD	chr1:25648429	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q26X	SNV	stop_gained	NA	-	PAQR7	chr1:26190255	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R163X	SNV	stop_gained	NA	-	PDIK1L	chr1:26448529	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M225K	SNV	missense	NA	Probably damaging	PDIK1L	chr1:26448716	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A102V	SNV	missense	NA	Probably damaging	ZNF593	chr1:26497107	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G136D	SNV	missense	NA	-	ZNF593	chr1:26497115	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T73fs	Indel	frameshift_variant	NA	-	C1orf172	chr1:27278655	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P18fs	Indel	frameshift_variant	NA	-	FCN3	chr1:27701258	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D87N	SNV	missense	NA	Probably damaging	PPP1R8	chr1:28165351	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	ATPIF1	chr1:28562696	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A147D	SNV	missense	NA	Probably damaging	TAF12	chr1:28931894	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H71fs	Indel	frameshift_variant	NA	-	GMEB1	chr1:29016668	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T326fs	Indel	frameshift_variant	NA	-	YTHDF2	chr1:29069755	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H466R	SNV	missense	NA	Probably damaging	YTHDF2	chr1:29070179	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	MECR	chr1:29520545	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E326X	SNV	stop_gained	NA	-	MECR	chr1:29520680	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C263Y	SNV	missense	NA	Probably damaging	MECR	chr1:29527070	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	IQCC	chr1:32671753	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q161X	SNV	stop_gained	NA	-	IQCC	chr1:32672164	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R34L	SNV	missense	NA	Probably damaging	HDAC1	chr1:32768273	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	HDAC1	chr1:32768335	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S69R	SNV	missense	NA	Probably damaging	HDAC1	chr1:32782310	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R323X	SNV	stop_gained	NA	-	SYNC	chr1:33160732	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M587fs	Indel	frameshift_variant	NA	-	RNF19B	chr1:33402845	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S404X	SNV	stop_gained	NA	-	ZNF362	chr1:33764595	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L419fs	Indel	frameshift_variant	NA	-	ZNF362	chr1:33764633	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G385R	SNV	missense	NA	Probably damaging	COL8A2	chr1:36564129	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G162fs	Indel	frameshift_variant	NA	Probably damaging	COL8A2	chr1:36564798	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	COL8A2	chr1:36565650	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I12fs	Indel	frameshift_variant	NA	-	LSM10	chr1:36859696	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R263X	SNV	stop_gained	NA	-	DNALI1	chr1:38027826	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L136del	Indel	disruptive_inframe_deletion	NA	-	C1orf122	chr1:38274730	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P2S	SNV	missense	NA	Probably damaging	NDUFS5	chr1:39494400	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R275X	SNV	stop_gained	NA	-	COL9A2	chr1:40775633	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G208R	SNV	missense	NA	Probably damaging	COL9A2	chr1:40776773	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E171fs	Indel	frameshift_variant	NA	-	EXO5	chr1:40980723	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H289fs	Indel	frameshift_variant	NA	-	ZNF684	chr1:41012856	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R219C	SNV	missense	NA	Probably damaging	KCNQ4	chr1:41284299	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R219H	SNV	missense	NA	Probably damaging	KCNQ4	chr1:41284300	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y556X	SNV	stop_gained	NA	-	KCNQ4	chr1:41300693	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M615_R618del	Indel	inframe_deletion	NA	-	KCNQ4	chr1:41303431	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	KCNQ4	chr1:41303468	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I318fs	Indel	frameshift_variant	NA	-	CCDC30	chr1:43042783	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q412fs	Indel	frameshift_variant	NA	-	CCDC30	chr1:43055003	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	CCDC30	chr1:43103048	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L720fs	Indel	frameshift_variant	NA	-	CCDC30	chr1:43119503	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q777X	SNV	stop_gained	NA	-	CCDC30	chr1:43119676	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L71R	SNV	missense	NA	Probably damaging	CLDN19	chr1:43205523	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W27X	SNV	stop_gained	NA	-	TMEM125	chr1:43738474	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R175fs	Indel	frameshift_variant	NA	-	ARTN	chr1:44402239	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I109N	SNV	missense	NA	Probably damaging	IPO13	chr1:44415330	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A328P	SNV	missense	NA	Probably damaging	DPH2	chr1:44437556	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T154M	SNV	missense	NA	Probably damaging	ERI3	chr1:44804745	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R306L	SNV	missense	NA	Probably damaging	RNF220	chr1:45098025	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A434T	SNV	missense	NA	Probably damaging	RNF220	chr1:45110743	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E95X	SNV	stop_gained	NA	-	TMEM53	chr1:45120782	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R300X	SNV	stop_gained	NA	-	PLK3	chr1:45268775	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y478X	SNV	stop_gained	NA	-	PLK3	chr1:45270102	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PLK3	chr1:45270320	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F326L	SNV	missense	NA	Probably damaging	HPDL	chr1:45793796	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S215P	SNV	missense	NA	Probably damaging	AKR1A1	chr1:46034247	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K240N	SNV	missense	NA	Probably damaging	AKR1A1	chr1:46034324	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S446fs	Indel	frameshift_variant	NA	-	LRRC41	chr1:46751193	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A356E	SNV	missense	NA	Probably damaging	FAAH	chr1:46874246	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P168fs	Indel	frameshift_variant	NA	-	DMBX1	chr1:46976756	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S337fs	Indel	frameshift_variant	NA	-	DMBX1	chr1:46978020	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	EFCAB14	chr1:47181966	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P254L	SNV	missense	NA	Probably damaging	SPATA6	chr1:48865042	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A223fs	Indel	frameshift_variant	NA	-	BEND5	chr1:49224649	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R1120C	SNV	missense	NA	Probably damaging	NRD1	chr1:52256219	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F1070V	SNV	missense	NA	Probably damaging	NRD1	chr1:52256619	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	NRD1	chr1:52277665	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P315L	SNV	missense	NA	Probably damaging	NRD1	chr1:52299815	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SCP2	chr1:53446216	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SCP2	chr1:53446217	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	SCP2	chr1:53513556	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G539fs	Indel	frameshift_variant	NA	-	GLIS1	chr1:53974883	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L27R	SNV	missense	NA	Probably damaging	TTC22	chr1:55266757	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E315fs	Indel	frameshift_variant	NA	-	BSND	chr1:55474276	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y12fs	Indel	frameshift_variant	NA	-	FGGY	chr1:59787254	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P98L	SNV	missense	NA	Probably damaging	FGGY	chr1:59805721	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G138A	SNV	missense	NA	Probably damaging	FGGY	chr1:59812018	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G138E	SNV	missense	NA	Probably damaging	FGGY	chr1:59812018	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H345R	SNV	missense	NA	Probably damaging	FGGY	chr1:60091682	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E390fs	Indel	frameshift_variant	NA	-	L1TD1	chr1:62675611	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N70delinsKY	Indel	disruptive_inframe_insertion	NA	-	USP1	chr1:62907196	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y143X	SNV	stop_gained	NA	-	USP1	chr1:62908862	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M583R	SNV	missense	NA	Probably damaging	USP1	chr1:62916042	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y271fs	Indel	frameshift_variant	NA	-	FOXD3	chr1:63789541	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R351fs	Indel	frameshift_variant	NA	-	EFCAB7	chr1:64017495	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L204fs	Indel	frameshift_variant	NA	-	RAVER2	chr1:65243596	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K510fs	Indel	frameshift_variant	NA	-	RAVER2	chr1:65273003	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter860SextX?	SNV	stop_lost	NA	-	SGIP1	chr1:67208777	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	INSL5	chr1:67263929	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C41S	SNV	missense	NA	Probably damaging	INSL5	chr1:67266784	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q343X	SNV	stop_gained	NA	-	C1orf141	chr1:67558864	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter230RextX?	SNV	stop_lost	NA	-	DIRAS3	chr1:68512293	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S348del	Indel	disruptive_inframe_deletion	NA	-	SRSF11	chr1:70715653	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R359W	SNV	missense	NA	-	SRSF11	chr1:70715687	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	HHLA3	chr1:70832222	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y7X	SNV	stop_gained	NA	-	PTGER3	chr1:71513240	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C15S	SNV	missense	NA	Possibly damaging	ZRANB2	chr1:71546635	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q84X	SNV	stop_gained	NA	-	FPGT	chr1:74665476	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M201fs	Indel	frameshift_variant	NA	-	TYW3	chr1:75229617	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R263X	SNV	stop_gained	NA	-	AK5	chr1:77806149	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y64H	SNV	missense	NA	Probably damaging	DNAJB4	chr1:78470984	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R307H	SNV	missense	NA	Probably damaging	DNAJB4	chr1:78481837	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G308fs	Indel	frameshift_variant	NA	Probably damaging	DNAJB4	chr1:78481838	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M37V	SNV	missense	NA	Probably damaging	PTGFR	chr1:78958537	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C186R	SNV	missense	NA	Probably damaging	PTGFR	chr1:78958984	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S838X	SNV	stop_gained	NA	-	TTLL7	chr1:84348676	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	TTLL7	chr1:84386767	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SPATA1	chr1:85014469	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R376X	SNV	stop_gained	NA	-	SSX2IP	chr1:85122120	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S167fs	Indel	frameshift_variant	NA	-	BCL10	chr1:85733512	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K267N	SNV	missense	NA	Probably damaging	DDAH1	chr1:85787192	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L430S	SNV	missense	NA	Probably damaging	ZNHIT6	chr1:86123613	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S425fs	Indel	frameshift_variant	NA	Probably damaging	ZNHIT6	chr1:86123628	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N325fs	Indel	frameshift_variant	NA	Probably damaging	ZNHIT6	chr1:86167882	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T349fs	Indel	frameshift_variant	NA	-	ODF2L	chr1:86836711	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G147E	SNV	missense	NA	Probably damaging	CLCA4	chr1:87026033	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C308R	SNV	missense	NA	Probably damaging	CLCA4	chr1:87031671	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R246H	SNV	missense	NA	Possibly damaging	SH3GLB1	chr1:87200775	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T254A	SNV	missense	NA	Probably damaging	HS2ST1	chr1:87569188	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	RP5-1052I5.2	chr1:87599400	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K784fs	Indel	frameshift_variant	NA	-	PKN2	chr1:89289993	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N391fs	Indel	frameshift_variant	NA	-	GBP4	chr1:89655743	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L272P	SNV	missense	NA	Probably damaging	GBP4	chr1:89657045	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E105X	SNV	stop_gained	NA	-	GBP6	chr1:89835227	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N300fs	Indel	frameshift_variant	NA	-	ZNF326	chr1:90478762	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R320P	SNV	missense	NA	Probably damaging	ZNF326	chr1:90482908	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K348E	SNV	missense	NA	Probably damaging	ZNF326	chr1:90482991	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R404H	SNV	missense	NA	Probably damaging	FNBP1L	chr1:94009710	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T591M	SNV	missense	NA	Probably damaging	FNBP1L	chr1:94016624	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q206fs	Indel	frameshift_variant	NA	-	GCLM	chr1:94360209	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D306dup	Indel	disruptive_inframe_insertion	NA	-	CNN3	chr1:95363367	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K46N	SNV	missense	NA	Probably damaging	TMEM56	chr1:95609595	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T178I	SNV	missense	NA	-	LPPR5	chr1:99418714	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L174F	SNV	missense	NA	Probably damaging	SLC35A3	chr1:100472641	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y306C	SNV	missense	NA	Probably damaging	SLC35A3	chr1:100483275	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter368YextX?	SNV	stop_lost	NA	Probably damaging	SLC35A3	chr1:100488032	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G353R	SNV	missense	NA	Probably damaging	DBT	chr1:100672153	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G68X	SNV	stop_gained	NA	-	RTCA	chr1:100733724	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L191S	SNV	missense	NA	-	RTCA	chr1:100740439	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	DPH5	chr1:101456103	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TAF13	chr1:109618542	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D251_Q254del	Indel	disruptive_inframe_deletion	NA	-	SYPL2	chr1:110022085	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y138fs	Indel	frameshift_variant	NA	-	GSTM2	chr1:110213956	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q41X	SNV	stop_gained	NA	-	UBL4B	chr1:110655277	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A156fs	Indel	frameshift_variant	NA	-	RBM15	chr1:110882488	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y416fs	Indel	frameshift_variant	NA	-	RBM15	chr1:110883273	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G918R	SNV	missense	NA	Probably damaging	RBM15	chr1:110884779	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S355P	SNV	missense	NA	Probably damaging	KCNA10	chr1:111060347	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C234F	SNV	missense	NA	Probably damaging	KCNA10	chr1:111060709	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C234R	SNV	missense	NA	Probably damaging	KCNA10	chr1:111060710	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	RAP1A	chr1:112246971	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A80fs	Indel	frameshift_variant	NA	-	DDX20	chr1:112298782	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CAPZA1	chr1:113189830	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	RHOC	chr1:113245298	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	RHOC	chr1:113246263	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T61I	SNV	missense	NA	-	RP11-426L16.10	chr1:113253445	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E47D	SNV	missense	NA	Probably damaging	FAM19A3	chr1:113265663	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C71Y	SNV	missense	NA	Probably damaging	FAM19A3	chr1:113265734	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R56C	SNV	missense	NA	Probably damaging	BCL2L15	chr1:114429242	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V192D	SNV	missense	NA	Probably damaging	HIPK1	chr1:114483580	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P988S	SNV	missense	NA	Probably damaging	HIPK1	chr1:114512768	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C230W	SNV	missense	NA	Probably damaging	SYT6	chr1:114680498	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter72YextX?	SNV	stop_lost	NA	Probably damaging	SYT6	chr1:114682450	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R795Q	SNV	missense	NA	Probably damaging	CSDE1	chr1:115261337	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L556S	SNV	missense	NA	Probably damaging	CSDE1	chr1:115268943	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V252del	Indel	disruptive_inframe_deletion	NA	Probably damaging	CSDE1	chr1:115276703	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D31fs	Indel	frameshift_variant	NA	-	SIKE1	chr1:115323137	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T282fs	Indel	frameshift_variant	NA	-	ATP1A1	chr1:116932148	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R385W	SNV	missense	NA	Probably damaging	ATP1A1	chr1:116932964	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R266L	SNV	missense	NA	Probably damaging	IGSF3	chr1:117156422	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P593fs	Indel	frameshift_variant	NA	-	WDR3	chr1:118493485	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F858L	SNV	missense	NA	Probably damaging	WDR3	chr1:118499809	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V80A	SNV	missense	NA	Probably damaging	RBM8A	chr1:145508508	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R156X	SNV	stop_gained	NA	-	PEX11B	chr1:145522605	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W92_L93delinsTer	Indel	stop_gained	NA	-	CD160	chr1:145698885	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F44del	Indel	disruptive_inframe_deletion	NA	-	GPR89B	chr1:147410852	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	NBPF14	chr1:148004793	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G100W	SNV	missense	NA	Probably damaging	APH1A	chr1:150240176	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G467A	SNV	missense	NA	Probably damaging	PRPF3	chr1:150315902	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P470L	SNV	missense	NA	Probably damaging	PRPF3	chr1:150315911	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P190L	SNV	missense	NA	Probably damaging	HORMAD1	chr1:150679264	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R32S	SNV	missense	NA	Probably damaging	HORMAD1	chr1:150689696	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C408fs	Indel	frameshift_variant	NA	-	FAM63A	chr1:150970652	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C406X	SNV	stop_gained	NA	-	FAM63A	chr1:150970657	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I193F	SNV	missense	NA	Probably damaging	FAM63A	chr1:150974661	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F239Y	SNV	missense	NA	Probably damaging	BNIPL	chr1:151015907	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T263R	SNV	missense	NA	Probably damaging	BNIPL	chr1:151016140	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q277fs	Indel	frameshift_variant	NA	-	C1orf56	chr1:151021151	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q220X	SNV	stop_gained	NA	-	LYSMD1	chr1:151133384	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	TMOD4	chr1:151143537	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	TMOD4	chr1:151144017	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L140P	SNV	missense	NA	Probably damaging	TMOD4	chr1:151144812	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A121fs	Indel	frameshift_variant	NA	Probably damaging	TMOD4	chr1:151146011	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R17W	SNV	missense	NA	Probably damaging	PSMD4	chr1:151234659	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V171E	SNV	missense	NA	Probably damaging	PSMD4	chr1:151237943	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q289R	SNV	missense	NA	Probably damaging	PSMD4	chr1:151238877	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R362P	SNV	missense	NA	Probably damaging	SELENBP1	chr1:151338124	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q97X	SNV	stop_gained	NA	-	SELENBP1	chr1:151341929	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C262Y	SNV	missense	NA	Probably damaging	LINGO4	chr1:151774396	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G178R	SNV	missense	NA	Probably damaging	LINGO4	chr1:151774649	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H152L	SNV	missense	NA	Probably damaging	THEM4	chr1:151860851	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SPRR1B	chr1:153004978	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E93X	SNV	stop_gained	NA	-	S100A8	chr1:153362584	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R140X	SNV	stop_gained	NA	-	CHTOP	chr1:153615717	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E193G	SNV	missense	NA	Probably damaging	CREB3L4	chr1:153945254	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RAB13	chr1:153954653	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TDRD10	chr1:154515299	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W476X	SNV	stop_gained	NA	-	KCNN3	chr1:154744472	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G438R	SNV	missense	NA	Probably damaging	KCNN3	chr1:154744587	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D380V	SNV	missense	NA	Probably damaging	PYGO2	chr1:154931337	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D380Y	SNV	missense	NA	Probably damaging	PYGO2	chr1:154931338	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T120fs	Indel	frameshift_variant	NA	Probably damaging	PYGO2	chr1:154932117	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q81fs	Indel	frameshift_variant	NA	-	EFNA1	chr1:155103964	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W163C	SNV	missense	NA	Probably damaging	MTX1	chr1:155179084	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RUSC1-AS1	chr1:155287797	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N104S	SNV	missense	NA	Probably damaging	SSR2	chr1:155984804	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	SSR2	chr1:155988060	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R574C	SNV	missense	NA	Probably damaging	UBQLN4	chr1:156006855	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P20R	SNV	missense	NA	Probably damaging	UBQLN4	chr1:156023434	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q124H	SNV	missense	NA	Probably damaging	SLC25A44	chr1:156170010	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	SLC25A44	chr1:156170020	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	SLC25A44	chr1:156170021	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y193H	SNV	missense	NA	Probably damaging	SLC25A44	chr1:156170215	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A382G	SNV	missense	NA	Probably damaging	SMG5	chr1:156236442	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L125H	SNV	missense	NA	Probably damaging	SMG5	chr1:156246956	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H102fs	Indel	frameshift_variant	NA	Probably damaging	SMG5	chr1:156247025	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y74C	SNV	missense	NA	Probably damaging	SMG5	chr1:156247792	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y368X	SNV	stop_gained	NA	-	RHBG	chr1:156351984	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L346P	SNV	missense	NA	Probably damaging	ISG20L2	chr1:156693166	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R315Q	SNV	missense	NA	-	RRNAD1	chr1:156704108	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E233fs	Indel	frameshift_variant	NA	-	HDGF	chr1:156713509	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E233fs	Indel	frameshift_variant	NA	-	HDGF	chr1:156713510	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y1145fs	Indel	frameshift_variant	NA	-	INSRR	chr1:156811548	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V929fs	Indel	frameshift_variant	NA	-	INSRR	chr1:156814025	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I13fs	Indel	frameshift_variant	NA	-	OR6K2	chr1:158670406	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S62fs	Indel	frameshift_variant	NA	-	DARC	chr1:159175405	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E11fs	Indel	frameshift_variant	NA	-	OR10J3	chr1:159284418	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E61X	SNV	stop_gained	NA	-	VSIG8	chr1:159828571	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TAGLN2	chr1:159890118	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L394F	SNV	missense	NA	Probably damaging	PIGM	chr1:160000348	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A146T	SNV	missense	NA	Probably damaging	PIGM	chr1:160001094	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P567fs	Indel	frameshift_variant	NA	-	IGSF8	chr1:160062096	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V343fs	Indel	frameshift_variant	NA	-	IGSF8	chr1:160062999	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q112X	SNV	stop_gained	NA	-	DCAF8	chr1:160249632	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PEX19	chr1:160252205	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H58D	SNV	missense	NA	Probably damaging	NCSTN	chr1:160314598	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I338F	SNV	missense	NA	Probably damaging	NCSTN	chr1:160322692	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N200Y	SNV	missense	NA	Probably damaging	CD48	chr1:160651046	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E274fs	Indel	frameshift_variant	NA	-	ITLN2	chr1:160917723	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R335X	SNV	stop_gained	NA	-	DEDD	chr1:161091981	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	UFC1	chr1:161126788	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G62R	SNV	missense	NA	Probably damaging	UFC1	chr1:161126800	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F121V	SNV	missense	NA	Probably damaging	UFC1	chr1:161127939	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R254X	SNV	stop_gained	NA	-	USP21	chr1:161132159	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	USP21	chr1:161134926	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D256A	SNV	missense	NA	Possibly damaging	NDUFS2	chr1:161179965	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SDHC	chr1:161326631	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P76fs	Indel	frameshift_variant	NA	-	C1orf192	chr1:161335436	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	FCGR2A	chr1:161480622	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	HSPA6	chr1:161495154	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	C1orf110	chr1:162829434	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N135H	SNV	missense	NA	Probably damaging	LRRC52	chr1:165513936	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y65C	SNV	missense	NA	Probably damaging	UCK2	chr1:165859535	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R146Q	SNV	missense	NA	Probably damaging	UCK2	chr1:165865507	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter435SextX?	SNV	stop_lost	NA	-	MAEL	chr1:166991091	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y122fs	Indel	frameshift_variant	NA	-	CREG1	chr1:167517349	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R173X	SNV	stop_gained	NA	-	RCSD1	chr1:167666378	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D142H	SNV	missense	NA	Probably damaging	MPZL1	chr1:167741677	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A57P	SNV	missense	NA	Probably damaging	XCL2	chr1:168511238	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y484X	SNV	stop_gained	NA	-	MROH9	chr1:170965762	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	MYOC	chr1:171605511	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A182T	SNV	missense	NA	Probably damaging	PIGC	chr1:172411219	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	C1orf105	chr1:172414299	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R95fs	Indel	frameshift_variant	NA	-	C1orf105	chr1:172431327	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L149fs	Indel	frameshift_variant	NA	-	TNFSF18	chr1:173010657	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RP4-798P15.3	chr1:177930079	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R17fs	Indel	frameshift_variant	NA	-	TEX35	chr1:178482367	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q137fs	Indel	frameshift_variant	NA	-	TEX35	chr1:178489876	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A433T	SNV	missense	NA	Probably damaging	ANGPTL1	chr1:178820443	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	GLUL	chr1:182353644	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E203D	SNV	missense	NA	Probably damaging	GLUL	chr1:182354686	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G200V	SNV	missense	NA	Probably damaging	NMNAT2	chr1:183247740	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R66H	SNV	missense	NA	Probably damaging	NMNAT2	chr1:183261970	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P50H	SNV	missense	NA	Probably damaging	NMNAT2	chr1:183262865	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A214V	SNV	missense	NA	Probably damaging	SMG7	chr1:183498111	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D369N	SNV	missense	NA	Probably damaging	SMG7	chr1:183502909	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T444fs	Indel	frameshift_variant	NA	Probably damaging	SMG7	chr1:183510150	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N684fs	Indel	frameshift_variant	NA	Probably damaging	SMG7	chr1:183514265	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H132R	SNV	missense	NA	Probably damaging	ARPC5	chr1:183599603	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G103fs	Indel	frameshift_variant	NA	-	APOBEC4	chr1:183617609	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E625fs	Indel	frameshift_variant	NA	-	COLGALT2	chr1:183907894	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y401C	SNV	missense	NA	-	COLGALT2	chr1:183914633	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y115X	SNV	stop_gained	NA	-	COLGALT2	chr1:183947573	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y113S	SNV	missense	NA	-	COLGALT2	chr1:183947580	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S148fs	Indel	frameshift_variant	NA	-	TSEN15	chr1:184041377	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L517S	SNV	missense	NA	Probably damaging	PTGS2	chr1:186643750	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E150X	SNV	stop_gained	NA	-	RGS18	chr1:192150586	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RGS13	chr1:192627330	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L141fs	Indel	frameshift_variant	NA	-	RGS13	chr1:192628590	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y183fs	Indel	frameshift_variant	NA	-	CFHR4	chr1:196876099	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S310fs	Indel	frameshift_variant	NA	-	CFHR4	chr1:196879540	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	CRB1	chr1:197237610	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CRB1	chr1:197446792	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L85H	SNV	missense	NA	Probably damaging	NEK7	chr1:198231760	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H56fs	Indel	frameshift_variant	NA	-	NR5A2	chr1:200008888	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R160Q	SNV	missense	NA	Probably damaging	NR5A2	chr1:200017315	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S130C	SNV	missense	NA	Probably damaging	TNNI1	chr1:201380552	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R114H	SNV	missense	NA	Probably damaging	TNNI1	chr1:201380600	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	TNNI1	chr1:201386248	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R320X	SNV	stop_gained	NA	-	ADIPOR1	chr1:202911194	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P59L	SNV	missense	NA	Probably damaging	BTG2	chr1:203276265	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R272W	SNV	missense	NA	Probably damaging	RBBP5	chr1:205069131	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D311N	SNV	missense	NA	Probably damaging	TMCC2	chr1:205238261	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P454fs	Indel	frameshift_variant	NA	Probably damaging	TMCC2	chr1:205238690	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N180S	SNV	missense	NA	Probably damaging	NUAK2	chr1:205277324	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P355A	SNV	missense	NA	-	ELK4	chr1:205589111	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L155fs	Indel	frameshift_variant	NA	-	ELK4	chr1:205589709	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	RAB7L1	chr1:205744084	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G154D	SNV	missense	NA	Probably damaging	PM20D1	chr1:205814481	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y375C	SNV	missense	NA	Probably damaging	DYRK3	chr1:206821667	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D416A	SNV	missense	NA	Probably damaging	DYRK3	chr1:206821790	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L165R	SNV	missense	NA	Probably damaging	IL20	chr1:207041872	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C107F	SNV	missense	NA	Probably damaging	IL24	chr1:207074852	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C53X	SNV	stop_gained	NA	-	FCAMR	chr1:207140407	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A48V	SNV	missense	NA	Probably damaging	PFKFB2	chr1:207235355	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	PFKFB2	chr1:207236767	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L304S	SNV	missense	NA	Probably damaging	PFKFB2	chr1:207241578	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E547X	SNV	stop_gained	NA	-	C4BPA	chr1:207317907	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	CR1	chr1:207785388	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E326X	SNV	stop_gained	NA	-	CD34	chr1:208061265	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q284R	SNV	missense	NA	Probably damaging	CD34	chr1:208062148	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C25X	SNV	stop_gained	NA	-	CD34	chr1:208073202	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L26fs	Indel	frameshift_variant	NA	-	CD34	chr1:208084348	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I208F	SNV	missense	NA	Probably damaging	CAMK1G	chr1:209781265	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	HSD11B1	chr1:209880138	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S146I	SNV	missense	NA	Probably damaging	HSD11B1	chr1:209880393	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L159_P160insGL	Indel	inframe_insertion	NA	-	SLC30A1	chr1:211751477	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q662X	SNV	stop_gained	NA	-	INTS7	chr1:212141881	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P279R	SNV	missense	NA	-	MARC2	chr1:220953533	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E109A	SNV	missense	NA	-	MARC1	chr1:220964883	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R332Q	SNV	missense	NA	Probably damaging	HLX	chr1:221057574	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C451X	SNV	stop_gained	NA	-	HLX	chr1:221057932	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F258fs	Indel	frameshift_variant	NA	-	AIDA	chr1:222843524	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P22del	Indel	inframe_deletion	NA	-	FAM177B	chr1:222919948	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	FAM177B	chr1:222923261	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L181F	SNV	missense	NA	Probably damaging	FBXO28	chr1:224340870	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G257V	SNV	missense	NA	Probably damaging	DEGS1	chr1:224377966	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K264M	SNV	missense	NA	Probably damaging	WNT3A	chr1:228246898	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W369C	SNV	missense	NA	Probably damaging	TAF5L	chr1:229730707	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R248X	SNV	stop_gained	NA	-	TAF5L	chr1:229738172	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q422X	SNV	stop_gained	NA	-	PGBD5	chr1:230468689	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A121V	SNV	missense	NA	Probably damaging	C1orf198	chr1:230991436	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	FAM89A	chr1:231155873	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R59delinsPG	Indel	disruptive_inframe_insertion	NA	-	NTPCR	chr1:233091443	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T143A	SNV	missense	NA	-	NTPCR	chr1:233105787	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G303V	SNV	missense	NA	Probably damaging	SLC35F3	chr1:234452427	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P121H	SNV	missense	NA	-	COA6	chr1:234510125	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q181X	SNV	stop_gained	NA	-	B3GALNT2	chr1:235647652	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	EDARADD	chr1:236557745	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W2X	SNV	stop_gained	NA	-	ZP4	chr1:238053930	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C517S	SNV	missense	NA	Probably damaging	CHRM3	chr1:240072301	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q46X	SNV	stop_gained	NA	-	GREM2	chr1:240656640	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	KMO	chr1:241712199	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L66F	SNV	missense	NA	Probably damaging	KMO	chr1:241713050	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W415X	SNV	stop_gained	NA	-	KMO	chr1:241753550	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q1017X	SNV	stop_gained	NA	-	CEP170	chr1:243328213	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D521G	SNV	missense	NA	Probably damaging	CEP170	chr1:243349085	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q60H	SNV	missense	NA	Probably damaging	AKT3	chr1:243828178	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P470S	SNV	missense	NA	Probably damaging	HNRNPU	chr1:245021399	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E279dup	Indel	disruptive_inframe_insertion	NA	Probably damaging	HNRNPU	chr1:245025800	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K744del	Indel	inframe_deletion	NA	-	AHCTF1	chr1:247053284	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S431fs	Indel	frameshift_variant	NA	-	ZNF669	chr1:247263780	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L7fs	Indel	frameshift_variant	NA	-	ZNF669	chr1:247267482	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F215fs	Indel	frameshift_variant	NA	-	ZNF124	chr1:247320279	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ZNF124	chr1:247322307	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E299X	SNV	stop_gained	NA	-	OR11L1	chr1:248004304	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P58S	SNV	missense	NA	Probably damaging	OR2W3	chr1:248059060	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P79S	SNV	missense	NA	Probably damaging	OR2W3	chr1:248059123	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L101V	SNV	missense	NA	Probably damaging	OR2W3	chr1:248059189	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L113fs	Indel	frameshift_variant	NA	Probably damaging	OR2W3	chr1:248059220	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R303fs	Indel	frameshift_variant	NA	Probably damaging	OR2W3	chr1:248059795	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S20X	SNV	stop_gained	NA	-	OR2L5	chr1:248185308	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y276fs	Indel	frameshift_variant	NA	-	OR14C36	chr1:248512902	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T210fs	Indel	frameshift_variant	NA	-	OR2T1	chr1:248569921	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C291fs	Indel	frameshift_variant	NA	-	OR2T1	chr1:248570164	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L162fs	Indel	frameshift_variant	NA	-	OR2T3	chr1:248637133	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y225C	SNV	missense	NA	Probably damaging	SH3BP5L	chr1:249107225	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y25fs	Indel	frameshift_variant	NA	-	ZNF672	chr1:249141546	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K326X	SNV	stop_gained	NA	-	ZNF692	chr1:249149656	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F219del	Indel	inframe_deletion	NA	-	FAM110C	chr2:45728	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S195fs	Indel	frameshift_variant	NA	-	SNTG2	chr2:1168858	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A271fs	Indel	frameshift_variant	NA	-	SNTG2	chr2:1241748	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G172fs	Indel	frameshift_variant	NA	-	RPS7	chr2:3627852	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G306fs	Indel	frameshift_variant	NA	-	SOX11	chr2:5833767	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E57G	SNV	missense	NA	Probably damaging	RNF144A	chr2:7154619	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C214Y	SNV	missense	NA	Probably damaging	RNF144A	chr2:7164631	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q140X	SNV	stop_gained	NA	-	YWHAQ	chr2:9731521	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	RRM2	chr2:10264892	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R248H	SNV	missense	NA	Probably damaging	ATP6V1C2	chr2:10915115	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L366P	SNV	missense	NA	Probably damaging	ATP6V1C2	chr2:10922404	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D95H	SNV	missense	NA	Probably damaging	C2orf50	chr2:11280661	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PQLC3	chr2:11312050	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W150G	SNV	missense	NA	Probably damaging	PQLC3	chr2:11312144	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C120X	SNV	stop_gained	NA	-	FAM84A	chr2:14774463	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R32X	SNV	stop_gained	NA	-	FAM49A	chr2:16747012	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y15C	SNV	missense	NA	Probably damaging	LAPTM4A	chr2:20251238	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y299H	SNV	missense	NA	Probably damaging	SDC1	chr2:20402565	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E283K	SNV	missense	NA	Probably damaging	SDC1	chr2:20402613	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N44fs	Indel	frameshift_variant	NA	-	FKBP1B	chr2:24283726	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H1418R	SNV	missense	NA	Probably damaging	ASXL2	chr2:25964953	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A1406V	SNV	missense	NA	Probably damaging	ASXL2	chr2:25964989	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R39W	SNV	missense	NA	-	DRC1	chr2:26624972	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E270K	SNV	missense	NA	-	DRC1	chr2:26654794	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R130G	SNV	missense	NA	Probably damaging	CENPA	chr2:27016112	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L310fs	Indel	frameshift_variant	NA	-	DPYSL5	chr2:27157582	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M311fs	Indel	frameshift_variant	NA	-	DPYSL5	chr2:27157586	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F93V	SNV	missense	NA	Probably damaging	UCN	chr2:27530487	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R104H	SNV	missense	NA	Probably damaging	NRBP1	chr2:27656640	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	KRTCAP3	chr2:27665473	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter55QextX?	SNV	stop_lost	NA	-	MRPL33	chr2:28002421	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	RBKS	chr2:28113155	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P61L	SNV	missense	NA	Probably damaging	BRE	chr2:28152752	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W375fs	Indel	frameshift_variant	NA	Probably damaging	BRE	chr2:28550173	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K140T	SNV	missense	NA	Probably damaging	PPP1CB	chr2:29004607	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SPDYA	chr2:29041973	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P113L	SNV	missense	NA	Probably damaging	YIPF4	chr2:32517350	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q499X	SNV	stop_gained	NA	-	FAM98A	chr2:33809905	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N208K	SNV	missense	NA	Probably damaging	FAM98A	chr2:33811725	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G186del	Indel	disruptive_inframe_deletion	NA	-	GPATCH11	chr2:37319346	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G124V	SNV	missense	NA	-	NDUFAF7	chr2:37464973	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q264X	SNV	stop_gained	NA	-	NDUFAF7	chr2:37471114	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q227fs	Indel	frameshift_variant	NA	-	RMDN2	chr2:38179036	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q297fs	Indel	frameshift_variant	NA	-	RMDN2	chr2:38179246	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M216K	SNV	missense	NA	-	TMEM178A	chr2:39934321	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P240S	SNV	missense	NA	-	TMEM178A	chr2:39944215	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G60V	SNV	missense	NA	Probably damaging	HAAO	chr2:43010988	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C23Y	SNV	missense	NA	Probably damaging	HAAO	chr2:43019609	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L135del	Indel	disruptive_inframe_deletion	NA	-	ZFP36L2	chr2:43452538	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E19X	SNV	stop_gained	NA	-	ZFP36L2	chr2:43452888	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R180W	SNV	missense	NA	Probably damaging	SIX2	chr2:45235712	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K132M	SNV	missense	NA	Probably damaging	SIX2	chr2:45235855	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L66F	SNV	missense	NA	Probably damaging	SIX2	chr2:45236054	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G53W	SNV	missense	NA	Probably damaging	RHOQ	chr2:46770907	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G170V	SNV	missense	NA	Probably damaging	RHOQ	chr2:46808113	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L88R	SNV	missense	NA	Probably damaging	MCFD2	chr2:47134995	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	C2orf61	chr2:47382309	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	EPCAM	chr2:47602439	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K246I	SNV	missense	NA	Probably damaging	EPCAM	chr2:47606189	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R448W	SNV	missense	NA	Probably damaging	FBXO11	chr2:48059544	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P191_G192insGP	Indel	disruptive_inframe_insertion	NA	-	TSPYL6	chr2:54482716	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K118fs	Indel	frameshift_variant	NA	-	C2orf73	chr2:54570973	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P246fs	Indel	frameshift_variant	NA	-	CCDC85A	chr2:56420069	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	FANCL	chr2:58390069	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P184del	Indel	disruptive_inframe_deletion	NA	-	FANCL	chr2:58425715	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y330fs	Indel	frameshift_variant	NA	-	PEX13	chr2:61275680	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E954G	SNV	missense	NA	Probably damaging	XPO1	chr2:61709626	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y381H	SNV	missense	NA	Probably damaging	XPO1	chr2:61721133	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G105R	SNV	missense	NA	Probably damaging	MEIS1	chr2:66667048	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q124X	SNV	stop_gained	NA	-	C1D	chr2:68273128	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G86R	SNV	missense	NA	Probably damaging	WDR92	chr2:68374627	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S248X	SNV	stop_gained	NA	-	PNO1	chr2:68401918	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E101K	SNV	missense	NA	-	RP11-474G23.1	chr2:68413734	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter138fs	Indel	frameshift_variant	NA	-	CNRIP1	chr2:68544206	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H392Y	SNV	missense	NA	Probably damaging	APLF	chr2:68772332	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E166X	SNV	stop_gained	NA	-	GKN1	chr2:69207183	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G132V	SNV	missense	NA	Probably damaging	AAK1	chr2:69769794	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D2H	SNV	missense	NA	Probably damaging	PCBP1	chr2:70314879	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	TIA1	chr2:70475561	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L286P	SNV	missense	NA	Probably damaging	CYP26B1	chr2:72361894	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V28fs	Indel	frameshift_variant	NA	Probably damaging	CYP26B1	chr2:72374886	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q197fs	Indel	frameshift_variant	NA	-	DGUOK	chr2:74177853	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R369H	SNV	missense	NA	Probably damaging	DCTN1	chr2:74597614	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M2del	Indel	disruptive_inframe_deletion	NA	Probably damaging	DCTN1	chr2:74601472	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q206H	SNV	missense	NA	Probably damaging	TLX2	chr2:74742977	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P576S	SNV	missense	NA	Probably damaging	DQX1	chr2:74746763	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T195A	SNV	missense	NA	Probably damaging	HTRA2	chr2:74757820	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	HTRA2	chr2:74758830	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E133Q	SNV	missense	NA	-	EVA1A	chr2:75720424	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I232fs	Indel	frameshift_variant	NA	-	TGOLN2	chr2:85554165	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K103fs	Indel	frameshift_variant	NA	-	TGOLN2	chr2:85554546	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S98X	SNV	stop_gained	NA	-	TGOLN2	chr2:85554562	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S55fs	Indel	frameshift_variant	NA	-	GNLY	chr2:85924635	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G201R	SNV	missense	NA	Probably damaging	ST3GAL5	chr2:86075045	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H28R	SNV	missense	NA	-	CHMP3	chr2:86847502	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L363P	SNV	missense	NA	Probably damaging	RMND5A	chr2:86998811	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S10Y	SNV	missense	NA	Probably damaging	KRCC1	chr2:88328054	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C68Y	SNV	missense	NA	Probably damaging	SMYD1	chr2:88383900	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	SMYD1	chr2:88384012	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W34X	SNV	stop_gained	NA	-	RPIA	chr2:88991317	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G115D	SNV	missense	NA	Probably damaging	MRPS5	chr2:95775720	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T25fs	Indel	frameshift_variant	NA	-	ANKRD39	chr2:97523652	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y139C	SNV	missense	NA	Probably damaging	SEMA4C	chr2:97531407	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V299A	SNV	missense	NA	Probably damaging	FAHD2B	chr2:97749541	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	ANKRD36B	chr2:98169705	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D70fs	Indel	frameshift_variant	NA	-	MITD1	chr2:99790422	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M69T	SNV	missense	NA	Probably damaging	MITD1	chr2:99790425	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P539L	SNV	missense	NA	Probably damaging	LONRF2	chr2:100910832	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	LONRF2	chr2:100919381	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T333N	SNV	missense	NA	Probably damaging	CHST10	chr2:101009924	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V115D	SNV	missense	NA	Probably damaging	PDCL3	chr2:101186159	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y115fs	Indel	frameshift_variant	NA	-	IL1R2	chr2:102632341	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y204C	SNV	missense	NA	Probably damaging	IL1R2	chr2:102636197	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y301X	SNV	stop_gained	NA	-	IL1RL1	chr2:102959808	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S17fs	Indel	frameshift_variant	NA	-	IL18R1	chr2:102979166	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	IL18R1	chr2:102979179	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T263I	SNV	missense	NA	Probably damaging	GPR45	chr2:105859103	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	LIMS1	chr2:109297224	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q39fs	Indel	frameshift_variant	NA	-	EDAR	chr2:109546635	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q47X	SNV	stop_gained	NA	-	FBLN7	chr2:112917316	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E227X	SNV	stop_gained	NA	-	FBLN7	chr2:112940376	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C240fs	Indel	frameshift_variant	NA	-	FBLN7	chr2:112940414	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C14G	SNV	missense	NA	Probably damaging	IL1A	chr2:113541308	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E40X	SNV	stop_gained	NA	-	IL1F10	chr2:113832299	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C111R	SNV	missense	NA	Probably damaging	INSIG2	chr2:118860859	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N379K	SNV	missense	NA	Probably damaging	EN1	chr2:119600556	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	C2orf76	chr2:120097401	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A102fs	Indel	frameshift_variant	NA	-	TMEM177	chr2:120438729	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P197R	SNV	missense	NA	Probably damaging	TMEM177	chr2:120439019	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y242C	SNV	missense	NA	Probably damaging	TMEM177	chr2:120439154	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	PTPN4	chr2:120725513	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W179S	SNV	missense	NA	Probably damaging	INHBB	chr2:121106762	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H119D	SNV	missense	NA	Probably damaging	GLI2	chr2:121708919	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R720S	SNV	missense	NA	Probably damaging	GLI2	chr2:121744055	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y265fs	Indel	frameshift_variant	NA	-	TFCP2L1	chr2:121997200	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H170Y	SNV	missense	NA	Probably damaging	TFCP2L1	chr2:122004543	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D127N	SNV	missense	NA	Probably damaging	TFCP2L1	chr2:122006576	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K179N	SNV	missense	NA	-	NIFK	chr2:122488496	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W134fs	Indel	frameshift_variant	NA	-	NIFK	chr2:122488632	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R927H	SNV	missense	NA	Probably damaging	SAP130	chr2:128707538	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L236fs	Indel	frameshift_variant	NA	-	RAB6C	chr2:130738392	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W511X	SNV	stop_gained	NA	-	AMER3	chr2:131521177	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P516fs	Indel	frameshift_variant	NA	-	AMER3	chr2:131521190	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S75fs	Indel	frameshift_variant	NA	-	FAM168B	chr2:131813200	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L63P	SNV	missense	NA	-	MZT2A	chr2:132249580	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S793del	Indel	inframe_deletion	NA	-	ZEB2	chr2:145156374	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N434fs	Indel	frameshift_variant	NA	-	STAM2	chr2:152980327	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y6C	SNV	missense	NA	Probably damaging	GALNT13	chr2:154801027	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R141H	SNV	missense	NA	Probably damaging	GALNT13	chr2:155098653	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter46CextX?	SNV	stop_lost	NA	Probably damaging	GALNT13	chr2:155295231	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L91fs	Indel	frameshift_variant	NA	-	CD302	chr2:160637417	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y65fs	Indel	frameshift_variant	NA	-	PSMD14	chr2:162224365	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G56D	SNV	missense	NA	Probably damaging	GCG	chr2:163003950	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P849S	SNV	missense	NA	Probably damaging	KCNH7	chr2:163253318	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D730N	SNV	missense	NA	Probably damaging	KCNH7	chr2:163256918	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V662L	SNV	missense	NA	Probably damaging	KCNH7	chr2:163280016	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G651S	SNV	missense	NA	Probably damaging	KCNH7	chr2:163291711	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G586R	SNV	missense	NA	Probably damaging	KCNH7	chr2:163291906	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S55C	SNV	missense	NA	Probably damaging	KCNH7	chr2:163693190	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M351fs	Indel	frameshift_variant	NA	-	FIGN	chr2:164467290	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G278V	SNV	missense	NA	Probably damaging	FIGN	chr2:164467509	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E68G	SNV	missense	NA	-	KLHL41	chr2:170366491	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y307X	SNV	stop_gained	NA	-	SP5	chr2:171573638	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F326fs	Indel	frameshift_variant	NA	-	SP5	chr2:171573694	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P98Q	SNV	missense	NA	Probably damaging	GORASP2	chr2:171806161	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	GORASP2	chr2:171806801	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q266fs	Indel	frameshift_variant	NA	Probably damaging	GORASP2	chr2:171813004	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L321R	SNV	missense	NA	Probably damaging	TLK1	chr2:171906405	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K315del	Indel	disruptive_inframe_deletion	NA	-	CIR1	chr2:175213631	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W112C	SNV	missense	NA	Probably damaging	CHRNA1	chr2:175622377	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	KIAA1715	chr2:176829099	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D22G	SNV	missense	NA	Probably damaging	KIAA1715	chr2:176857914	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A510V	SNV	missense	NA	Probably damaging	NFE2L2	chr2:178095802	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I20T	SNV	missense	NA	Probably damaging	NFE2L2	chr2:178098986	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R353H	SNV	missense	NA	Probably damaging	AGPS	chr2:178333205	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L276Q	SNV	missense	NA	Probably damaging	PRKRA	chr2:179296939	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TTN-AS1	chr2:179395788	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	UBE2E3	chr2:181922553	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H607dup	Indel	inframe_insertion	NA	-	ZSWIM2	chr2:187692790	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C258Y	SNV	missense	NA	Probably damaging	ZSWIM2	chr2:187698728	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F87fs	Indel	frameshift_variant	NA	Probably damaging	ZSWIM2	chr2:187709468	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	ZSWIM2	chr2:187712445	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E89fs	Indel	frameshift_variant	NA	-	MSTN	chr2:190927051	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L191fs	Indel	frameshift_variant	NA	-	HIBCH	chr2:191116980	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T51K	SNV	missense	NA	-	NABP1	chr2:192543776	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter426RextX?	SNV	stop_lost	NA	-	SDPR	chr2:192700651	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S241C	SNV	missense	NA	Probably damaging	SDPR	chr2:192701206	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S234C	SNV	missense	NA	Probably damaging	SDPR	chr2:192701226	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R289H	SNV	missense	NA	Probably damaging	SF3B1	chr2:198274532	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R154L	SNV	missense	NA	Probably damaging	C2orf69	chr2:200789912	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R73del	Indel	disruptive_inframe_deletion	NA	-	CLK1	chr2:201726493	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F343C	SNV	missense	NA	-	ORC2	chr2:201791513	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D13fs	Indel	frameshift_variant	NA	-	ALS2CR12	chr2:202216090	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P175S	SNV	missense	NA	-	TMEM237	chr2:202496804	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V438D	SNV	missense	NA	Probably damaging	MPP4	chr2:202519628	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P320R	SNV	missense	NA	Probably damaging	MPP4	chr2:202539965	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D274fs	Indel	frameshift_variant	NA	Probably damaging	MPP4	chr2:202545668	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V203M	SNV	missense	NA	Probably damaging	MPP4	chr2:202547607	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I182fs	Indel	frameshift_variant	NA	Probably damaging	MPP4	chr2:202549812	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G141R	SNV	missense	NA	-	CDK15	chr2:202677258	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L238F	SNV	missense	NA	-	CDK15	chr2:202698676	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P342fs	Indel	frameshift_variant	NA	-	CDK15	chr2:202737014	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N38D	SNV	missense	NA	Probably damaging	WDR12	chr2:203772612	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L2428fs	Indel	frameshift_variant	NA	-	NBEAL1	chr2:204066394	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E265del	Indel	inframe_deletion	NA	-	RAPH1	chr2:204341816	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	RAPH1	chr2:204359955	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q216X	SNV	stop_gained	NA	-	CTLA4	chr2:204737509	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ICOS	chr2:204801597	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q60fs	Indel	frameshift_variant	NA	-	ICOS	chr2:204820471	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H70fs	Indel	frameshift_variant	NA	-	ZDBF2	chr2:207169460	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R134X	SNV	stop_gained	NA	-	ZDBF2	chr2:207169652	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E1089X	SNV	stop_gained	NA	-	ZDBF2	chr2:207172517	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S1158X	SNV	stop_gained	NA	-	ZDBF2	chr2:207172725	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q1375X	SNV	stop_gained	NA	-	ZDBF2	chr2:207173375	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V1798dup	Indel	disruptive_inframe_insertion	NA	-	ZDBF2	chr2:207174642	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y145X	SNV	stop_gained	NA	-	CRYGB	chr2:209007455	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G41A	SNV	missense	NA	Probably damaging	CRYGA	chr2:209028058	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G300V	SNV	missense	NA	Probably damaging	IDH1	chr2:209104679	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V1105fs	Indel	frameshift_variant	NA	-	MAP2	chr2:210560202	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K1104delinsMKE	Indel	disruptive_inframe_insertion	NA	-	MAP2	chr2:210560204	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E122K	SNV	missense	NA	Probably damaging	ACADL	chr2:211082696	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R87M	SNV	missense	NA	Probably damaging	ACADL	chr2:211082800	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H420R	SNV	missense	NA	Probably damaging	IKZF2	chr2:213872424	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N131K	SNV	missense	NA	Probably damaging	IKZF2	chr2:213921588	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I33F	SNV	missense	NA	Possibly damaging	IKZF2	chr2:214012492	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N107S	SNV	missense	NA	Probably damaging	PECR	chr2:216930139	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N723T	SNV	missense	NA	Probably damaging	CCDC108	chr2:219892415	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SLC23A3	chr2:220026927	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W166X	SNV	stop_gained	NA	-	SLC23A3	chr2:220033769	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E87X	SNV	stop_gained	NA	-	DES	chr2:220283443	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	KCNE4	chr2:223917550	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E133fs	Indel	frameshift_variant	NA	-	KCNE4	chr2:223917786	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R154_Ter155insCTer	Indel	disruptive_inframe_insertion	NA	-	AP1S3	chr2:224629894	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I31N	SNV	missense	NA	Possibly damaging	AP1S3	chr2:224642498	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R15G	SNV	missense	NA	Probably damaging	AP1S3	chr2:224642547	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y264N	SNV	missense	NA	Probably damaging	RHBDD1	chr2:227779001	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	COL4A4	chr2:227895158	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	COL4A4	chr2:227896660	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	COL4A4	chr2:227896773	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	MFF	chr2:228205045	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SP110	chr2:231050709	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K276_G277delinsR	Indel	splice_donor_variant	NA	-	SP110	chr2:231074644	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S163L	SNV	missense	NA	Probably damaging	CAB39	chr2:231663533	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	CAB39	chr2:231674993	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M246V	SNV	missense	NA	Probably damaging	CAB39	chr2:231682511	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	CAB39	chr2:231682577	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S76fs	Indel	frameshift_variant	NA	-	ITM2C	chr2:231738235	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R90X	SNV	stop_gained	NA	-	ITM2C	chr2:231740341	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T381I	SNV	missense	NA	Probably damaging	HTR2B	chr2:231973535	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R691X	SNV	stop_gained	NA	-	NCL	chr2:232319964	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y346S	SNV	missense	NA	Probably damaging	NMUR1	chr2:232389998	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T138M	SNV	missense	NA	Probably damaging	NMUR1	chr2:232393319	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A80dup	Indel	inframe_insertion	NA	-	COPS7B	chr2:232658971	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P185S	SNV	missense	NA	Probably damaging	SAG	chr2:234237164	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y254C	SNV	missense	NA	Probably damaging	SAG	chr2:234240313	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A311T	SNV	missense	NA	Probably damaging	SAG	chr2:234243732	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K1156fs	Indel	frameshift_variant	NA	-	USP40	chr2:234394251	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W460X	SNV	stop_gained	NA	-	USP40	chr2:234442249	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L157S	SNV	missense	NA	Probably damaging	USP40	chr2:234465613	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	USP40	chr2:234468455	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D240fs	Indel	frameshift_variant	NA	-	UGT1A6	chr2:234602362	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	UGT1A1	chr2:234669799	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K350X	SNV	stop_gained	NA	-	HJURP	chr2:234750378	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R277C	SNV	missense	NA	Probably damaging	GBX2	chr2:237074775	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E276G	SNV	missense	NA	Probably damaging	GBX2	chr2:237074777	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W139C	SNV	missense	NA	Probably damaging	RAMP1	chr2:238820395	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G146C	SNV	missense	NA	Probably damaging	RAMP1	chr2:238820414	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G107S	SNV	missense	NA	Probably damaging	SCLY	chr2:238976798	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q126X	SNV	stop_gained	NA	-	SCLY	chr2:238977986	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D308V	SNV	missense	NA	Probably damaging	ILKAP	chr2:239082208	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R155X	SNV	stop_gained	NA	-	TRAF3IP1	chr2:239237435	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E258fs	Indel	frameshift_variant	NA	-	TRAF3IP1	chr2:239237836	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K259fs	Indel	frameshift_variant	NA	-	TRAF3IP1	chr2:239237838	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P469A	SNV	missense	NA	Probably damaging	TRAF3IP1	chr2:239258003	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	TRAF3IP1	chr2:239307393	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S716L	SNV	missense	NA	Probably damaging	HDAC4	chr2:240024543	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T653M	SNV	missense	NA	Probably damaging	HDAC4	chr2:240033227	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P522fs	Indel	frameshift_variant	NA	Probably damaging	HDAC4	chr2:240036959	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R132W	SNV	missense	NA	Probably damaging	HDAC4	chr2:240098205	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L276F	SNV	missense	NA	Probably damaging	NDUFA10	chr2:240951047	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P241L	SNV	missense	NA	Probably damaging	NDUFA10	chr2:240954223	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	KIF1A	chr2:241705133	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T221M	SNV	missense	NA	Probably damaging	ING5	chr2:242662668	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H164fs	Indel	frameshift_variant	NA	-	AC026202.1	chr3:5229492	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W481X	SNV	stop_gained	NA	-	ARPC4-TTLL3	chr3:9870785	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C38fs	Indel	frameshift_variant	NA	-	FANCD2OS	chr3:10146346	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T23fs	Indel	frameshift_variant	NA	-	FANCD2OS	chr3:10146390	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V7fs	Indel	frameshift_variant	NA	-	GHRL	chr3:10331845	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A334T	SNV	missense	NA	Probably damaging	SLC6A1	chr3:11067967	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E306K	SNV	missense	NA	Probably damaging	MKRN2	chr3:12618188	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W379L	SNV	missense	NA	Probably damaging	MKRN2	chr3:12623637	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter417SextX?	SNV	stop_lost	NA	Probably damaging	MKRN2	chr3:12623751	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	frameshift_variant	NA	-	IQSEC1	chr3:12940888	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q62X	SNV	stop_gained	NA	-	IQSEC1	chr3:12983205	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	HDAC11	chr3:13544481	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I359fs	Indel	frameshift_variant	NA	-	SLC6A6	chr3:14509693	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	GRIP2	chr3:14555172	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	GRIP2	chr3:14581775	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	FGD5-AS1	chr3:14963913	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L740del	Indel	disruptive_inframe_deletion	NA	-	ZFYVE20	chr3:15115424	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q499X	SNV	stop_gained	NA	-	ZFYVE20	chr3:15116149	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L485P	SNV	missense	NA	Probably damaging	ZFYVE20	chr3:15116190	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S222fs	Indel	frameshift_variant	NA	Probably damaging	ZFYVE20	chr3:15124049	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N401dup	Indel	inframe_insertion	NA	-	SH3BP5	chr3:15297757	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter58WextX?	SNV	stop_lost	NA	-	SH3BP5	chr3:15300355	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R381W	SNV	missense	NA	Probably damaging	TGFBR2	chr3:30713741	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S13L	SNV	missense	NA	Probably damaging	GPD1L	chr3:32148241	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	GPD1L	chr3:32188227	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y135X	SNV	stop_gained	NA	-	CMTM7	chr3:32491017	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q646X	SNV	stop_gained	NA	-	DCLK3	chr3:36756830	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R110fs	Indel	frameshift_variant	NA	-	DCLK3	chr3:36779823	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I111T	SNV	missense	NA	Probably damaging	CTDSPL	chr3:38006126	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	ACVR2B	chr3:38519864	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C319Y	SNV	missense	NA	Probably damaging	CX3CR1	chr3:39307141	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A106G	SNV	missense	NA	Probably damaging	CX3CR1	chr3:39307780	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	EIF1B	chr3:40353063	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W47X	SNV	stop_gained	NA	-	ZNF662	chr3:42949564	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E126del	Indel	disruptive_inframe_deletion	NA	-	ABHD5	chr3:43743944	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N306K	SNV	missense	NA	Probably damaging	SACM1L	chr3:45765032	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y481C	SNV	missense	NA	Probably damaging	SACM1L	chr3:45780129	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W168C	SNV	missense	NA	Probably damaging	CCRL2	chr3:46450038	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P122L	SNV	missense	NA	Probably damaging	CCDC12	chr3:46964834	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I112F	SNV	missense	NA	Possibly damaging	CCDC12	chr3:46965108	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CSPG5	chr3:47604253	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L97fs	Indel	frameshift_variant	NA	-	ZNF589	chr3:48309468	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S141fs	Indel	frameshift_variant	NA	-	NME6	chr3:48336288	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N306fs	Indel	frameshift_variant	NA	-	ATRIP	chr3:48500841	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A223fs	Indel	frameshift_variant	NA	-	SHISA5	chr3:48510562	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E379Q	SNV	missense	NA	Probably damaging	PFKFB4	chr3:48561221	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D352N	SNV	missense	NA	Probably damaging	PFKFB4	chr3:48563036	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M304T	SNV	missense	NA	Possibly damaging	PFKFB4	chr3:48573021	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q169X	SNV	stop_gained	NA	-	NCKIPSD	chr3:48719571	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q240X	SNV	stop_gained	NA	-	IP6K2	chr3:48727033	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W100fs	Indel	frameshift_variant	NA	-	ARIH2	chr3:48999085	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R756W	SNV	missense	NA	Probably damaging	QRICH1	chr3:49067950	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R511X	SNV	stop_gained	NA	-	QRICH1	chr3:49083998	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S228X	SNV	stop_gained	NA	-	QRICH1	chr3:49094950	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q210del	Indel	inframe_deletion	NA	-	QRICH1	chr3:49095002	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E205X	SNV	stop_gained	NA	-	CCDC36	chr3:49292903	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L196del	Indel	inframe_deletion	NA	-	GPX1	chr3:49394844	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R265C	SNV	missense	NA	Probably damaging	AMT	chr3:49456488	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C660Y	SNV	missense	NA	Probably damaging	MST1	chr3:49721784	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K481X	SNV	stop_gained	NA	-	MST1	chr3:49722798	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K115X	SNV	stop_gained	NA	-	MST1	chr3:49724689	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P56S	SNV	missense	NA	Probably damaging	AMIGO3	chr3:49756733	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q441X	SNV	stop_gained	NA	-	IP6K1	chr3:49764560	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R282fs	Indel	frameshift_variant	NA	-	IP6K1	chr3:49765036	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R202X	SNV	stop_gained	NA	-	IP6K1	chr3:49770236	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R41H	SNV	missense	NA	Possibly damaging	IP6K1	chr3:49785352	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S28fs	Indel	frameshift_variant	NA	-	CDHR4	chr3:49836835	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D95H	SNV	missense	NA	-	FAM212A	chr3:49841839	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L237_A238insV	Indel	disruptive_inframe_insertion	NA	-	FAM212A	chr3:49842265	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	SEMA3B	chr3:50313275	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	LSMEM2	chr3:50324103	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E330del	Indel	inframe_deletion	NA	-	HYAL3	chr3:50330940	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D321fs	Indel	frameshift_variant	NA	-	HYAL3	chr3:50331085	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q77X	SNV	stop_gained	NA	-	HYAL3	chr3:50332805	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M360fs	Indel	frameshift_variant	NA	-	NPRL2	chr3:50385103	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G231C	SNV	missense	NA	-	NPRL2	chr3:50385987	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter58YextX?	SNV	stop_lost	NA	-	NPRL2	chr3:50386922	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K112del	Indel	inframe_deletion	NA	-	MANF	chr3:51425272	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R280H	SNV	missense	NA	Probably damaging	PCBP4	chr3:51992953	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	PCBP4	chr3:51993117	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P145fs	Indel	frameshift_variant	NA	Probably damaging	PCBP4	chr3:51994054	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T387I	SNV	missense	NA	-	POC1A	chr3:52109967	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	POC1A	chr3:52172319	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	TWF2	chr3:52269072	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C1244F	SNV	missense	NA	Probably damaging	PBRM1	chr3:52598210	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C1233S	SNV	missense	NA	Probably damaging	PBRM1	chr3:52598243	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R78Q	SNV	missense	NA	Probably damaging	PBRM1	chr3:52712519	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L131fs	Indel	frameshift_variant	NA	-	SPCS1	chr3:52741707	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C508S	SNV	missense	NA	Probably damaging	RFT1	chr3:53126022	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	RP11-894J14.5	chr3:53126383	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M147fs	Indel	frameshift_variant	NA	Probably damaging	RFT1	chr3:53156405	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G47S	SNV	missense	NA	Probably damaging	CHDH	chr3:53857897	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q8X	SNV	stop_gained	NA	-	SELK	chr3:53922508	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A161T	SNV	missense	NA	Probably damaging	HESX1	chr3:57232302	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T113I	SNV	missense	NA	Probably damaging	HESX1	chr3:57232800	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E81fs	Indel	frameshift_variant	NA	Probably damaging	HESX1	chr3:57232897	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	ASB14	chr3:57310757	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W189X	SNV	stop_gained	NA	-	DNAH12	chr3:57494244	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G73W	SNV	missense	NA	Probably damaging	FAM3D	chr3:58631282	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P71S	SNV	missense	NA	Probably damaging	FEZF2	chr3:62358333	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L146S	SNV	missense	NA	Probably damaging	THOC7	chr3:63821040	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F34C	SNV	missense	NA	Probably damaging	THOC7	chr3:63825368	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T238I	SNV	missense	NA	Probably damaging	SUCLG2	chr3:67559275	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G94S	SNV	missense	NA	Probably damaging	SUCLG2	chr3:67579557	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	MITF	chr3:69988334	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R438L	SNV	missense	NA	Probably damaging	FOXP1	chr3:71027020	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R363C	SNV	missense	NA	Probably damaging	FOXP1	chr3:71037210	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q58_Q59del	Indel	disruptive_inframe_deletion	NA	Probably damaging	FOXP1	chr3:71247356	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C115Y	SNV	missense	NA	Probably damaging	PROK2	chr3:71821921	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S223X	SNV	stop_gained	NA	-	EBLN2	chr3:73111900	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G309X	SNV	stop_gained	NA	-	VGLL3	chr3:87017752	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T291I	SNV	missense	NA	Probably damaging	VGLL3	chr3:87017805	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L299fs	Indel	frameshift_variant	NA	-	HTR1F	chr3:88040793	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G336R	SNV	missense	NA	Probably damaging	HTR1F	chr3:88040905	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H47del	Indel	inframe_deletion	NA	-	ZNF654	chr3:88188596	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R526fs	Indel	frameshift_variant	NA	-	ZNF654	chr3:88190035	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F92C	SNV	missense	NA	Probably damaging	PROS1	chr3:93629534	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E57V	SNV	missense	NA	Probably damaging	PROS1	chr3:93646158	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F92S	SNV	missense	NA	Probably damaging	ARL6	chr3:97503819	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	ARL6	chr3:97506833	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C239W	SNV	missense	NA	Probably damaging	OR5K3	chr3:98110226	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K270X	SNV	stop_gained	NA	-	CMSS1	chr3:99897200	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R249X	SNV	stop_gained	NA	-	SENP7	chr3:101090903	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G19X	SNV	stop_gained	NA	-	SENP7	chr3:101219949	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K792N	SNV	missense	NA	Probably damaging	ZBTB11	chr3:101371716	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M785T	SNV	missense	NA	Probably damaging	ZBTB11	chr3:101371738	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R764X	SNV	stop_gained	NA	-	ZBTB11	chr3:101373567	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C571Y	SNV	missense	NA	Probably damaging	ZBTB11	chr3:101383470	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	HHLA2	chr3:108070633	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q235X	SNV	stop_gained	NA	-	HHLA2	chr3:108076708	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter299WextX?	SNV	stop_lost	NA	-	DPPA2	chr3:109019241	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C224Y	SNV	missense	NA	Probably damaging	DPPA2	chr3:109023505	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G253D	SNV	missense	NA	Probably damaging	DPPA4	chr3:109047857	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y68C	SNV	missense	NA	Probably damaging	ABHD10	chr3:111700691	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q1517X	SNV	stop_gained	NA	-	KIAA2018	chr3:113375980	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	NAA50	chr3:113442320	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T133I	SNV	missense	NA	Probably damaging	GRAMD1C	chr3:113595046	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N301D	SNV	missense	NA	Probably damaging	GRAMD1C	chr3:113627916	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K392fs	Indel	frameshift_variant	NA	-	DRD3	chr3:113847589	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I124T	SNV	missense	NA	Probably damaging	DRD3	chr3:113878614	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A15fs	Indel	frameshift_variant	NA	-	TIMMDC1	chr3:119217623	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	CD80	chr3:119276575	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R341X	SNV	stop_gained	NA	-	GSK3B	chr3:119582380	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S95I	SNV	missense	NA	Probably damaging	GPR156	chr3:119912221	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S95R	SNV	missense	NA	Probably damaging	GPR156	chr3:119912222	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C42G	SNV	missense	NA	Probably damaging	FBXO40	chr3:121340400	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S315R	SNV	missense	NA	Probably damaging	ILDR1	chr3:121712651	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H167fs	Indel	frameshift_variant	NA	Probably damaging	ILDR1	chr3:121720591	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L163V	SNV	missense	NA	Probably damaging	ILDR1	chr3:121720604	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C45S	SNV	missense	NA	Probably damaging	ILDR1	chr3:121725933	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F38Y	SNV	missense	NA	Probably damaging	ILDR1	chr3:121725954	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D205H	SNV	missense	NA	Probably damaging	KPNA1	chr3:122170863	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PARP15	chr3:122334705	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	HSPBAP1	chr3:122487730	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T229A	SNV	missense	NA	Probably damaging	PDIA5	chr3:122842988	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L14dup	Indel	inframe_insertion	NA	-	ROPN1	chr3:123699285	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S672dup	Indel	disruptive_inframe_insertion	NA	-	HEG1	chr3:124732407	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T493fs	Indel	frameshift_variant	NA	-	ZXDC	chr3:126181027	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W215X	SNV	stop_gained	NA	-	TPRA1	chr3:127294313	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P53S	SNV	missense	NA	Probably damaging	TPRA1	chr3:127298684	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N332fs	Indel	frameshift_variant	NA	-	KIAA1257	chr3:128694645	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	KIAA1257	chr3:128707569	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E506X	SNV	stop_gained	NA	-	EFCC1	chr3:128755886	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P246L	SNV	missense	NA	-	ISY1-RAB43	chr3:128849406	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K200_I201del	Indel	inframe_deletion	NA	-	EFCAB12	chr3:129137174	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S143fs	Indel	frameshift_variant	NA	-	COL6A5	chr3:130095437	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A463S	SNV	missense	NA	Probably damaging	ATP2C1	chr3:130686240	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A516V	SNV	missense	NA	Probably damaging	ATP2C1	chr3:130694207	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	NUDT16	chr3:131101160	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S156fs	Indel	frameshift_variant	NA	-	NUDT16	chr3:131101214	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S317fs	Indel	frameshift_variant	NA	-	TMEM108	chr3:133099502	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P77fs	Indel	frameshift_variant	NA	-	C3orf36	chr3:133647417	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q460X	SNV	stop_gained	NA	-	KY	chr3:134323029	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K434fs	Indel	frameshift_variant	NA	-	KY	chr3:134323105	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G248A	SNV	missense	NA	Probably damaging	KY	chr3:134329193	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R362X	SNV	stop_gained	NA	-	MSL2	chr3:135870639	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	ARMC8	chr3:137940772	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R159fs	Indel	frameshift_variant	NA	-	ARMC8	chr3:137947798	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R78W	SNV	missense	NA	Probably damaging	MRAS	chr3:138116204	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H104del	Indel	inframe_deletion	NA	-	TRIM42	chr3:140397379	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C345Y	SNV	missense	NA	Probably damaging	ZBTB38	chr3:141162261	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q70fs	Indel	frameshift_variant	NA	-	RNF7	chr3:141462383	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K91E	SNV	missense	NA	Probably damaging	PFN2	chr3:149686199	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	EIF2A	chr3:150276250	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K298T	SNV	missense	NA	Possibly damaging	EIF2A	chr3:150289826	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V343fs	Indel	frameshift_variant	NA	Possibly damaging	EIF2A	chr3:150289957	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q98fs	Indel	frameshift_variant	NA	-	P2RY12	chr3:151056339	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D257V	SNV	missense	NA	Probably damaging	AADAC	chr3:151545530	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R355Q	SNV	missense	NA	Probably damaging	AADAC	chr3:151545824	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q90H	SNV	missense	NA	Probably damaging	MBNL1	chr3:152132825	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I361fs	Indel	frameshift_variant	NA	-	P2RY1	chr3:152554652	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E685del	Indel	inframe_deletion	NA	-	DHX36	chr3:154002752	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R357X	SNV	stop_gained	NA	-	DHX36	chr3:154022661	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G230fs	Indel	frameshift_variant	NA	-	DHX36	chr3:154027565	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S40F	SNV	missense	NA	Probably damaging	SSR3	chr3:156272760	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N105fs	Indel	frameshift_variant	NA	-	TIPARP	chr3:156395794	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K578del	Indel	inframe_deletion	NA	-	TIPARP	chr3:156422674	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M202fs	Indel	frameshift_variant	NA	-	PTX3	chr3:157160224	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L277_D278insQL	Indel	inframe_insertion	NA	-	SHOX2	chr3:157816052	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E45X	SNV	stop_gained	NA	-	SHOX2	chr3:157823681	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R239W	SNV	missense	NA	Probably damaging	IL12A	chr3:159713299	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D22H	SNV	missense	NA	Probably damaging	ARL14	chr3:160395198	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q154R	SNV	missense	NA	Probably damaging	ARL14	chr3:160395595	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L272fs	Indel	frameshift_variant	NA	-	PPM1L	chr3:160786675	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S70R	SNV	missense	NA	Probably damaging	SLITRK3	chr3:164908411	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G155A	SNV	missense	NA	-	ACTRT3	chr3:169485875	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K155fs	Indel	frameshift_variant	NA	-	MYNN	chr3:169496746	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D364V	SNV	missense	NA	Probably damaging	MYNN	chr3:169498408	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T466fs	Indel	frameshift_variant	NA	Probably damaging	MYNN	chr3:169500428	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C501X	SNV	stop_gained	NA	-	MYNN	chr3:169502429	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K380N	SNV	missense	NA	Probably damaging	SAMD7	chr3:169654225	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y225D	SNV	missense	NA	Probably damaging	SEC62	chr3:169706090	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R139H	SNV	missense	NA	Probably damaging	NCEH1	chr3:172365723	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V126G	SNV	missense	NA	Probably damaging	NCEH1	chr3:172365762	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y516H	SNV	missense	NA	Probably damaging	ECT2	chr3:172501610	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R639Q	SNV	missense	NA	Probably damaging	ECT2	chr3:172520673	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	TBL1XR1	chr3:176750908	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H300Y	SNV	missense	NA	Probably damaging	B3GNT5	chr3:182988484	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	HTR3D	chr3:183754334	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F46del	Indel	inframe_deletion	NA	-	DVL3	chr3:183873552	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G495S	SNV	missense	NA	Probably damaging	DVL3	chr3:183885838	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P523L	SNV	missense	NA	Possibly damaging	DVL3	chr3:183887863	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P671fs	Indel	frameshift_variant	NA	Possibly damaging	DVL3	chr3:183888399	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G158X	SNV	stop_gained	NA	-	THPO	chr3:184090891	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R87X	SNV	stop_gained	NA	-	IGF2BP2	chr3:185416116	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G289V	SNV	missense	NA	Probably damaging	TBCCD1	chr3:186272867	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q186fs	Indel	frameshift_variant	NA	-	FETUB	chr3:186362667	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E163X	SNV	stop_gained	NA	-	HRG	chr3:186389507	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I156del	Indel	inframe_deletion	NA	-	EIF4A2	chr3:186503784	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W212X	SNV	stop_gained	NA	-	ADIPOQ	chr3:186572393	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C607S	SNV	missense	NA	Probably damaging	BCL6	chr3:187443307	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R28X	SNV	stop_gained	NA	-	BCL6	chr3:187451400	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y125N	SNV	missense	NA	Probably damaging	TPRG1	chr3:188956592	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T250I	SNV	missense	NA	Probably damaging	TPRG1	chr3:189038530	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	HRASLS	chr3:192973439	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S489fs	Indel	frameshift_variant	NA	-	LRRC15	chr3:194080324	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q230X	SNV	stop_gained	NA	-	LRRC15	chr3:194081103	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G76D	SNV	missense	NA	Probably damaging	FAM43A	chr3:194407782	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T235fs	Indel	frameshift_variant	NA	-	SLC51A	chr3:195956854	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R328_S329insSP	Indel	disruptive_inframe_insertion	NA	-	PCYT1A	chr3:195965679	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_acceptor_variant	NA	-	PCYT1A	chr3:195966607	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L158fs	Indel	frameshift_variant	NA	-	PCYT1A	chr3:195974251	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T152M	SNV	missense	NA	Probably damaging	PCYT1A	chr3:195974269	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T125M	SNV	missense	NA	Probably damaging	PCYT1A	chr3:195974350	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D2fs	Indel	frameshift_variant	NA	Probably damaging	PCYT1A	chr3:195997390	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R372fs	Indel	frameshift_variant	NA	-	UBXN7	chr3:196089278	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R245H	SNV	missense	NA	Probably damaging	FBXO45	chr3:196311062	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L186P	SNV	missense	NA	-	NRROS	chr3:196387071	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P552S	SNV	missense	NA	-	NRROS	chr3:196388168	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R17G	SNV	missense	NA	Probably damaging	PAK2	chr3:196509566	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	PAK2	chr3:196539723	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V335del	Indel	disruptive_inframe_deletion	NA	Probably damaging	PAK2	chr3:196541385	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K307fs	Indel	frameshift_variant	NA	-	PIGG	chr4:509780	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CPLX1	chr4:786237	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E27K	SNV	missense	NA	Probably damaging	MAEA	chr4:1305776	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G232R	SNV	missense	NA	Probably damaging	WHSC1	chr4:1906039	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K531del	Indel	inframe_deletion	NA	-	NELFA	chr4:1985072	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E518fs	Indel	frameshift_variant	NA	-	NELFA	chr4:1985113	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E466K	SNV	missense	NA	-	NELFA	chr4:1985362	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T458M	SNV	missense	NA	-	NELFA	chr4:1985385	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G64R	SNV	missense	NA	Probably damaging	DOK7	chr4:3475222	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R451fs	Indel	frameshift_variant	NA	Probably damaging	DOK7	chr4:3495062	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R452fs	Indel	frameshift_variant	NA	Probably damaging	DOK7	chr4:3495066	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	C4orf6	chr4:5527942	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I121F	SNV	missense	NA	-	BLOC1S4	chr4:6718297	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A159T	SNV	missense	NA	-	BLOC1S4	chr4:6718411	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P165R	SNV	missense	NA	Probably damaging	GRPEL1	chr4:7062749	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ABLIM2	chr4:8009785	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R478X	SNV	stop_gained	NA	-	ABLIM2	chr4:8010821	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q473X	SNV	stop_gained	NA	-	ABLIM2	chr4:8021351	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A314T	SNV	missense	NA	Probably damaging	ABLIM2	chr4:8037983	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	ABLIM2	chr4:8090012	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	HTRA3	chr4:8284163	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W352X	SNV	stop_gained	NA	-	HTRA3	chr4:8304194	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C30X	SNV	stop_gained	NA	-	GPR78	chr4:8582799	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CLNK	chr4:10509661	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F297S	SNV	missense	NA	Probably damaging	HS3ST1	chr4:11400740	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E118X	SNV	stop_gained	NA	-	HS3ST1	chr4:11401278	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C840Y	SNV	missense	NA	Probably damaging	CPEB2	chr4:15060102	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L401P	SNV	missense	NA	Probably damaging	FBXL5	chr4:15627523	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E196fs	Indel	frameshift_variant	NA	-	FGFBP1	chr4:15937670	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W70R	SNV	missense	NA	Probably damaging	FGFBP1	chr4:15938048	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y70X	SNV	stop_gained	NA	-	FGFBP2	chr4:15964543	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	GBA3	chr4:22694639	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P143L	SNV	missense	NA	Probably damaging	ANAPC4	chr4:25390181	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K332N	SNV	missense	NA	Probably damaging	ANAPC4	chr4:25396462	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter383GextX?	SNV	stop_lost	NA	-	RBPJ	chr4:26432419	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S1132X	SNV	stop_gained	NA	-	PCDH7	chr4:31144098	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P556T	SNV	missense	NA	Probably damaging	TLR10	chr4:38775546	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L225fs	Indel	frameshift_variant	NA	-	TLR6	chr4:38830422	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V8M	SNV	missense	NA	Probably damaging	RHOH	chr4:40245028	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T28fs	Indel	frameshift_variant	NA	Probably damaging	RHOH	chr4:40245087	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S183X	SNV	stop_gained	NA	-	NSUN7	chr4:40776341	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L398F	SNV	missense	NA	Probably damaging	NSUN7	chr4:40796403	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	UCHL1	chr4:41258995	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	UCHL1	chr4:41259000	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y173C	SNV	missense	NA	Probably damaging	UCHL1	chr4:41265300	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R461del	Indel	disruptive_inframe_deletion	NA	-	KCTD8	chr4:44176844	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F229I	SNV	missense	NA	Probably damaging	KCTD8	chr4:44449856	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L381fs	Indel	frameshift_variant	NA	-	GUF1	chr4:44691363	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R416Q	SNV	missense	NA	Probably damaging	GUF1	chr4:44691904	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E336K	SNV	missense	NA	Probably damaging	GABRA4	chr4:46967115	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R137X	SNV	stop_gained	NA	-	COMMD8	chr4:47455198	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SLAIN2	chr4:48372016	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q317K	SNV	missense	NA	Probably damaging	SLAIN2	chr4:48384671	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R165W	SNV	missense	NA	Probably damaging	NMU	chr4:56465345	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L161fs	Indel	frameshift_variant	NA	Probably damaging	NMU	chr4:56466695	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q407X	SNV	stop_gained	NA	-	TMPRSS11A	chr4:68777107	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K255X	SNV	stop_gained	NA	-	TMPRSS11A	chr4:68784889	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F92S	SNV	missense	NA	Probably damaging	TMPRSS11A	chr4:68797765	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F332V	SNV	missense	NA	Probably damaging	TMPRSS11F	chr4:68930424	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K528del	Indel	disruptive_inframe_deletion	NA	-	UGT2B15	chr4:69512831	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W118fs	Indel	frameshift_variant	NA	-	UGT2B15	chr4:69535984	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K212X	SNV	stop_gained	NA	-	UGT2B11	chr4:70079807	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W117X	SNV	stop_gained	NA	-	UGT2B28	chr4:70146569	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W256X	SNV	stop_gained	NA	-	UGT2B28	chr4:70148278	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L27fs	Indel	frameshift_variant	NA	-	STATH	chr4:70865504	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	HTN3	chr4:70896509	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	IGJ	chr4:71527933	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D140G	SNV	missense	NA	Probably damaging	UTP3	chr4:71554813	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R447I	SNV	missense	NA	Probably damaging	UTP3	chr4:71555734	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C148F	SNV	missense	NA	Probably damaging	AFP	chr4:74306491	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F531L	SNV	missense	NA	Probably damaging	AFP	chr4:74318282	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S349X	SNV	stop_gained	NA	-	SOWAHB	chr4:77817957	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L174R	SNV	missense	NA	Probably damaging	SEPT11	chr4:77933040	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H277R	SNV	missense	NA	Probably damaging	SEPT11	chr4:77941670	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L226R	SNV	missense	NA	Possibly damaging	CCNI	chr4:77976316	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W27R	SNV	missense	NA	Probably damaging	CCNI	chr4:77987437	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L12F	SNV	missense	NA	Probably damaging	CCNI	chr4:77987480	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q178X	SNV	stop_gained	NA	-	NAA11	chr4:80246500	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SLC10A6	chr4:87754458	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N72fs	Indel	frameshift_variant	NA	-	MEPE	chr4:88766135	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P285fs	Indel	frameshift_variant	NA	-	MEPE	chr4:88766779	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P148fs	Indel	frameshift_variant	NA	-	SPP1	chr4:88902851	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D68Y	SNV	missense	NA	Probably damaging	PPM1K	chr4:89199534	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W67X	SNV	stop_gained	NA	-	PPM1K	chr4:89199535	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ADH1B	chr4:100237053	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	ADH1C	chr4:100261869	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K211N	SNV	missense	NA	Probably damaging	C4orf17	chr4:100460324	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K15N	SNV	missense	NA	Probably damaging	INTS12	chr4:106621118	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	AIMP1	chr4:107268685	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R186C	SNV	missense	NA	Probably damaging	CYP2U1	chr4:108866191	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R488W	SNV	missense	NA	Probably damaging	CYP2U1	chr4:108871406	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F128V	SNV	missense	NA	Probably damaging	PLA2G12A	chr4:110638773	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P73T	SNV	missense	NA	Probably damaging	PLA2G12A	chr4:110639907	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G48A	SNV	missense	NA	Probably damaging	GAR1	chr4:110737463	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y326H	SNV	missense	NA	Probably damaging	LRIT3	chr4:110790881	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D649fs	Indel	frameshift_variant	NA	Probably damaging	LRIT3	chr4:110791845	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F111fs	Indel	frameshift_variant	NA	-	ELOVL6	chr4:110980799	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R80Q	SNV	missense	NA	Probably damaging	ELOVL6	chr4:110980893	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K56fs	Indel	frameshift_variant	NA	Probably damaging	ELOVL6	chr4:111026706	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K80T	SNV	missense	NA	Probably damaging	C4orf32	chr4:113107934	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SLC25A31	chr4:128690033	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N255S	SNV	missense	NA	Probably damaging	ELF2	chr4:139983061	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	ELF2	chr4:140058783	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L282S	SNV	missense	NA	Probably damaging	ELMOD2	chr4:141471492	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P2S	SNV	missense	NA	Probably damaging	ZNF330	chr4:142143529	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S185L	SNV	missense	NA	Probably damaging	ZNF330	chr4:142152623	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter63WextX?	SNV	stop_lost	NA	-	GYPB	chr4:144918698	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L68fs	Indel	frameshift_variant	NA	-	GYPB	chr4:144918759	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter203CextX?	SNV	stop_lost	NA	-	C4orf51	chr4:146653712	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L265fs	Indel	frameshift_variant	NA	-	ZNF827	chr4:146823616	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y984X	SNV	stop_gained	NA	-	NR3C2	chr4:149002510	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P705fs	Indel	frameshift_variant	NA	-	NR3C2	chr4:149075965	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P702_P703insTADMQVGTP	Indel	inframe_insertion	NA	-	NR3C2	chr4:149075972	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V427fs	Indel	frameshift_variant	NA	-	SH3D19	chr4:152065400	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W153X	SNV	stop_gained	NA	-	PRSS48	chr4:152203542	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y252X	SNV	stop_gained	NA	-	TIGD4	chr4:153691401	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K26N	SNV	missense	NA	Probably damaging	TIGD4	chr4:153692079	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L196P	SNV	missense	NA	Probably damaging	ARFIP1	chr4:153802290	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q221E	SNV	missense	NA	Probably damaging	ARFIP1	chr4:153803902	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L245S	SNV	missense	NA	Probably damaging	ARFIP1	chr4:153803975	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A103T	SNV	missense	NA	Probably damaging	TRIM2	chr4:154197136	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	TRIM2	chr4:154197284	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V519fs	Indel	frameshift_variant	NA	Probably damaging	TRIM2	chr4:154236676	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T666P	SNV	missense	NA	Probably damaging	TRIM2	chr4:154245274	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	TRIM2	chr4:154249681	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H66Q	SNV	missense	NA	Probably damaging	SFRP2	chr4:154709790	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I420T	SNV	missense	NA	Probably damaging	FGG	chr4:155526113	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	TDO2	chr4:156831336	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q253X	SNV	stop_gained	NA	-	TDO2	chr4:156835505	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PDGFC	chr4:157732104	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q133X	SNV	stop_gained	NA	-	FAM218A	chr4:165878571	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G232R	SNV	missense	NA	Probably damaging	ANXA10	chr4:169100433	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L390fs	Indel	frameshift_variant	NA	-	CLCN3	chr4:170618489	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A535V	SNV	missense	NA	Probably damaging	CLCN3	chr4:170625189	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E850fs	Indel	frameshift_variant	NA	Probably damaging	CLCN3	chr4:170641159	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q333fs	Indel	frameshift_variant	NA	-	MFAP3L	chr4:170912761	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C106Y	SNV	missense	NA	Probably damaging	HMGB2	chr4:174254126	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A101T	SNV	missense	NA	Probably damaging	HMGB2	chr4:174254142	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A29_A30del	Indel	inframe_deletion	NA	-	SAP30	chr4:174292411	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I19fs	Indel	frameshift_variant	NA	-	GPM6A	chr4:176622901	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V55fs	Indel	frameshift_variant	NA	-	CLDN24	chr4:184243415	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D169G	SNV	missense	NA	Probably damaging	CASP3	chr4:185552289	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K156R	SNV	missense	NA	Probably damaging	CASP3	chr4:185552935	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V81A	SNV	missense	NA	Probably damaging	HELT	chr4:185940623	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G32E	SNV	missense	NA	Probably damaging	TRIML1	chr4:189060807	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C56F	SNV	missense	NA	Probably damaging	TRIML1	chr4:189060879	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E439X	SNV	stop_gained	NA	-	TRIML1	chr4:189068434	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y218X	SNV	stop_gained	NA	-	CCDC127	chr5:205541	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R192H	SNV	missense	NA	Probably damaging	TPPP	chr5:665302	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D238fs	Indel	frameshift_variant	NA	-	TRIP13	chr5:908140	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V248fs	Indel	frameshift_variant	NA	-	IRX4	chr5:1878901	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P210dup	Indel	inframe_insertion	NA	-	IRX4	chr5:1879722	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R145L	SNV	missense	NA	Probably damaging	IRX4	chr5:1879920	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A114V	SNV	missense	NA	-	PAPD7	chr5:6742685	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G416R	SNV	missense	NA	Probably damaging	FASTKD3	chr5:7866951	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K290fs	Indel	frameshift_variant	NA	-	TAS2R1	chr5:9629275	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G161V	SNV	missense	NA	Probably damaging	FAM173B	chr5:10235336	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q11L	SNV	missense	NA	Probably damaging	ROPN1L	chr5:10442311	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q11H	SNV	missense	NA	Probably damaging	ROPN1L	chr5:10442312	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L228P	SNV	missense	NA	Probably damaging	FAM105B	chr5:14690236	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P269S	SNV	missense	NA	Probably damaging	FAM105B	chr5:14690358	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y287C	SNV	missense	NA	Probably damaging	MARCH11	chr5:16091024	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R717fs	Indel	frameshift_variant	NA	-	ZFR	chr5:32388774	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R2152Q	SNV	missense	NA	Probably damaging	NIPBL	chr5:37045656	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I2453T	SNV	missense	NA	Probably damaging	NIPBL	chr5:37057382	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D242H	SNV	missense	NA	Probably damaging	WDR70	chr5:37479973	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R94W	SNV	missense	NA	Probably damaging	GDNF	chr5:37816160	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P1078fs	Indel	frameshift_variant	NA	-	LIFR	chr5:38481758	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R812X	SNV	stop_gained	NA	-	LIFR	chr5:38485984	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W13fs	Indel	frameshift_variant	NA	-	LIFR	chr5:38530710	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter263RextX?	SNV	stop_lost	NA	-	TTC33	chr5:40716249	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M512fs	Indel	frameshift_variant	NA	-	HCN1	chr5:45303784	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y407X	SNV	stop_gained	NA	-	HCN1	chr5:45396603	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W281X	SNV	stop_gained	NA	-	HCN1	chr5:45645293	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PARP8	chr5:50074393	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C250Y	SNV	missense	NA	Probably damaging	FST	chr5:52780854	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C77S	SNV	missense	NA	Probably damaging	ESM1	chr5:54281116	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C57X	SNV	stop_gained	NA	-	ESM1	chr5:54281175	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K113X	SNV	stop_gained	NA	-	CDC20B	chr5:54442474	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L161fs	Indel	frameshift_variant	NA	-	CCNO	chr5:54528273	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T644I	SNV	missense	NA	Probably damaging	PLK2	chr5:57750537	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I634del	Indel	inframe_deletion	NA	Probably damaging	PLK2	chr5:57750565	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y71C	SNV	missense	NA	Probably damaging	ELOVL7	chr5:60067773	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W60X	SNV	stop_gained	NA	-	RNF180	chr5:63507936	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L178X	SNV	stop_gained	NA	-	RNF180	chr5:63509686	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R11fs	Indel	frameshift_variant	NA	-	RGS7BP	chr5:63802475	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	SREK1IP1	chr5:64064343	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G70V	SNV	missense	NA	-	CWC27	chr5:64077817	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S375fs	Indel	frameshift_variant	NA	-	CWC27	chr5:64267606	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G658S	SNV	missense	NA	Probably damaging	ADAMTS6	chr5:64522008	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L444F	SNV	missense	NA	Probably damaging	TNPO1	chr5:72183933	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K55N	SNV	missense	NA	Probably damaging	FCHO2	chr5:72285293	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G259V	SNV	missense	NA	Probably damaging	FCHO2	chr5:72313115	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E786Q	SNV	missense	NA	Possibly damaging	FCHO2	chr5:72383526	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V298M	SNV	missense	NA	Probably damaging	UTP15	chr5:72872781	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y220C	SNV	missense	NA	Probably damaging	ENC1	chr5:73931652	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E141G	SNV	missense	NA	Probably damaging	ENC1	chr5:73931889	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R344Q	SNV	missense	NA	Probably damaging	GCNT4	chr5:74324832	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L143Q	SNV	missense	NA	Probably damaging	OTP	chr5:76932665	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R876X	SNV	stop_gained	NA	-	AP3B1	chr5:77335050	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H16del	Indel	disruptive_inframe_deletion	NA	-	PAPD4	chr5:78915514	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PAPD4	chr5:78915908	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R412C	SNV	missense	NA	Probably damaging	PAPD4	chr5:78975427	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	DHFR	chr5:79945292	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A57_A62dup	Indel	inframe_insertion	NA	-	MSH3	chr5:79950708	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	MSH3	chr5:79966129	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E474fs	Indel	frameshift_variant	NA	-	MSH3	chr5:80021349	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A505G	SNV	missense	NA	Probably damaging	MSH3	chr5:80024730	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P783H	SNV	missense	NA	Probably damaging	MSH3	chr5:80074568	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K210X	SNV	stop_gained	NA	-	ATG10	chr5:81549209	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F337I	SNV	missense	NA	Probably damaging	HAPLN1	chr5:82937371	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A310V	SNV	missense	NA	Probably damaging	HAPLN1	chr5:82937451	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W296L	SNV	missense	NA	Probably damaging	HAPLN1	chr5:82937493	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V160A	SNV	missense	NA	Probably damaging	HAPLN1	chr5:82940478	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K293del	Indel	disruptive_inframe_deletion	NA	-	CCNH	chr5:86690913	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y86S	SNV	missense	NA	Probably damaging	CCNH	chr5:86705164	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I81F	SNV	missense	NA	Probably damaging	CETN3	chr5:89701529	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G169S	SNV	missense	NA	Probably damaging	MBLAC2	chr5:89757319	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L126X	SNV	stop_gained	NA	-	POU5F2	chr5:93076893	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V173fs	Indel	frameshift_variant	NA	-	KIAA0825	chr5:93856401	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K58fs	Indel	frameshift_variant	NA	-	KIAA0825	chr5:93859757	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	EFNA5	chr5:106763143	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N55S	SNV	missense	NA	Possibly damaging	EFNA5	chr5:106763172	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P526T	SNV	missense	NA	Probably damaging	PJA2	chr5:108698617	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q297X	SNV	stop_gained	NA	-	PJA2	chr5:108714299	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P47S	SNV	missense	NA	Probably damaging	PJA2	chr5:108717297	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	SRP19	chr5:112200217	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G138fs	Indel	frameshift_variant	NA	-	SRP19	chr5:112203204	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q288X	SNV	stop_gained	NA	-	DCP2	chr5:112339694	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G524fs	Indel	frameshift_variant	NA	-	CCDC112	chr5:114603589	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P509fs	Indel	frameshift_variant	NA	-	CCDC112	chr5:114604601	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R141X	SNV	stop_gained	NA	-	CDO1	chr5:115142198	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q129X	SNV	stop_gained	NA	-	CDO1	chr5:115146876	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G100V	SNV	missense	NA	Probably damaging	CDO1	chr5:115146962	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H92P	SNV	missense	NA	Probably damaging	CDO1	chr5:115146986	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T59S	SNV	missense	NA	Probably damaging	CDO1	chr5:115148950	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	ATG12	chr5:115173423	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F103S	SNV	missense	NA	Probably damaging	TNFAIP8	chr5:118728751	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V170A	SNV	missense	NA	Probably damaging	TNFAIP8	chr5:118728952	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H214Y	SNV	missense	NA	Probably damaging	PRR16	chr5:120022129	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q209fs	Indel	frameshift_variant	NA	-	LOX	chr5:121413055	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	ZNF474	chr5:121487686	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T174I	SNV	missense	NA	Probably damaging	ZNF474	chr5:121488206	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	CSNK1G3	chr5:122888806	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	CSNK1G3	chr5:122888842	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	CSNK1G3	chr5:122893246	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S246C	SNV	missense	NA	Probably damaging	CSNK1G3	chr5:122923824	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K360del	Indel	disruptive_inframe_deletion	NA	Probably damaging	CSNK1G3	chr5:122927099	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W370X	SNV	stop_gained	NA	-	CSNK1G3	chr5:122930756	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A200T	SNV	missense	NA	Probably damaging	GRAMD3	chr5:125813450	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T189I	SNV	missense	NA	Probably damaging	MARCH3	chr5:126213914	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E76Q	SNV	missense	NA	Probably damaging	MARCH3	chr5:126250789	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M248fs	Indel	frameshift_variant	NA	-	PRRC1	chr5:126866072	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q62X	SNV	stop_gained	NA	-	HINT1	chr5:130498297	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S910fs	Indel	frameshift_variant	NA	-	FNIP1	chr5:131007407	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	FNIP1	chr5:131008619	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R309C	SNV	missense	NA	Probably damaging	PDLIM4	chr5:131607854	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	C5orf56	chr5:131755634	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V108G	SNV	missense	NA	Probably damaging	IRF1	chr5:131822687	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V690G	SNV	missense	NA	Probably damaging	SHROOM1	chr5:132159099	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E359fs	Indel	frameshift_variant	NA	Probably damaging	SHROOM1	chr5:132160470	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K28N	SNV	missense	NA	Probably damaging	VDAC1	chr5:133328030	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D75E	SNV	missense	NA	Probably damaging	SAR1B	chr5:133948400	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L427_L428dup	Indel	disruptive_inframe_insertion	NA	-	DDX46	chr5:134120167	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N187fs	Indel	frameshift_variant	NA	-	C5orf24	chr5:134191149	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y148dup	Indel	disruptive_inframe_insertion	NA	-	TXNDC15	chr5:134223719	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y60X	SNV	stop_gained	NA	-	CXCL14	chr5:134914150	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V460fs	Indel	frameshift_variant	NA	-	SIL1	chr5:138282835	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SRA1	chr5:139931771	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D255H	SNV	missense	NA	Probably damaging	CD14	chr5:140011806	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter102CextX?	SNV	stop_lost	NA	-	TMCO6	chr5:140021344	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E416X	SNV	stop_gained	NA	-	TMCO6	chr5:140024185	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F71fs	Indel	frameshift_variant	NA	-	NDUFA2	chr5:140025262	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S680del	Indel	disruptive_inframe_deletion	NA	-	PCDHA4	chr5:140188804	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G629fs	Indel	frameshift_variant	NA	-	PCDHA6	chr5:140209559	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y810X	SNV	stop_gained	NA	-	PCDHA8	chr5:140223336	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S547fs	Indel	frameshift_variant	NA	-	PCDHA9	chr5:140229713	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V134fs	Indel	frameshift_variant	NA	-	PCDHA10	chr5:140236032	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S509X	SNV	stop_gained	NA	-	PCDHA13	chr5:140263379	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H67fs	Indel	frameshift_variant	NA	-	PCDHB5	chr5:140515214	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G63fs	Indel	frameshift_variant	NA	-	PCDHB15	chr5:140625330	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R236fs	Indel	frameshift_variant	NA	-	SLC25A2	chr5:140682727	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D225N	SNV	missense	NA	Probably damaging	TAF7	chr5:140698939	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T84fs	Indel	frameshift_variant	NA	Probably damaging	TAF7	chr5:140699361	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y522X	SNV	stop_gained	NA	-	PCDHGA2	chr5:140720104	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q640X	SNV	stop_gained	NA	-	PCDHGA2	chr5:140720456	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E789X	SNV	stop_gained	NA	-	PCDHGA6	chr5:140756015	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q454X	SNV	stop_gained	NA	-	PCDHGB6	chr5:140789129	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q685X	SNV	stop_gained	NA	-	PCDHGB6	chr5:140789822	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V236fs	Indel	frameshift_variant	NA	-	PCDHGA10	chr5:140793444	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A700fs	Indel	frameshift_variant	NA	-	PCDHGA10	chr5:140794840	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q6X	SNV	stop_gained	NA	-	PCDHGA11	chr5:140800810	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D480fs	Indel	frameshift_variant	NA	-	PCDHGA12	chr5:140811759	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E78X	SNV	stop_gained	NA	-	PCDHGC3	chr5:140855915	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T353fs	Indel	frameshift_variant	NA	-	PCDHGC3	chr5:140856738	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K444_H445delinsN	Indel	disruptive_inframe_deletion	NA	-	RNF14	chr5:141364461	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H445Q	SNV	missense	NA	Probably damaging	RNF14	chr5:141364466	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V267E	SNV	missense	NA	Probably damaging	SPRY4	chr5:141693943	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K36fs	Indel	frameshift_variant	NA	-	SPINK7	chr5:147693680	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C53fs	Indel	frameshift_variant	NA	-	SPINK9	chr5:147718047	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R60X	SNV	stop_gained	NA	-	GRPEL2	chr5:148727935	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ARHGEF37	chr5:148989260	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R171M	SNV	missense	NA	-	ARHGEF37	chr5:148996183	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y395X	SNV	stop_gained	NA	-	ARHGEF37	chr5:149001475	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I377fs	Indel	frameshift_variant	NA	-	TIGD6	chr5:149374783	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R407X	SNV	stop_gained	NA	-	CAMK2A	chr5:149607773	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K215X	SNV	stop_gained	NA	-	TCOF1	chr5:149751572	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A905G	SNV	missense	NA	Probably damaging	SYNPO	chr5:150029819	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q39X	SNV	stop_gained	NA	-	SLC36A1	chr5:150838468	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L419P	SNV	missense	NA	Probably damaging	SLC36A1	chr5:150867640	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F85C	SNV	missense	NA	Probably damaging	NMUR2	chr5:151784421	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S293I	SNV	missense	NA	Probably damaging	MFAP3	chr5:153433062	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	GALNT10	chr5:153709256	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y276X	SNV	stop_gained	NA	-	GALNT10	chr5:153760081	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	GALNT10	chr5:153795487	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K167M	SNV	missense	NA	Probably damaging	HAND1	chr5:153857069	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S112C	SNV	missense	NA	Probably damaging	HAND1	chr5:153857235	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M117T	SNV	missense	NA	Probably damaging	MRPL22	chr5:154336705	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y191X	SNV	stop_gained	NA	-	MRPL22	chr5:154346331	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P203fs	Indel	frameshift_variant	NA	-	MRPL22	chr5:154346361	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q221fs	Indel	frameshift_variant	NA	-	MRPL22	chr5:154346418	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R176X	SNV	stop_gained	NA	-	THG1L	chr5:157161741	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L220W	SNV	missense	NA	Probably damaging	THG1L	chr5:157164926	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	THG1L	chr5:157165003	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R269W	SNV	missense	NA	Probably damaging	THG1L	chr5:157166398	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T289fs	Indel	frameshift_variant	NA	-	CCNJL	chr5:159682578	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T316M	SNV	missense	NA	Probably damaging	C1QTNF2	chr5:159776221	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N302K	SNV	missense	NA	Probably damaging	C1QTNF2	chr5:159776262	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G106A	SNV	missense	NA	Probably damaging	C1QTNF2	chr5:159781837	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E345X	SNV	stop_gained	NA	-	C5orf54	chr5:159821465	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P61S	SNV	missense	NA	Probably damaging	SLU7	chr5:159841469	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I59T	SNV	missense	NA	Probably damaging	SLU7	chr5:159841474	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M199V	SNV	missense	NA	Probably damaging	GABRG2	chr5:161528287	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y211X	SNV	stop_gained	NA	-	GABRG2	chr5:161530896	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R227X	SNV	stop_gained	NA	-	FBXW11	chr5:171318581	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H257Q	SNV	missense	NA	Probably damaging	DUSP1	chr5:172196098	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	ATP6V0E1	chr5:172410865	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P447T	SNV	missense	NA	Probably damaging	PDLIM7	chr5:176910680	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R165C	SNV	missense	NA	Probably damaging	PDLIM7	chr5:176918053	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	NHP2	chr5:177580563	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	ZNF354B	chr5:178293244	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R458X	SNV	stop_gained	NA	-	ZNF354B	chr5:178310825	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T229fs	Indel	frameshift_variant	NA	-	ZNF454	chr5:178392089	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H262R	SNV	missense	NA	Probably damaging	ZNF454	chr5:178392190	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L592del	Indel	disruptive_inframe_deletion	NA	-	GRM6	chr5:178413479	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D1274fs	Indel	frameshift_variant	NA	-	FLT4	chr5:180036041	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	FLT4	chr5:180058681	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W150X	SNV	stop_gained	NA	-	OR2V1	chr5:180551855	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E46del	Indel	inframe_deletion	NA	-	IRF4	chr6:393284	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E46K	SNV	missense	NA	Probably damaging	IRF4	chr6:393288	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	LY86	chr6:6626534	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P487L	SNV	missense	NA	Probably damaging	RREB1	chr6:7229792	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C792W	SNV	missense	NA	Probably damaging	RREB1	chr6:7230708	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F1604L	SNV	missense	NA	Probably damaging	RREB1	chr6:7248784	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L568X	SNV	stop_gained	NA	-	CAGE1	chr6:7373349	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	BLOC1S5-TXNDC5	chr6:8026599	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TFAP2A	chr6:10415173	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	TMEM14B	chr6:10756698	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	RP11-637O19.3	chr6:10906289	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y161X	SNV	stop_gained	NA	-	ERVFRD-1	chr6:11105061	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G211E	SNV	missense	NA	-	ADTRP	chr6:11723608	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S221fs	Indel	frameshift_variant	NA	-	RNF182	chr6:13978009	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	JARID2	chr6:15468798	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E802K	SNV	missense	NA	Probably damaging	JARID2	chr6:15501596	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M833I	SNV	missense	NA	Probably damaging	JARID2	chr6:15504781	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y1184X	SNV	stop_gained	NA	-	JARID2	chr6:15517493	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S171F	SNV	missense	NA	Probably damaging	GMPR	chr6:16274692	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y125X	SNV	stop_gained	NA	-	FAM8A1	chr6:17601015	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I378S	SNV	missense	NA	Probably damaging	FAM8A1	chr6:17608461	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V407L	SNV	missense	NA	Probably damaging	FAM8A1	chr6:17608547	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y21X	SNV	stop_gained	NA	-	NRSN1	chr6:24134618	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E118G	SNV	missense	NA	Probably damaging	GMNN	chr6:24784393	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	FAM65B	chr6:24850029	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C218F	SNV	missense	NA	Probably damaging	FAM65B	chr6:24852822	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R216L	SNV	missense	NA	Probably damaging	FAM65B	chr6:24852828	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R173W	SNV	missense	NA	Probably damaging	FAM65B	chr6:24865576	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	HIST1H2BB	chr6:26043883	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q126X	SNV	stop_gained	NA	-	HIST1H3C	chr6:26046014	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P39fs	Indel	frameshift_variant	NA	-	HIST1H1E	chr6:26156726	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K140del	Indel	inframe_deletion	NA	-	HIST1H1E	chr6:26157032	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K200fs	Indel	frameshift_variant	NA	-	HIST1H1E	chr6:26157214	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P201fs	Indel	frameshift_variant	NA	-	HIST1H1E	chr6:26157215	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E114fs	Indel	frameshift_variant	NA	-	HIST1H2BE	chr6:26184361	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C97X	SNV	stop_gained	NA	-	HIST1H3D	chr6:26197188	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y84X	SNV	stop_gained	NA	-	HIST1H2BH	chr6:26252130	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A145fs	Indel	frameshift_variant	NA	-	BTN3A3	chr6:26444530	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K10X	SNV	stop_gained	NA	-	HIST1H2AH	chr6:27114935	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W85X	SNV	stop_gained	NA	-	PRSS16	chr6:27216896	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter93CextX?	SNV	stop_lost	NA	-	PRSS16	chr6:27216920	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y186F	SNV	missense	NA	Probably damaging	PRSS16	chr6:27218551	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	PRSS16	chr6:27222653	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q492X	SNV	stop_gained	NA	-	PRSS16	chr6:27222908	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q509X	SNV	stop_gained	NA	-	PRSS16	chr6:27223074	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C97X	SNV	stop_gained	NA	-	HIST1H3H	chr6:27778142	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R3X	SNV	stop_gained	NA	-	HIST1H3I	chr6:27840087	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E106fs	Indel	frameshift_variant	NA	-	HIST1H2BO	chr6:27861557	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R20X	SNV	stop_gained	NA	-	OR2B6	chr6:27925076	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D203fs	Indel	frameshift_variant	NA	-	ZSCAN31	chr6:28294556	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	GPX6	chr6:28473478	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P157S	SNV	missense	NA	Probably damaging	GPX5	chr6:28501747	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	GPX5	chr6:28501840	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S232X	SNV	stop_gained	NA	-	ZNF311	chr6:28964084	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R122fs	Indel	frameshift_variant	NA	-	OR2B3	chr6:29054661	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E6X	SNV	stop_gained	NA	-	OR2B3	chr6:29055010	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q98X	SNV	stop_gained	NA	-	OR12D3	chr6:29342773	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y58X	SNV	stop_gained	NA	-	OR12D3	chr6:29342891	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D288fs	Indel	frameshift_variant	NA	-	MAS1L	chr6:29454816	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C131Y	SNV	missense	NA	Probably damaging	GABBR1	chr6:29598318	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V428fs	Indel	frameshift_variant	NA	-	ZFP57	chr6:29640604	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S390fs	Indel	frameshift_variant	NA	-	ZFP57	chr6:29640715	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q99X	SNV	stop_gained	NA	-	TRIM31	chr6:30080288	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TRIM40	chr6:30105159	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L289fs	Indel	frameshift_variant	NA	-	TRIM39	chr6:30308110	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S256C	SNV	missense	NA	Probably damaging	GNL1	chr6:30521168	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	MUC21	chr6:30951737	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S405fs	Indel	frameshift_variant	NA	-	CDSN	chr6:31084178	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q22X	SNV	stop_gained	NA	-	PSORS1C1	chr6:31106453	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T29fs	Indel	frameshift_variant	NA	-	PSORS1C1	chr6:31106471	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L120fs	Indel	frameshift_variant	NA	-	C6orf25	chr6:31691707	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A131fs	Indel	frameshift_variant	NA	-	C6orf25	chr6:31691743	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y54X	SNV	stop_gained	NA	-	C6orf48	chr6:31807374	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q362X	SNV	stop_gained	NA	-	NEU1	chr6:31827660	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	NEU1	chr6:31830553	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E1073G	SNV	missense	NA	Probably damaging	EHMT2	chr6:31850734	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q1046H	SNV	missense	NA	Probably damaging	EHMT2	chr6:31851166	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q188X	SNV	stop_gained	NA	-	STK19	chr6:31940529	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	C4B	chr6:31997116	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H86fs	Indel	frameshift_variant	NA	-	PRRT1	chr6:32118446	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y42H	SNV	missense	NA	Probably damaging	PPT2	chr6:32122477	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y248C	SNV	missense	NA	Probably damaging	PPT2	chr6:32130359	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M77fs	Indel	frameshift_variant	NA	-	EGFL8	chr6:32134482	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R219X	SNV	stop_gained	NA	-	EGFL8	chr6:32135180	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H248fs	Indel	frameshift_variant	NA	-	AGER	chr6:32150658	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P152fs	Indel	frameshift_variant	NA	-	PBX2	chr6:32156121	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E373del	Indel	disruptive_inframe_deletion	NA	-	BTNL2	chr6:32362759	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R75X	SNV	stop_gained	NA	-	HLA-DRA	chr6:32410365	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D175N	SNV	missense	NA	Probably damaging	B3GALT4	chr6:33245719	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P285S	SNV	missense	NA	Probably damaging	WDR46	chr6:33255158	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S184G	SNV	missense	NA	Probably damaging	WDR46	chr6:33255936	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R148H	SNV	missense	NA	Probably damaging	WDR46	chr6:33256165	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y82C	SNV	missense	NA	Probably damaging	PFDN6	chr6:33258212	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V294E	SNV	missense	NA	Probably damaging	TAPBP	chr6:33272403	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P187del	Indel	inframe_deletion	NA	Probably damaging	TAPBP	chr6:33273072	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y472X	SNV	stop_gained	NA	-	ZBTB9	chr6:33424293	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R400W	SNV	missense	NA	Probably damaging	LEMD2	chr6:33744975	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter173LextX?	SNV	stop_lost	NA	-	NUDT3	chr6:34256531	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R96del	Indel	disruptive_inframe_deletion	NA	-	RPS10-NUDT3	chr6:34392480	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R241Q	SNV	missense	NA	Probably damaging	PACSIN1	chr6:34497552	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q14X	SNV	stop_gained	NA	-	C6orf106	chr6:34664341	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R177X	SNV	stop_gained	NA	-	SNRPC	chr6:34741333	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R126C	SNV	missense	NA	Probably damaging	TAF11	chr6:34848098	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T49S	SNV	missense	NA	Probably damaging	SCUBE3	chr6:35195417	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C583Y	SNV	missense	NA	Probably damaging	SCUBE3	chr6:35210804	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P853L	SNV	missense	NA	Probably damaging	SCUBE3	chr6:35213113	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D405N	SNV	missense	NA	Probably damaging	PPARD	chr6:35393743	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	TULP1	chr6:35471353	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E50fs	Indel	frameshift_variant	NA	-	TULP1	chr6:35479998	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L23fs	Indel	frameshift_variant	NA	-	TULP1	chr6:35480447	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y246X	SNV	stop_gained	NA	-	PNPLA1	chr6:36263161	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G162E	SNV	missense	NA	Probably damaging	KCTD20	chr6:36446948	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S395F	SNV	missense	NA	Probably damaging	CPNE5	chr6:36714189	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F379L	SNV	missense	NA	Probably damaging	CPNE5	chr6:36714238	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A51T	SNV	missense	NA	Probably damaging	PI16	chr6:36922687	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E87fs	Indel	frameshift_variant	NA	Probably damaging	PI16	chr6:36927006	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C356fs	Indel	frameshift_variant	NA	-	MTCH1	chr6:36937747	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P133T	SNV	missense	NA	Probably damaging	GLO1	chr6:38649857	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	GLO1	chr6:38654751	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W686X	SNV	stop_gained	NA	-	KIF6	chr6:39328196	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	KIF6	chr6:39607385	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W20X	SNV	stop_gained	NA	-	TSPO2	chr6:41010783	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W153X	SNV	stop_gained	NA	-	TSPO2	chr6:41011822	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D183fs	Indel	frameshift_variant	NA	-	APOBEC2	chr6:41029480	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	OARD1	chr6:41036635	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A339del	Indel	inframe_deletion	NA	-	NFYA	chr6:41065118	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D86G	SNV	missense	NA	Probably damaging	TREM2	chr6:41129135	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K268_A269del	Indel	inframe_deletion	NA	-	CCND3	chr6:41903749	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	CCND3	chr6:41908278	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S162F	SNV	missense	NA	Probably damaging	GUCA1B	chr6:42152671	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E191fs	Indel	frameshift_variant	NA	-	PRPH2	chr6:42689501	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K11X	SNV	stop_gained	NA	-	PRPH2	chr6:42690042	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F199L	SNV	missense	NA	Probably damaging	RPL7L1	chr6:42854058	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R28fs	Indel	frameshift_variant	NA	-	MEA1	chr6:42981072	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G186fs	Indel	frameshift_variant	NA	-	DLK2	chr6:43418871	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K142X	SNV	stop_gained	NA	-	MAD2L1BP	chr6:43607773	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S485F	SNV	missense	NA	Probably damaging	SLC29A1	chr6:44200701	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K481fs	Indel	frameshift_variant	NA	-	HSP90AB1	chr6:44219597	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D96fs	Indel	frameshift_variant	NA	-	SPATS1	chr6:44320608	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	GSTA5	chr6:52701033	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D153N	SNV	missense	NA	Probably damaging	ELOVL5	chr6:53140008	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K60fs	Indel	frameshift_variant	NA	Probably damaging	ELOVL5	chr6:53159170	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E151K	SNV	missense	NA	-	MLIP	chr6:53989469	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q808X	SNV	stop_gained	NA	-	MLIP	chr6:54025380	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	HCRTR2	chr6:55145120	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y70X	SNV	stop_gained	NA	-	PRIM2	chr6:57185310	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W419C	SNV	missense	NA	Probably damaging	SMAP1	chr6:71567920	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K131X	SNV	stop_gained	NA	-	OGFRL1	chr6:72003305	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R444del	Indel	inframe_deletion	NA	-	SYNCRIP	chr6:86325013	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	ORC3	chr6:88304070	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E437Q	SNV	missense	NA	-	ORC3	chr6:88346131	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G157R	SNV	missense	NA	Probably damaging	CNR1	chr6:88854525	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K447fs	Indel	frameshift_variant	NA	-	GABRR2	chr6:89967521	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D350N	SNV	missense	NA	Probably damaging	GABRR2	chr6:89974244	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L129V	SNV	missense	NA	Probably damaging	GABRR2	chr6:89978932	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RRAGD	chr6:90082306	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P277S	SNV	missense	NA	Probably damaging	RRAGD	chr6:90087463	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E175X	SNV	stop_gained	NA	-	RRAGD	chr6:90090008	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R159C	SNV	missense	NA	Probably damaging	FUT9	chr6:96651506	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L257P	SNV	missense	NA	Probably damaging	FUT9	chr6:96651801	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D291N	SNV	missense	NA	Probably damaging	FUT9	chr6:96651902	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y36X	SNV	stop_gained	NA	-	PRDM13	chr6:100055018	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R140X	SNV	stop_gained	NA	-	MCHR2	chr6:100390994	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S168X	SNV	stop_gained	NA	-	BVES	chr6:105573302	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T449I	SNV	missense	NA	Probably damaging	QRSL1	chr6:107111040	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P131H	SNV	missense	NA	Probably damaging	C6orf203	chr6:107361341	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	C6orf203	chr6:107361435	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P104H	SNV	missense	NA	Probably damaging	SMPD2	chr6:109763263	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L269fs	Indel	frameshift_variant	NA	Probably damaging	SMPD2	chr6:109764539	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	WASF1	chr6:110426784	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q272fs	Indel	frameshift_variant	NA	-	FYN	chr6:112021352	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	FYN	chr6:112025201	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R123H	SNV	missense	NA	Probably damaging	FYN	chr6:112029200	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G117V	SNV	missense	NA	Probably damaging	FYN	chr6:112029218	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K226X	SNV	stop_gained	NA	-	WISP3	chr6:112389440	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K327T	SNV	missense	NA	Probably damaging	WISP3	chr6:112390684	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C355S	SNV	missense	NA	Probably damaging	WISP3	chr6:112390768	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D482G	SNV	missense	NA	Probably damaging	HDAC2	chr6:114265503	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D94N	SNV	missense	NA	Probably damaging	VGLL2	chr6:117589543	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D173fs	Indel	frameshift_variant	NA	-	SERINC1	chr6:122774989	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SERINC1	chr6:122779664	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L32del	Indel	inframe_deletion	NA	-	TRDN	chr6:123892203	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W382X	SNV	stop_gained	NA	-	RNF217	chr6:125379117	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N234fs	Indel	frameshift_variant	NA	-	KIAA0408	chr6:127768766	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A572dup	Indel	inframe_insertion	NA	-	L3MBTL3	chr6:130415489	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N392fs	Indel	frameshift_variant	NA	-	SAMD3	chr6:130467246	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L500fs	Indel	frameshift_variant	NA	-	CTAGE9	chr6:132030658	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H262Y	SNV	missense	NA	Probably damaging	PDE7B	chr6:136495007	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R340S	SNV	missense	NA	Probably damaging	PDE7B	chr6:136502436	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S181N	SNV	missense	NA	Probably damaging	HEBP2	chr6:138734139	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E179A	SNV	missense	NA	Probably damaging	CCDC28A	chr6:139101066	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E136X	SNV	stop_gained	NA	-	HECA	chr6:139487555	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E42G	SNV	missense	NA	Probably damaging	PEX3	chr6:143780273	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y164C	SNV	missense	NA	Probably damaging	PEX3	chr6:143792554	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L676fs	Indel	frameshift_variant	NA	-	TAB2	chr6:149730794	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R316H	SNV	missense	NA	Probably damaging	KATNA1	chr6:149919428	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V273F	SNV	missense	NA	Probably damaging	KATNA1	chr6:149922801	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G249S	SNV	missense	NA	Probably damaging	KATNA1	chr6:149922873	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y1129fs	Indel	frameshift_variant	NA	-	LATS1	chr6:149982870	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F641fs	Indel	frameshift_variant	NA	-	LATS1	chr6:150004298	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K622del	Indel	disruptive_inframe_deletion	NA	-	LATS1	chr6:150004359	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L109fs	Indel	frameshift_variant	NA	-	NUP43	chr6:150063701	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T283I	SNV	missense	NA	Probably damaging	LRP11	chr6:150164184	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S126fs	Indel	frameshift_variant	NA	-	RAET1L	chr6:150342295	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P193L	SNV	missense	NA	Probably damaging	FBXO5	chr6:153296282	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S182G	SNV	missense	NA	Probably damaging	ZDHHC14	chr6:158014157	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F259C	SNV	missense	NA	Probably damaging	ZDHHC14	chr6:158066792	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G172fs	Indel	frameshift_variant	NA	-	WTAP	chr6:160174550	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A198V	SNV	missense	NA	Possibly damaging	QKI	chr6:163983060	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D744del	Indel	disruptive_inframe_deletion	NA	-	THBS2	chr6:169629694	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A230V	SNV	missense	NA	Probably damaging	HEATR2	chr7:769393	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R350G	SNV	missense	NA	Probably damaging	HEATR2	chr7:794249	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R376X	SNV	stop_gained	NA	-	HEATR2	chr7:794327	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K775X	SNV	stop_gained	NA	-	HEATR2	chr7:819673	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S142del	Indel	inframe_deletion	NA	-	C7orf50	chr7:1037419	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E57X	SNV	stop_gained	NA	-	C7orf50	chr7:1049740	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E790fs	Indel	frameshift_variant	NA	-	ELFN1	chr7:1786600	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S275L	SNV	missense	NA	-	AP5Z1	chr7:4824572	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q307H	SNV	missense	NA	-	AP5Z1	chr7:4824669	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D317fs	Indel	frameshift_variant	NA	-	AP5Z1	chr7:4825058	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L500fs	Indel	frameshift_variant	NA	-	AP5Z1	chr7:4827823	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter614fs	Indel	frameshift_variant	NA	-	AP5Z1	chr7:4829878	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	AP5Z1	chr7:4830745	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q2696X	SNV	stop_gained	NA	-	TNRC18	chr7:5352436	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	FSCN1	chr7:5643028	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	FSCN1	chr7:5644992	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A489T	SNV	missense	NA	Probably damaging	ICA1	chr7:8153627	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L218fs	Indel	frameshift_variant	NA	Probably damaging	ICA1	chr7:8198210	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A148S	SNV	missense	NA	Probably damaging	ICA1	chr7:8258072	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K111N	SNV	missense	NA	Probably damaging	NXPH1	chr7:8790916	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I167fs	Indel	frameshift_variant	NA	-	SOSTDC1	chr7:16502367	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P118S	SNV	missense	NA	Probably damaging	SOSTDC1	chr7:16502514	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L26P	SNV	missense	NA	Probably damaging	TSPAN13	chr7:16815849	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R44X	SNV	stop_gained	NA	-	TSPAN13	chr7:16815902	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R96X	SNV	stop_gained	NA	-	CCDC126	chr7:23682597	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K668del	Indel	inframe_deletion	NA	-	STK31	chr7:23821072	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H846R	SNV	missense	NA	Probably damaging	STK31	chr7:23827648	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S9fs	Indel	frameshift_variant	NA	-	SKAP2	chr7:26904024	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R110P	SNV	missense	NA	Probably damaging	WIPF3	chr7:29918730	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L79P	SNV	missense	NA	Probably damaging	FKBP14	chr7:30062394	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W473C	SNV	missense	NA	-	PLEKHA8	chr7:30113727	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V478F	SNV	missense	NA	-	PLEKHA8	chr7:30113740	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PLEKHA8	chr7:30113750	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	MTURN	chr7:30174915	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E118del	Indel	inframe_deletion	NA	-	MTURN	chr7:30197116	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D61G	SNV	missense	NA	Probably damaging	INMT	chr7:30793374	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H129L	SNV	missense	NA	-	AQP1	chr7:30951730	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D315H	SNV	missense	NA	Probably damaging	KBTBD2	chr7:32909886	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L17del	Indel	disruptive_inframe_deletion	NA	Probably damaging	KBTBD2	chr7:32919166	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L36fs	Indel	frameshift_variant	NA	-	FKBP9	chr7:32997291	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q149X	SNV	stop_gained	NA	-	FKBP9	chr7:33014293	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RP9	chr7:33140175	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R188del	Indel	disruptive_inframe_deletion	NA	-	NPSR1	chr7:34867094	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K271N	SNV	missense	NA	Probably damaging	NPSR1	chr7:34884563	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T394fs	Indel	frameshift_variant	NA	-	HERPUD2	chr7:35673341	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S59L	SNV	missense	NA	Probably damaging	HERPUD2	chr7:35712860	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	AOAH	chr7:36662795	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	AOAH	chr7:36698769	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y334C	SNV	missense	NA	Probably damaging	GLI3	chr7:42079664	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P282S	SNV	missense	NA	Probably damaging	GLI3	chr7:42079821	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E219fs	Indel	frameshift_variant	NA	-	STK17A	chr7:43659287	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D130fs	Indel	frameshift_variant	NA	-	UBE2D4	chr7:43990280	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E87D	SNV	missense	NA	benign	DBNL	chr7:44092474	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P266L	SNV	missense	NA	Probably damaging	DBNL	chr7:44098517	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R386H	SNV	missense	NA	Probably damaging	DBNL	chr7:44099729	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G416C	SNV	missense	NA	Probably damaging	DBNL	chr7:44100441	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	CAMK2B	chr7:44298514	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F386L	SNV	missense	NA	Probably damaging	CCM2	chr7:45115416	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R895Q	SNV	missense	NA	Probably damaging	ADCY1	chr7:45743311	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D905E	SNV	missense	NA	Probably damaging	ADCY1	chr7:45743342	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C270Y	SNV	missense	NA	Probably damaging	IGFBP3	chr7:45954504	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R220G	SNV	missense	NA	Probably damaging	IGFBP3	chr7:45956257	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R45X	SNV	stop_gained	NA	-	C7orf65	chr7:47698353	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W108X	SNV	stop_gained	NA	-	C7orf65	chr7:47698694	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y50X	SNV	stop_gained	NA	-	C7orf69	chr7:47857665	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P304L	SNV	missense	NA	Probably damaging	ZPBP	chr7:50022988	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T66del	Indel	disruptive_inframe_deletion	NA	Probably damaging	ZPBP	chr7:50129233	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E513fs	Indel	frameshift_variant	NA	-	IKZF1	chr7:50468298	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F29C	SNV	missense	NA	Probably damaging	VSTM2A	chr7:54612321	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G41W	SNV	missense	NA	Probably damaging	VSTM2A	chr7:54612356	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	VSTM2A	chr7:54614638	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	VSTM2A	chr7:54617526	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S196Y	SNV	missense	NA	Probably damaging	VSTM2A	chr7:54617816	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y37fs	Indel	frameshift_variant	NA	-	VOPP1	chr7:55588766	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E272X	SNV	stop_gained	NA	-	ZNF679	chr7:63726825	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E349fs	Indel	frameshift_variant	NA	-	TYW1B	chr7:72209498	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_acceptor_variant	NA	-	TYW1B	chr7:72209579	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W133X	SNV	stop_gained	NA	-	FZD9	chr7:72848736	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A23V	SNV	missense	NA	Probably damaging	WBSCR22	chr7:73098116	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R42X	SNV	stop_gained	NA	-	WBSCR22	chr7:73101003	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	WBSCR22	chr7:73105343	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G182C	SNV	missense	NA	Probably damaging	WBSCR22	chr7:73107692	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q5X	SNV	stop_gained	NA	-	ABHD11	chr7:73153115	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C24G	SNV	missense	NA	Probably damaging	CLDN3	chr7:73184310	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P425L	SNV	missense	NA	Probably damaging	GTF2IRD1	chr7:73944151	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P429L	SNV	missense	NA	Probably damaging	GTF2IRD1	chr7:73944163	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R598W	SNV	missense	NA	Possibly damaging	GTF2IRD1	chr7:73960103	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R645H	SNV	missense	NA	Probably damaging	GTF2IRD1	chr7:73961538	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	GTF2IRD1	chr7:73969825	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D556fs	Indel	frameshift_variant	NA	-	GTF2IRD2B	chr7:74563919	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	AC018720.10	chr7:75130875	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C137fs	Indel	frameshift_variant	NA	-	HSPB1	chr7:75933160	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SRCRB4D	chr7:76028036	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q158fs	Indel	frameshift_variant	NA	-	POMZP3	chr7:76240874	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E217X	SNV	stop_gained	NA	-	PHTF2	chr7:77539599	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PHTF2	chr7:77584173	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	GNAI1	chr7:79818542	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K367X	SNV	stop_gained	NA	-	DBF4	chr7:87536552	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	SRI	chr7:87838690	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter510LextX?	SNV	stop_lost	NA	-	CYP51A1	chr7:91742980	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	CYP51A1	chr7:91747832	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P154L	SNV	missense	NA	Probably damaging	CYP51A1	chr7:91758201	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S72F	SNV	missense	NA	Probably damaging	CYP51A1	chr7:91761164	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M308fs	Indel	frameshift_variant	NA	-	RBM48	chr7:92164187	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M361fs	Indel	frameshift_variant	NA	-	CALCR	chr7:93065437	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T89fs	Indel	frameshift_variant	NA	-	BET1	chr7:93623675	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	BET1	chr7:93623698	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G68D	SNV	missense	NA	Probably damaging	BET1	chr7:93625617	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H20L	SNV	missense	NA	Probably damaging	ACN9	chr7:96747094	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L7fs	Indel	frameshift_variant	NA	-	ARPC1A	chr7:98930991	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F169S	SNV	missense	NA	Probably damaging	ARPC1B	chr7:98988521	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	GS1-259H13.10	chr7:99158183	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R123X	SNV	stop_gained	NA	-	ZSCAN25	chr7:99217596	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C408Y	SNV	missense	NA	-	ZSCAN25	chr7:99227231	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K515E	SNV	missense	NA	Probably damaging	ZKSCAN1	chr7:99631671	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R120W	SNV	missense	NA	Probably damaging	TAF6	chr7:99711547	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R44fs	Indel	frameshift_variant	NA	Probably damaging	TAF6	chr7:99711873	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G93fs	Indel	frameshift_variant	NA	-	LAMTOR4	chr7:99751563	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N255fs	Indel	frameshift_variant	NA	-	PILRA	chr7:99997206	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	EPHB4	chr7:100410452	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y471C	SNV	missense	NA	Probably damaging	EPHB4	chr7:100416152	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F111C	SNV	missense	NA	Probably damaging	EPHB4	chr7:100421345	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	RP11-395B7.2	chr7:100607770	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L192H	SNV	missense	NA	Probably damaging	SERPINE1	chr7:100775225	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	SERPINE1	chr7:100775323	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q227X	SNV	stop_gained	NA	-	SERPINE1	chr7:100775329	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S89I	SNV	missense	NA	Probably damaging	AP1S1	chr7:100800014	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	MYL10	chr7:101256941	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P155Q	SNV	missense	NA	Probably damaging	MYL10	chr7:101259569	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R303C	SNV	missense	NA	Probably damaging	SH2B2	chr7:101950052	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T269N	SNV	missense	NA	Probably damaging	ALKBH4	chr7:102097944	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M193T	SNV	missense	NA	Probably damaging	ALKBH4	chr7:102098172	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L180fs	Indel	frameshift_variant	NA	Probably damaging	ALKBH4	chr7:102098211	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	Probably damaging	ALKBH4	chr7:102105158	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W388X	SNV	stop_gained	NA	-	NAPEPLD	chr7:102755618	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	DPY19L2P2	chr7:102898050	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A169T	SNV	missense	NA	Probably damaging	PRKAR2B	chr7:106781316	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S345W	SNV	missense	NA	Probably damaging	PRKAR2B	chr7:106797680	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R20X	SNV	stop_gained	NA	-	GPR22	chr7:107114563	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R150X	SNV	stop_gained	NA	-	GPR22	chr7:107114953	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y49C	SNV	missense	NA	Probably damaging	DUS4L	chr7:107211619	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L347fs	Indel	frameshift_variant	NA	-	THAP5	chr7:108204782	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y223H	SNV	missense	NA	Probably damaging	IFRD1	chr7:112102104	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N426S	SNV	missense	NA	Probably damaging	IFRD1	chr7:112115495	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S265F	SNV	missense	NA	Probably damaging	MDFIC	chr7:114619810	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M321fs	Indel	frameshift_variant	NA	-	WNT2	chr7:116918331	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N86K	SNV	missense	NA	Probably damaging	WNT2	chr7:116960673	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	NAA38	chr7:117825706	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G178E	SNV	missense	NA	Probably damaging	ANKRD7	chr7:117876099	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	FAM3C	chr7:121012194	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G275A	SNV	missense	NA	Probably damaging	GPR37	chr7:124404207	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E294X	SNV	stop_gained	NA	-	LRRC4	chr7:127669814	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L178F	SNV	missense	NA	Probably damaging	LRRC4	chr7:127670160	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N133S	SNV	missense	NA	Probably damaging	LRRC4	chr7:127670296	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P47L	SNV	missense	NA	Probably damaging	LRRC4	chr7:127670554	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter64GextX?	SNV	stop_lost	NA	-	HILPDA	chr7:128097512	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G285fs	Indel	frameshift_variant	NA	-	METTL2B	chr7:128138131	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K219fs	Indel	frameshift_variant	NA	-	FAM71F1	chr7:128359101	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G103R	SNV	missense	NA	Probably damaging	OPN1SW	chr7:128415538	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H526fs	Indel	frameshift_variant	NA	-	TMEM209	chr7:129810295	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R413K	SNV	missense	NA	Probably damaging	TMEM209	chr7:129818250	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	SSMEM1	chr7:129847751	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S152F	SNV	missense	NA	Probably damaging	CPA2	chr7:129912986	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D203Y	SNV	missense	NA	Probably damaging	CPA2	chr7:129916489	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R181W	SNV	missense	NA	Probably damaging	CPA1	chr7:130023289	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R234P	SNV	missense	NA	Probably damaging	CPA1	chr7:130024381	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N254S	SNV	missense	NA	Probably damaging	CPA1	chr7:130024441	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S170fs	Indel	frameshift_variant	NA	-	TSGA13	chr7:130357595	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R186del	Indel	inframe_deletion	NA	-	KLF14	chr7:130418302	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K86N	SNV	missense	NA	Probably damaging	MKLN1	chr7:131071968	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E176X	SNV	stop_gained	NA	-	TMEM140	chr7:134849719	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G121fs	Indel	frameshift_variant	NA	-	C7orf49	chr7:134851476	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S847X	SNV	stop_gained	NA	-	ZC3HAV1	chr7:138739964	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W275X	SNV	stop_gained	NA	-	KLRG2	chr7:139138387	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y316fs	Indel	frameshift_variant	NA	-	SLC37A3	chr7:140048507	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L25fs	Indel	frameshift_variant	NA	-	SLC37A3	chr7:140082249	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W440X	SNV	stop_gained	NA	-	WEE2	chr7:141424924	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H210Y	SNV	missense	NA	Probably damaging	TAS2R3	chr7:141464586	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G209fs	Indel	frameshift_variant	NA	-	OR9A4	chr7:141619299	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y169X	SNV	stop_gained	NA	-	PRSS58	chr7:141952361	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	TRBV24-1	chr7:142364235	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	TRBV28	chr7:142428506	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V85M	SNV	missense	NA	Probably damaging	PRSS1	chr7:142459635	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D121G	SNV	missense	NA	Probably damaging	PRSS1	chr7:142459744	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R646C	SNV	missense	NA	Probably damaging	TRPV6	chr7:142569702	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A457V	SNV	missense	NA	Probably damaging	TRPV6	chr7:142572326	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W45fs	Indel	frameshift_variant	NA	Probably damaging	TRPV6	chr7:142575774	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R305fs	Indel	frameshift_variant	NA	-	OR6V1	chr7:142750349	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PIP	chr7:142836283	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W1547X	SNV	stop_gained	NA	-	ARHGEF5	chr7:144076995	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G146fs	Indel	frameshift_variant	NA	-	ATP6V0E2	chr7:149576559	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T134fs	Indel	frameshift_variant	NA	-	ZBED6CL	chr7:150027892	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	REPIN1	chr7:150068319	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F104fs	Indel	frameshift_variant	NA	-	GIMAP4	chr7:150269423	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A125del	Indel	disruptive_inframe_deletion	NA	-	GBX1	chr7:150864261	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G443C	SNV	missense	NA	Probably damaging	SHH	chr7:155595656	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G221R	SNV	missense	NA	Probably damaging	SHH	chr7:155596322	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K17M	SNV	missense	NA	Probably damaging	FBXO25	chr8:363129	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q636X	SNV	stop_gained	NA	-	XKR6	chr8:10755482	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R441Q	SNV	missense	NA	Probably damaging	XKR6	chr8:10756066	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D348H	SNV	missense	NA	Probably damaging	XKR6	chr8:10756346	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A138T	SNV	missense	NA	Probably damaging	FAM167A	chr8:11282115	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D157A	SNV	missense	NA	Probably damaging	NEIL2	chr8:11637438	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P163T	SNV	missense	NA	Probably damaging	NEIL2	chr8:11637455	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	NEIL2	chr8:11643470	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q891X	SNV	stop_gained	NA	-	MTUS1	chr8:17542004	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	NAT1	chr8:18079752	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V155dup	Indel	inframe_insertion	NA	-	NAT1	chr8:18079831	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	NAT1	chr8:18079950	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R213P	SNV	missense	NA	Probably damaging	NAT1	chr8:18080008	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K748fs	Indel	frameshift_variant	NA	-	PSD3	chr8:18490295	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P58S	SNV	missense	NA	Probably damaging	LPL	chr8:19805774	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R204Q	SNV	missense	NA	Probably damaging	DOK2	chr8:21768191	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	FGF17	chr8:21900473	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	DMTN	chr8:21926525	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L171fs	Indel	frameshift_variant	NA	-	REEP4	chr8:21996479	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SORBS3	chr8:22429230	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A172fs	Indel	frameshift_variant	NA	-	AC037459.4	chr8:22458654	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q224X	SNV	stop_gained	NA	-	AC037459.4	chr8:22458817	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I296fs	Indel	frameshift_variant	NA	-	C8orf58	chr8:22460056	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S145X	SNV	stop_gained	NA	-	C8orf58	chr8:22460088	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W49C	SNV	missense	NA	Probably damaging	CHMP7	chr8:23104355	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P29fs	Indel	frameshift_variant	NA	-	BNIP3L	chr8:26240724	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W95C	SNV	missense	NA	Probably damaging	CCDC25	chr8:27606075	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E116X	SNV	stop_gained	NA	-	PBK	chr8:27679955	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G29X	SNV	stop_gained	NA	-	ZNF395	chr8:28206335	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G312fs	Indel	frameshift_variant	NA	-	HMBOX1	chr8:28902956	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R429X	SNV	stop_gained	NA	-	HMBOX1	chr8:28908625	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	DCTN6	chr8:30032618	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R150C	SNV	missense	NA	Probably damaging	DCTN6	chr8:30038120	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E311X	SNV	stop_gained	NA	-	PURG	chr8:30854147	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I87T	SNV	missense	NA	Probably damaging	PURG	chr8:30890039	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y68C	SNV	missense	NA	Probably damaging	ZNF703	chr8:37553700	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R304L	SNV	missense	NA	Probably damaging	BRF2	chr8:37702357	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q95fs	Indel	frameshift_variant	NA	-	EIF4EBP1	chr8:37914736	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T524M	SNV	missense	NA	Probably damaging	TACC1	chr8:38684768	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	IDO1	chr8:39775392	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L118fs	Indel	frameshift_variant	NA	-	IDO1	chr8:39776381	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D138Y	SNV	missense	NA	Probably damaging	IDO1	chr8:39776442	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	IDO1	chr8:39782812	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G96S	SNV	missense	NA	Probably damaging	ZMAT4	chr8:40554827	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C90F	SNV	missense	NA	Probably damaging	RNF170	chr8:42725200	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	RNF170	chr8:42742990	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	POTEA	chr8:43197472	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E25del	Indel	disruptive_inframe_deletion	NA	-	UBE2V2	chr8:48955633	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ST18	chr8:53030897	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ST18	chr8:53055489	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y383H	SNV	missense	NA	Probably damaging	ST18	chr8:53079469	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E1387fs	Indel	frameshift_variant	NA	-	RB1CC1	chr8:53555089	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C572fs	Indel	frameshift_variant	NA	-	RB1CC1	chr8:53571508	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W311X	SNV	stop_gained	NA	-	RB1CC1	chr8:53586475	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S307C	SNV	missense	NA	Probably damaging	RB1CC1	chr8:53586487	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V59L	SNV	missense	NA	Probably damaging	RB1CC1	chr8:53596470	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F71S	SNV	missense	NA	Probably damaging	MOS	chr8:57026330	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R138C	SNV	missense	NA	Probably damaging	PLAG1	chr8:57079893	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L263X	SNV	stop_gained	NA	-	UBXN2B	chr8:59358582	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E29K	SNV	missense	NA	Probably damaging	SDCBP	chr8:59477614	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S31C	SNV	missense	NA	-	CLVS1	chr8:62212477	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	CLVS1	chr8:62370963	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G132D	SNV	missense	NA	Probably damaging	GGH	chr8:63938821	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L241P	SNV	missense	NA	Probably damaging	TTPA	chr8:63973926	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P89R	SNV	missense	NA	Probably damaging	TTPA	chr8:63985586	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A433T	SNV	missense	NA	Probably damaging	KCNB2	chr8:73848887	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S785fs	Indel	frameshift_variant	NA	Probably damaging	KCNB2	chr8:73849942	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R338Q	SNV	missense	NA	Probably damaging	STAU2	chr8:74515977	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A69G	SNV	missense	NA	Probably damaging	STAU2	chr8:74600957	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A66V	SNV	missense	NA	Probably damaging	STAU2	chr8:74600966	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K25fs	Indel	frameshift_variant	NA	-	GDAP1	chr8:75262766	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L109X	SNV	stop_gained	NA	-	GDAP1	chr8:75272387	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I186fs	Indel	frameshift_variant	NA	-	GDAP1	chr8:75274190	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y173H	SNV	missense	NA	Probably damaging	PI15	chr8:75757487	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R78H	SNV	missense	NA	Probably damaging	HNF4G	chr8:76456190	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L2482fs	Indel	frameshift_variant	NA	-	ZFHX4	chr8:77766599	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S2804X	SNV	stop_gained	NA	-	ZFHX4	chr8:77767568	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R3610X	SNV	stop_gained	NA	-	ZFHX4	chr8:77776778	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L41fs	Indel	frameshift_variant	NA	-	IL7	chr8:79710333	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q135X	SNV	stop_gained	NA	-	MRPS28	chr8:80831376	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	MRPS28	chr8:80942269	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y129fs	Indel	frameshift_variant	NA	-	FABP12	chr8:82437317	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G222E	SNV	missense	NA	Probably damaging	ZFAND1	chr8:82615072	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	C8orf59	chr8:86129727	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L180fs	Indel	frameshift_variant	NA	-	ATP6V0D2	chr8:87153736	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ATP6V0D2	chr8:87153759	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I267fs	Indel	frameshift_variant	NA	-	CPNE3	chr8:87558886	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S450C	SNV	missense	NA	Probably damaging	CPNE3	chr8:87568424	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D500E	SNV	missense	NA	Probably damaging	PDP1	chr8:94935712	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S484fs	Indel	frameshift_variant	NA	-	CDH17	chr8:95172300	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P320A	SNV	missense	NA	Probably damaging	MTERFD1	chr8:97256248	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q99X	SNV	stop_gained	NA	-	MTERFD1	chr8:97270624	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E175X	SNV	stop_gained	NA	-	TSPYL5	chr8:98289550	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	MTDH	chr8:98699686	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	NIPAL2	chr8:99206954	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P118L	SNV	missense	NA	Probably damaging	NIPAL2	chr8:99264714	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G93S	SNV	missense	NA	Probably damaging	NIPAL2	chr8:99264790	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	POLR2K	chr8:101163585	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S153X	SNV	stop_gained	NA	-	YWHAZ	chr8:101936511	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	YWHAZ	chr8:101961114	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	AZIN1	chr8:103846891	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y66H	SNV	missense	NA	Probably damaging	AZIN1	chr8:103851958	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T714del	Indel	inframe_deletion	NA	-	RIMS2	chr8:104987610	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K207dup	Indel	inframe_insertion	NA	-	RSPO2	chr8:108913412	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C541fs	Indel	frameshift_variant	NA	-	TRPS1	chr8:116616571	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter582WextX?	SNV	stop_lost	NA	-	KLHL38	chr8:124657979	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E194K	SNV	missense	NA	Probably damaging	KLHL38	chr8:124664587	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V206fs	Indel	frameshift_variant	NA	-	FER1L6	chr8:124987479	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ZNF572	chr8:125987962	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T371M	SNV	missense	NA	Probably damaging	LRRC6	chr8:133622440	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R173H	SNV	missense	NA	Probably damaging	SLA	chr8:134057315	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G288S	SNV	missense	NA	Probably damaging	ST3GAL1	chr8:134472168	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C142R	SNV	missense	NA	Probably damaging	ST3GAL1	chr8:134478216	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D76N	SNV	missense	NA	Probably damaging	CHRAC1	chr8:141524546	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C49Y	SNV	missense	NA	Probably damaging	PTP4A3	chr8:142435188	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y124X	SNV	stop_gained	NA	-	LY6K	chr8:143783112	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M138fs	Indel	frameshift_variant	NA	-	LY6K	chr8:143784521	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G106del	Indel	disruptive_inframe_deletion	NA	-	LY6E	chr8:144103122	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L499P	SNV	missense	NA	Probably damaging	RHPN1	chr8:144463749	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K550X	SNV	stop_gained	NA	-	RHPN1	chr8:144463989	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	EEF1D	chr8:144671160	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W127X	SNV	stop_gained	NA	-	NRBP2	chr8:144917732	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	NRBP2	chr8:144918201	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	GPAA1	chr8:145139623	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G372R	SNV	missense	NA	Probably damaging	GPAA1	chr8:145139728	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V549fs	Indel	frameshift_variant	NA	Probably damaging	GPAA1	chr8:145140806	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L238fs	Indel	frameshift_variant	NA	-	FAM203A	chr8:145193628	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L291fs	Indel	frameshift_variant	NA	-	SCRT1	chr8:145557021	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	VPS28	chr8:145649653	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W141X	SNV	stop_gained	NA	-	CYHR1	chr8:145689667	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	CYHR1	chr8:145690191	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	FOXH1	chr8:145700440	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R82H	SNV	missense	NA	Probably damaging	FOXH1	chr8:145700574	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S397F	SNV	missense	NA	Probably damaging	MFSD3	chr8:145736498	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q35fs	Indel	frameshift_variant	NA	-	ZNF251	chr8:145979636	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y210C	SNV	missense	NA	Probably damaging	DMRT1	chr9:894002	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S473X	SNV	stop_gained	NA	-	DMRT2	chr9:1057005	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R21X	SNV	stop_gained	NA	-	INSL4	chr9:5231584	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A108fs	Indel	frameshift_variant	NA	-	RLN2	chr9:5300334	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A26V	SNV	missense	NA	Probably damaging	NFIB	chr9:14307473	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T25M	SNV	missense	NA	Probably damaging	PLIN2	chr9:19126264	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	MLLT3	chr9:20456761	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y146C	SNV	missense	NA	Probably damaging	IFNA21	chr9:21166175	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q182fs	Indel	frameshift_variant	NA	-	IFNA17	chr9:21227628	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y113X	SNV	stop_gained	NA	-	IFNA17	chr9:21227834	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L152fs	Indel	frameshift_variant	NA	-	IFNA14	chr9:21239481	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L38fs	Indel	frameshift_variant	NA	-	IFNA5	chr9:21305142	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C16X	SNV	stop_gained	NA	-	IFNA5	chr9:21305208	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E164K	SNV	missense	NA	Probably damaging	IFNA2	chr9:21384839	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A138V	SNV	missense	NA	Probably damaging	DMRTA1	chr9:22447477	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E180X	SNV	stop_gained	NA	-	DMRTA1	chr9:22447602	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P338Q	SNV	missense	NA	Probably damaging	DMRTA1	chr9:22451408	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E380fs	Indel	frameshift_variant	NA	Probably damaging	DMRTA1	chr9:22451531	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q40X	SNV	stop_gained	NA	-	EQTN	chr9:27296695	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H128Y	SNV	missense	NA	Probably damaging	NDUFB6	chr9:32553879	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T36fs	Indel	frameshift_variant	NA	-	TMEM215	chr9:32784276	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q96R	SNV	missense	NA	Probably damaging	DCAF12	chr9:34125067	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E60X	SNV	stop_gained	NA	-	DCAF12	chr9:34125176	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C14X	SNV	stop_gained	NA	-	NUDT2	chr9:34339079	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D93fs	Indel	frameshift_variant	NA	-	CNTFR	chr9:34564639	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E62del	Indel	disruptive_inframe_deletion	NA	-	DCTN3	chr9:34617961	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G131fs	Indel	frameshift_variant	NA	-	ARID3C	chr9:34625740	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A123fs	Indel	frameshift_variant	NA	-	GALT	chr9:34648386	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	GALT	chr9:34648906	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C46fs	Indel	frameshift_variant	NA	-	MSMP	chr9:35753759	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T110M	SNV	missense	NA	Probably damaging	OR13J1	chr9:35870070	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H89_H92dup	Indel	disruptive_inframe_insertion	NA	-	HRCT1	chr9:35906544	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P222S	SNV	missense	NA	Probably damaging	CLTA	chr9:36211688	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	RNF38	chr9:36342357	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H346P	SNV	missense	NA	Probably damaging	RNF38	chr9:36353201	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H156Y	SNV	missense	NA	Possibly damaging	PAX5	chr9:37006479	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	GRHPR	chr9:37428551	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N145fs	Indel	frameshift_variant	NA	-	GRHPR	chr9:37430768	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G134A	SNV	missense	NA	Probably damaging	EXOSC3	chr9:37783984	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L507fs	Indel	frameshift_variant	NA	-	CNTNAP3	chr9:39149931	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T518I	SNV	missense	NA	Probably damaging	PGM5	chr9:71114216	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T127fs	Indel	frameshift_variant	NA	-	TMEM252	chr9:71152306	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C22W	SNV	missense	NA	-	TMEM252	chr9:71155665	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	FXN	chr9:71679941	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A21G	SNV	missense	NA	Probably damaging	FAM189A2	chr9:71986464	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A374G	SNV	missense	NA	Probably damaging	FAM189A2	chr9:72003338	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N151S	SNV	missense	NA	Probably damaging	C9orf40	chr9:77563097	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G95fs	Indel	frameshift_variant	NA	Probably damaging	C9orf40	chr9:77567244	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P2087T	SNV	missense	NA	Probably damaging	PRUNE2	chr9:79320931	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A568V	SNV	missense	NA	Probably damaging	TLE1	chr9:84205846	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R565C	SNV	missense	NA	Possibly damaging	TLE1	chr9:84205856	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P462T	SNV	missense	NA	Possibly damaging	TLE1	chr9:84208137	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P387L	SNV	missense	NA	benign	TLE1	chr9:84226778	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T115N	SNV	missense	NA	benign	TLE1	chr9:84267157	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N421fs	Indel	frameshift_variant	NA	-	UBQLN1	chr9:86281335	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P176L	SNV	missense	NA	Probably damaging	GKAP1	chr9:86399665	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T12I	SNV	missense	NA	Probably damaging	GKAP1	chr9:86421398	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	GOLM1	chr9:88694105	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P97fs	Indel	frameshift_variant	NA	-	C9orf153	chr9:88842264	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SPTLC1	chr9:94797166	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A235T	SNV	missense	NA	Possibly damaging	SPTLC1	chr9:94817764	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A121G	SNV	missense	NA	Possibly damaging	SPTLC1	chr9:94842363	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N136K	SNV	missense	NA	Probably damaging	ASPN	chr9:95228833	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E526G	SNV	missense	NA	Probably damaging	BICD2	chr9:95481350	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E358fs	Indel	frameshift_variant	NA	Probably damaging	BICD2	chr9:95481854	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A250fs	Indel	frameshift_variant	NA	-	SUSD3	chr9:95847005	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V132fs	Indel	frameshift_variant	NA	-	NINJ1	chr9:95887255	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N506fs	Indel	frameshift_variant	NA	-	FAM120A	chr9:96289451	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P91S	SNV	missense	NA	Probably damaging	CDC14B	chr9:99327115	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	CDC14B	chr9:99327763	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y126C	SNV	missense	NA	-	AAED1	chr9:99413716	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P470L	SNV	missense	NA	Probably damaging	NCBP1	chr9:100420957	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R91C	SNV	missense	NA	Probably damaging	FOXE1	chr9:100616467	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F230C	SNV	missense	NA	Probably damaging	CORO2A	chr9:100894543	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	LPPR1	chr9:104079779	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M233K	SNV	missense	NA	Probably damaging	ALDOB	chr9:104187836	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P97S	SNV	missense	NA	Probably damaging	TMEM38B	chr9:108483837	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PALM2	chr9:112629853	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W3X	SNV	stop_gained	NA	-	AKAP2	chr9:112810987	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A80V	SNV	missense	NA	Probably damaging	SLC31A1	chr9:116021010	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A248D	SNV	missense	NA	Probably damaging	TNFSF15	chr9:117552745	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y188D	SNV	missense	NA	Probably damaging	TNFSF15	chr9:117552926	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S191fs	Indel	frameshift_variant	NA	-	TNFSF8	chr9:117666341	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	PHF19	chr9:123627986	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R250G	SNV	missense	NA	Probably damaging	LHX6	chr9:124976597	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L32fs	Indel	frameshift_variant	NA	-	OR1J2	chr9:125273172	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S265fs	Indel	frameshift_variant	NA	-	OR1J4	chr9:125282211	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M32fs	Indel	frameshift_variant	NA	-	OR1N1	chr9:125289476	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I39fs	Indel	frameshift_variant	NA	-	OR1Q1	chr9:125377122	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q234X	SNV	stop_gained	NA	-	ZBTB26	chr9:125681514	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	NR5A1	chr9:127255404	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R114W	SNV	missense	NA	Probably damaging	NR5A1	chr9:127262899	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	RPL35	chr9:127623696	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N355K	SNV	missense	NA	Probably damaging	SCAI	chr9:127765462	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y186D	SNV	missense	NA	Probably damaging	SCAI	chr9:127789116	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I146T	SNV	missense	NA	Probably damaging	SCAI	chr9:127790716	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I388T	SNV	missense	NA	Probably damaging	HSPA5	chr9:128000940	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	MVB12B	chr9:129148877	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V404fs	Indel	frameshift_variant	NA	-	ZBTB43	chr9:129595994	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1fs	Indel	frameshift_variant	NA	-	RALGPS1	chr9:129724567	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G158S	SNV	missense	NA	Probably damaging	SLC2A8	chr9:130162231	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V328del	Indel	disruptive_inframe_deletion	NA	Probably damaging	SLC2A8	chr9:130167098	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q137fs	Indel	frameshift_variant	NA	-	RPL12	chr9:130210238	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q271X	SNV	stop_gained	NA	-	NAIF1	chr9:130825880	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter925GextX?	SNV	stop_lost	NA	-	CIZ1	chr9:130928478	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E532X	SNV	stop_gained	NA	-	CIZ1	chr9:130940674	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S68fs	Indel	frameshift_variant	NA	-	RP11-101E3.5	chr9:131715103	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y384C	SNV	missense	NA	Probably damaging	GPR107	chr9:132866718	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R181W	SNV	missense	NA	Probably damaging	EXOSC2	chr9:133577566	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R35fs	Indel	frameshift_variant	NA	-	FAM78A	chr9:134151463	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q511X	SNV	stop_gained	NA	-	GTF3C4	chr9:135554537	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F173del	Indel	disruptive_inframe_deletion	NA	-	GTF3C5	chr9:135919255	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V247fs	Indel	frameshift_variant	NA	-	RPL7A	chr9:136218157	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F176S	SNV	missense	NA	Probably damaging	SURF2	chr9:136227150	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K238X	SNV	stop_gained	NA	-	SURF2	chr9:136227956	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K238M	SNV	missense	NA	Probably damaging	SURF2	chr9:136227957	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C50Y	SNV	missense	NA	-	CACFD1	chr9:136328632	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W63X	SNV	stop_gained	NA	-	CACFD1	chr9:136328672	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R397W	SNV	missense	NA	Probably damaging	ADAMTSL2	chr9:136412258	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R594W	SNV	missense	NA	Probably damaging	BRD3	chr9:136901310	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P24R	SNV	missense	NA	Probably damaging	BRD3	chr9:136918529	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	FCN1	chr9:137801763	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N193fs	Indel	frameshift_variant	NA	-	OLFM1	chr9:137990249	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T411M	SNV	missense	NA	Probably damaging	OLFM1	chr9:138011798	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S98fs	Indel	frameshift_variant	NA	-	GLT6D1	chr9:138516480	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N46del	Indel	disruptive_inframe_deletion	NA	-	C9orf172	chr9:139739000	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y345del	Indel	disruptive_inframe_deletion	NA	-	C9orf172	chr9:139739894	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C73R	SNV	missense	NA	Probably damaging	MAMDC4	chr9:139747799	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	MAMDC4	chr9:139748361	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T1017K	SNV	missense	NA	Probably damaging	MAMDC4	chr9:139752990	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	LCN12	chr9:139847342	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	LCNL1	chr9:139878161	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G386R	SNV	missense	NA	Probably damaging	GRIN1	chr9:140052955	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S762W	SNV	missense	NA	Probably damaging	GRIN1	chr9:140057671	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P788L	SNV	missense	NA	Probably damaging	GRIN1	chr9:140057749	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K24R	SNV	missense	NA	Probably damaging	MRPL41	chr9:140446604	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G37S	SNV	missense	NA	Probably damaging	MRPL41	chr9:140446642	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C249fs	Indel	frameshift_variant	NA	-	ZMYND11	chr10:286041	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G62R	SNV	missense	NA	Probably damaging	AKR1C2	chr10:5043774	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A79T	SNV	missense	NA	Probably damaging	ANKRD16	chr10:5931083	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q245X	SNV	stop_gained	NA	-	ITIH5	chr10:7659165	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	ATP5C1	chr10:7830172	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y222X	SNV	stop_gained	NA	-	GATA3	chr10:8100692	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C321S	SNV	missense	NA	Probably damaging	GATA3	chr10:8111473	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q1206X	SNV	stop_gained	NA	-	UPF2	chr10:11973712	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K873N	SNV	missense	NA	Probably damaging	UPF2	chr10:11997462	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y808N	SNV	missense	NA	Probably damaging	UPF2	chr10:11998471	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K184X	SNV	stop_gained	NA	-	BEND7	chr10:13538787	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W154L	SNV	missense	NA	Probably damaging	CDNF	chr10:14862082	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q103X	SNV	stop_gained	NA	-	SUV39H2	chr10:14938974	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E387X	SNV	stop_gained	NA	-	DCLRE1C	chr10:14951327	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C272S	SNV	missense	NA	Possibly damaging	DCLRE1C	chr10:14970117	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P185fs	Indel	frameshift_variant	NA	-	OLAH	chr10:15106492	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G214S	SNV	missense	NA	Probably damaging	OLAH	chr10:15107661	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A189G	SNV	missense	NA	Probably damaging	C1QL3	chr10:16562499	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L90del	Indel	inframe_deletion	NA	-	TMEM236	chr10:17813317	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V411fs	Indel	frameshift_variant	NA	-	MLLT10	chr10:21962451	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T447fs	Indel	frameshift_variant	NA	-	MLLT10	chr10:21962562	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E759G	SNV	missense	NA	Probably damaging	MLLT10	chr10:22021885	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q1001X	SNV	stop_gained	NA	-	MLLT10	chr10:22029004	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I408fs	Indel	frameshift_variant	NA	-	COMMD3-BMI1	chr10:22618282	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H279Q	SNV	missense	NA	Probably damaging	PTF1A	chr10:23482685	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R161X	SNV	stop_gained	NA	-	ENKUR	chr10:25279505	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N104T	SNV	missense	NA	Probably damaging	LYZL1	chr10:29581481	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L566fs	Indel	frameshift_variant	NA	-	ZNF438	chr10:31137635	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C537Y	SNV	missense	NA	Probably damaging	ZNF438	chr10:31137724	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L469fs	Indel	frameshift_variant	NA	Probably damaging	ZNF438	chr10:31137927	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L37X	SNV	stop_gained	NA	-	C10ORF68	chr10:32974964	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R413I	SNV	missense	NA	Probably damaging	ITGB1	chr10:33209204	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y137F	SNV	missense	NA	Probably damaging	CREM	chr10:35467911	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R320X	SNV	stop_gained	NA	-	CREM	chr10:35500603	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P220fs	Indel	frameshift_variant	NA	-	FZD8	chr10:35929694	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T636_A637insGT	Indel	disruptive_inframe_insertion	NA	-	AGAP4	chr10:46321447	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L241P	SNV	missense	NA	-	NPY4R	chr10:47087505	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D168fs	Indel	frameshift_variant	NA	-	ANXA8L2	chr10:47756039	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P166Q	SNV	missense	NA	Probably damaging	ZNF488	chr10:48371029	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A165fs	Indel	frameshift_variant	NA	-	PTPN20B	chr10:48771404	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T33A	SNV	missense	NA	Probably damaging	C10orf71	chr10:50530687	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R24X	SNV	stop_gained	NA	-	NCOA4	chr10:51580695	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E138K	SNV	missense	NA	Probably damaging	CSTF2T	chr10:53458898	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S2X	SNV	stop_gained	NA	-	CSTF2T	chr10:53459305	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C91X	SNV	stop_gained	NA	-	DKK1	chr10:54074712	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	DKK1	chr10:54076460	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C236F	SNV	missense	NA	Probably damaging	MBL2	chr10:54527937	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N207K	SNV	missense	NA	Probably damaging	MBL2	chr10:54528023	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G148R	SNV	missense	NA	Probably damaging	IPMK	chr10:59976010	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y90C	SNV	missense	NA	Probably damaging	IPMK	chr10:59997497	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T108fs	Indel	frameshift_variant	NA	-	CISD1	chr10:60047402	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R17X	SNV	stop_gained	NA	-	NRBF2	chr10:64905987	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q198X	SNV	stop_gained	NA	-	NRBF2	chr10:64913706	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S85G	SNV	missense	NA	Probably damaging	REEP3	chr10:65357854	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E283fs	Indel	frameshift_variant	NA	-	PBLD	chr10:70043954	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R259H	SNV	missense	NA	Probably damaging	DDX21	chr10:70723215	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F3del	Indel	disruptive_inframe_deletion	NA	-	SUPV3L1	chr10:70940052	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q32X	SNV	stop_gained	NA	-	TACR2	chr10:71175986	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R161X	SNV	stop_gained	NA	-	TSPAN15	chr10:71258063	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	H2AFY2	chr10:71860054	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	H2AFY2	chr10:71868839	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I24N	SNV	missense	NA	Probably damaging	EIF4EBP2	chr10:72164228	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PCBD1	chr10:72643806	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	C10orf54	chr10:73515115	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	DDIT4	chr10:74034452	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G447R	SNV	missense	NA	Probably damaging	P4HA1	chr10:74774011	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R311H	SNV	missense	NA	Probably damaging	P4HA1	chr10:74806828	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L65fs	Indel	frameshift_variant	NA	-	MRPS16	chr10:75011602	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	FUT11	chr10:75532094	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L15P	SNV	missense	NA	-	AC022400.2	chr10:75532335	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F171L	SNV	missense	NA	Probably damaging	FUT11	chr10:75532604	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P870H	SNV	missense	NA	Probably damaging	NDST2	chr10:75562252	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R852W	SNV	missense	NA	Probably damaging	NDST2	chr10:75562307	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W213X	SNV	stop_gained	NA	-	SAMD8	chr10:76910736	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N35D	SNV	missense	NA	Probably damaging	C10orf11	chr10:77795821	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L46X	SNV	stop_gained	NA	-	C10orf11	chr10:77795855	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G188A	SNV	missense	NA	Probably damaging	PPIF	chr10:81113537	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C237X	SNV	stop_gained	NA	-	ZCCHC24	chr10:81146116	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G95R	SNV	missense	NA	Probably damaging	SFTPA1	chr10:81372133	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K263del	Indel	disruptive_inframe_deletion	NA	-	SFTPD	chr10:81697945	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H92D	SNV	missense	NA	-	TMEM254	chr10:81841923	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T265del	Indel	disruptive_inframe_deletion	NA	-	NRG3	chr10:83635879	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	NRG3	chr10:84118493	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R48X	SNV	stop_gained	NA	-	NRG3	chr10:84118501	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E703fs	Indel	frameshift_variant	NA	-	NRG3	chr10:84745298	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q107X	SNV	stop_gained	NA	-	SNCG	chr10:88722388	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	LIPN	chr10:90521165	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D113G	SNV	missense	NA	Probably damaging	LIPN	chr10:90524278	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A156T	SNV	missense	NA	Probably damaging	ANKRD1	chr10:92677575	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G594V	SNV	missense	NA	Probably damaging	CPEB3	chr10:93841165	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L467P	SNV	missense	NA	Probably damaging	CPEB3	chr10:93902839	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RBP4	chr10:95360562	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y225X	SNV	stop_gained	NA	-	CYP2C18	chr10:96466573	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N277fs	Indel	frameshift_variant	NA	-	CYP2C19	chr10:96580259	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	CYP2C8	chr10:96818196	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R353X	SNV	stop_gained	NA	-	BLNK	chr10:97959869	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V46fs	Indel	frameshift_variant	NA	-	ARHGAP19-SLIT1	chr10:99025803	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	EXOSC1	chr10:99205711	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	PI4K2A	chr10:99426203	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M201T	SNV	missense	NA	Probably damaging	COX15	chr10:101483861	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L139Q	SNV	missense	NA	Probably damaging	BLOC1S2	chr10:102035232	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D293_G295dup	Indel	inframe_insertion	NA	-	WNT8B	chr10:102242386	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G126V	SNV	missense	NA	Possibly damaging	PDZD7	chr10:102783358	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S130X	SNV	stop_gained	NA	-	KAZALD1	chr10:102822738	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q253E	SNV	missense	NA	Possibly damaging	LDB1	chr10:103869240	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P829del	Indel	inframe_deletion	NA	-	PPRC1	chr10:103900747	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N1322T	SNV	missense	NA	Probably damaging	PPRC1	chr10:103906714	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H274P	SNV	missense	NA	Probably damaging	PITX3	chr10:103990359	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N175S	SNV	missense	NA	Probably damaging	PITX3	chr10:103990656	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R120G	SNV	missense	NA	Probably damaging	PITX3	chr10:103990822	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_acceptor_variant	NA	-	ARL3	chr10:104445759	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I92T	SNV	missense	NA	Probably damaging	ARL3	chr10:104449690	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y296C	SNV	missense	NA	Probably damaging	CALHM2	chr10:105206994	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S140X	SNV	stop_gained	NA	-	CALHM2	chr10:105209280	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C130Y	SNV	missense	NA	Probably damaging	CALHM2	chr10:105209310	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q249fs	Indel	frameshift_variant	NA	-	SFR1	chr10:105885275	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C408R	SNV	missense	NA	Probably damaging	ITPRIP	chr10:106074588	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L171F	SNV	missense	NA	Probably damaging	ITPRIP	chr10:106075297	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S762C	SNV	missense	NA	Probably damaging	SORCS1	chr10:108427466	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S718fs	Indel	frameshift_variant	NA	Probably damaging	SORCS1	chr10:108431031	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H602Y	SNV	missense	NA	Probably damaging	SORCS1	chr10:108437099	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P249Q	SNV	missense	NA	Probably damaging	SORCS1	chr10:108536431	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K118fs	Indel	frameshift_variant	NA	-	ADRA2A	chr10:112838105	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W289C	SNV	missense	NA	Probably damaging	ZDHHC6	chr10:114194091	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K1011X	SNV	stop_gained	NA	-	DCLRE1A	chr10:115595003	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I881M	SNV	missense	NA	Probably damaging	DCLRE1A	chr10:115602124	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I687fs	Indel	frameshift_variant	NA	Probably damaging	DCLRE1A	chr10:115608804	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W199X	SNV	stop_gained	NA	-	ADRB1	chr10:115804488	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S264Y	SNV	missense	NA	Probably damaging	FAM160B1	chr10:116602960	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R125fs	Indel	frameshift_variant	NA	-	CCDC172	chr10:118101638	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	C10orf82	chr10:118423684	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q47fs	Indel	frameshift_variant	NA	-	C10orf82	chr10:118425252	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P78L	SNV	missense	NA	Probably damaging	HSPA12A	chr10:118464683	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A78T	SNV	missense	NA	Probably damaging	TIAL1	chr10:121342018	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T301R	SNV	missense	NA	Probably damaging	NSMCE4A	chr10:123720975	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P227L	SNV	missense	NA	Probably damaging	NSMCE4A	chr10:123724874	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A1815fs	Indel	frameshift_variant	NA	-	DMBT1	chr10:124389809	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R102G	SNV	missense	NA	Probably damaging	IKZF5	chr10:124755522	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter105SextX?	SNV	stop_lost	NA	-	METTL10	chr10:126463333	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S182del	Indel	inframe_deletion	NA	-	FAM175B	chr10:126517407	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L43P	SNV	missense	NA	Probably damaging	UROS	chr10:127504765	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	BCCIP	chr10:127519988	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P201L	SNV	missense	NA	Probably damaging	C10orf90	chr10:128193458	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L200fs	Indel	frameshift_variant	NA	Probably damaging	C10orf90	chr10:128193462	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P145H	SNV	missense	NA	Probably damaging	GLRX3	chr10:131959217	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G211V	SNV	missense	NA	Probably damaging	GLRX3	chr10:131964924	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	GLRX3	chr10:131973150	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G155D	SNV	missense	NA	Probably damaging	BNIP3	chr10:133784217	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R204X	SNV	stop_gained	NA	-	STK32C	chr10:134041552	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S97Y	SNV	missense	NA	Probably damaging	INPP5A	chr10:134463993	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SCGB1C1	chr11:193155	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E15X	SNV	stop_gained	NA	-	BET1L	chr11:206020	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A56G	SNV	missense	NA	Probably damaging	IFITM5	chr11:299324	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	PKP3	chr11:396972	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L137fs	Indel	frameshift_variant	NA	-	LRRC56	chr11:549982	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E352fs	Indel	frameshift_variant	NA	-	LRRC56	chr11:552098	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	LRRC56	chr11:553962	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W468X	SNV	stop_gained	NA	-	LRRC56	chr11:554050	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R281fs	Indel	frameshift_variant	NA	-	CDHR5	chr11:620334	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C98fs	Indel	frameshift_variant	NA	-	CDHR5	chr11:624230	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D100N	SNV	missense	NA	Probably damaging	PDDC1	chr11:773579	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R291H	SNV	missense	NA	Probably damaging	SLC25A22	chr11:792015	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L84P	SNV	missense	NA	Probably damaging	SLC25A22	chr11:793571	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G16C	SNV	missense	NA	Probably damaging	SLC25A22	chr11:794876	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q331X	SNV	stop_gained	NA	-	PIDD	chr11:802380	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PIDD	chr11:802681	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G22fs	Indel	frameshift_variant	NA	-	EFCAB4A	chr11:828666	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K154fs	Indel	frameshift_variant	NA	-	KRTAP5-1	chr11:1606021	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C114fs	Indel	frameshift_variant	NA	-	KRTAP5-4	chr11:1642983	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G186R	SNV	missense	NA	-	RP11-295K3.1	chr11:1775250	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P174L	SNV	missense	NA	-	RP11-295K3.1	chr11:1775285	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T297fs	Indel	frameshift_variant	NA	-	SYT8	chr11:1858240	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P291L	SNV	missense	NA	Probably damaging	CHRNA10	chr11:3688485	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q82X	SNV	stop_gained	NA	-	CHRNA10	chr11:3688566	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter97CextX?	SNV	stop_lost	NA	-	CHRNA10	chr11:3690559	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L202P	SNV	missense	NA	Probably damaging	PGAP2	chr11:3845282	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter90YextX?	SNV	stop_lost	NA	-	TRIM21	chr11:4406562	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P272fs	Indel	frameshift_variant	NA	-	OR52M1	chr11:4567232	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C207S	SNV	missense	NA	Probably damaging	OR52I1	chr11:4615815	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K238R	SNV	missense	NA	Probably damaging	OR51E1	chr11:4674469	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C198R	SNV	missense	NA	Probably damaging	OR51F1	chr11:4790577	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S149fs	Indel	frameshift_variant	NA	-	OR51G1	chr11:4945124	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S151del	Indel	disruptive_inframe_deletion	NA	-	OR51A4	chr11:4967876	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N289D	SNV	missense	NA	Probably damaging	OR52E2	chr11:5079993	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S190fs	Indel	frameshift_variant	NA	Probably damaging	OR52E2	chr11:5080288	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W33X	SNV	stop_gained	NA	-	HBD	chr11:5254316	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P125fs	Indel	frameshift_variant	NA	-	HBG1	chr11:5269657	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A137fs	Indel	frameshift_variant	NA	-	HBE1	chr11:5289734	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D44fs	Indel	frameshift_variant	NA	-	HBE1	chr11:5290869	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C187Y	SNV	missense	NA	Probably damaging	OR51B5	chr11:5364195	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T92fs	Indel	frameshift_variant	NA	-	OR51M1	chr11:5410898	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I22fs	Indel	frameshift_variant	NA	-	OR51I1	chr11:5462681	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	OR52N1	chr11:5810045	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I198M	SNV	missense	NA	Probably damaging	OR52E8	chr11:5878339	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F307S	SNV	missense	NA	Probably damaging	ILK	chr11:6631018	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	ILK	chr11:6631411	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T387I	SNV	missense	NA	Probably damaging	ILK	chr11:6631460	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	ILK	chr11:6631833	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A119V	SNV	missense	NA	Probably damaging	OR2AG2	chr11:6789833	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P79T	SNV	missense	NA	Probably damaging	OR2AG1	chr11:6806503	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y252X	SNV	stop_gained	NA	-	OR2D2	chr11:6912976	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G108E	SNV	missense	NA	Probably damaging	OR2D2	chr11:6913409	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H244Y	SNV	missense	NA	Probably damaging	OR10A6	chr11:7949480	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D524fs	Indel	frameshift_variant	NA	-	NLRP10	chr11:7981589	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q504X	SNV	stop_gained	NA	-	NLRP10	chr11:7981649	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H45Q	SNV	missense	NA	Probably damaging	LMO1	chr11:8251942	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y35H	SNV	missense	NA	Probably damaging	LMO1	chr11:8251974	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K730M	SNV	missense	NA	Probably damaging	ST5	chr11:8732762	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y488C	SNV	missense	NA	Probably damaging	ST5	chr11:8747634	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K167X	SNV	stop_gained	NA	-	ST5	chr11:8752338	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	AKIP1	chr11:8934077	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G149fs	Indel	frameshift_variant	NA	-	AKIP1	chr11:8938869	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K43N	SNV	missense	NA	Probably damaging	ADM	chr11:10327526	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R234P	SNV	missense	NA	Probably damaging	BTBD10	chr11:13438715	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N217S	SNV	missense	NA	Probably damaging	BTBD10	chr11:13438766	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R176X	SNV	stop_gained	NA	-	BTBD10	chr11:13441089	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SPON1	chr11:14281248	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R179Q	SNV	missense	NA	Probably damaging	RRAS2	chr11:14303157	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L70P	SNV	missense	NA	Probably damaging	RRAS2	chr11:14317319	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D126del	Indel	inframe_deletion	NA	-	C11orf58	chr11:16776468	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R221H	SNV	missense	NA	Probably damaging	KCNJ11	chr11:17408977	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R54H	SNV	missense	NA	Probably damaging	KCNJ11	chr11:17409478	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	SAA4	chr11:18257473	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V353M	SNV	missense	NA	Probably damaging	TSG101	chr11:18503203	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K297fs	Indel	frameshift_variant	NA	-	MRGPRX2	chr11:19077058	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P238S	SNV	missense	NA	Probably damaging	MRGPRX2	chr11:19077238	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R513C	SNV	missense	NA	Probably damaging	PRMT3	chr11:20529900	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q211dup	Indel	inframe_insertion	NA	-	FANCF	chr11:22646722	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q68fs	Indel	frameshift_variant	NA	-	FANCF	chr11:22647154	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G541R	SNV	missense	NA	Probably damaging	KCNA4	chr11:30032605	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R225H	SNV	missense	NA	Probably damaging	KCNA4	chr11:30033552	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C38F	SNV	missense	NA	Probably damaging	FSHB	chr11:30253562	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D89V	SNV	missense	NA	Probably damaging	FSHB	chr11:30255223	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S154F	SNV	missense	NA	Probably damaging	MPPED2	chr11:30516918	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y71X	SNV	stop_gained	NA	-	EHF	chr11:34668035	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y170C	SNV	missense	NA	Probably damaging	APIP	chr11:34909843	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P289L	SNV	missense	NA	Probably damaging	SLC1A2	chr11:35314059	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S194fs	Indel	frameshift_variant	NA	-	FJX1	chr11:35640760	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L268fs	Indel	frameshift_variant	NA	-	FJX1	chr11:35640981	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R194fs	Indel	frameshift_variant	NA	-	TRIM44	chr11:35685238	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T115fs	Indel	frameshift_variant	NA	-	LDLRAD3	chr11:36119897	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	COMMD9	chr11:36296189	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H91Y	SNV	missense	NA	Probably damaging	COMMD9	chr11:36300073	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter523QextX?	SNV	stop_lost	NA	-	TRAF6	chr11:36511390	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	TRAF6	chr11:36523065	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M11L	SNV	missense	NA	Probably damaging	C11orf74	chr11:36631684	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K191E	SNV	missense	NA	Probably damaging	C11orf74	chr11:36680641	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q200X	SNV	stop_gained	NA	-	ACCS	chr11:44098870	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y377S	SNV	missense	NA	Probably damaging	ACCS	chr11:44104737	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I60M	SNV	missense	NA	Probably damaging	CD82	chr11:44626651	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G173D	SNV	missense	NA	Probably damaging	PRDM11	chr11:45204604	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R225W	SNV	missense	NA	Probably damaging	PRDM11	chr11:45241137	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T199P	SNV	missense	NA	Probably damaging	SLC35C1	chr11:45832386	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S292R	SNV	missense	NA	Probably damaging	CRY2	chr11:45889232	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R460H	SNV	missense	NA	Probably damaging	CRY2	chr11:45891725	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q104X	SNV	stop_gained	NA	-	MDK	chr11:46404202	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q826X	SNV	stop_gained	NA	-	AMBRA1	chr11:46515203	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A69T	SNV	missense	NA	Probably damaging	AMBRA1	chr11:46568836	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R323Q	SNV	missense	NA	Probably damaging	ARHGAP1	chr11:46701257	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L237fs	Indel	frameshift_variant	NA	Probably damaging	ARHGAP1	chr11:46702222	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P260S	SNV	missense	NA	Probably damaging	SLC39A13	chr11:47436018	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C400Y	SNV	missense	NA	Probably damaging	PSMC3	chr11:47440677	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G138E	SNV	missense	NA	Probably damaging	PSMC3	chr11:47446020	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T141fs	Indel	frameshift_variant	NA	-	PTPMT1	chr11:47591416	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y27H	SNV	missense	NA	Probably damaging	OR4X2	chr11:48266734	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C238fs	Indel	frameshift_variant	NA	-	OR4X1	chr11:48286121	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter330KextX?	SNV	stop_lost	NA	-	OR4C3	chr11:48347480	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D119E	SNV	missense	NA	Probably damaging	OR4A47	chr11:48510701	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N281I	SNV	missense	NA	Probably damaging	OR4C16	chr11:55340445	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T92fs	Indel	frameshift_variant	NA	-	OR5D18	chr11:55587377	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F109S	SNV	missense	NA	Probably damaging	OR5I1	chr11:55703551	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y35X	SNV	stop_gained	NA	-	OR8H1	chr11:56058434	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A96fs	Indel	frameshift_variant	NA	-	OR5R1	chr11:56185421	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y60X	SNV	stop_gained	NA	-	OR5R1	chr11:56185529	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S241Y	SNV	missense	NA	Probably damaging	OR5M3	chr11:56237252	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H311fs	Indel	frameshift_variant	NA	-	OR5M1	chr11:56380048	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G233fs	Indel	frameshift_variant	NA	-	OR5M1	chr11:56380280	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D121Y	SNV	missense	NA	Probably damaging	OR5M1	chr11:56380618	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N187Y	SNV	missense	NA	Probably damaging	OR9G4	chr11:56510729	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G167X	SNV	stop_gained	NA	-	OR9G4	chr11:56510789	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S239X	SNV	stop_gained	NA	-	OR5AK2	chr11:56757104	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R208X	SNV	stop_gained	NA	-	LRRC55	chr11:56949989	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S12L	SNV	missense	NA	-	RP11-872D17.8	chr11:57177552	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N325S	SNV	missense	NA	Probably damaging	SERPING1	chr11:57373669	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C240Y	SNV	missense	NA	Probably damaging	OR9Q1	chr11:57947635	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P285S	SNV	missense	NA	Probably damaging	OR5B3	chr11:58170030	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter315LextX?	SNV	stop_lost	NA	-	OR5B12	chr11:58206681	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F220fs	Indel	frameshift_variant	NA	-	OR5B12	chr11:58206964	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	GLYATL1	chr11:58711017	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P79fs	Indel	frameshift_variant	NA	-	OR10V1	chr11:59481082	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N185del	Indel	disruptive_inframe_deletion	NA	-	GIF	chr11:59608751	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D105G	SNV	missense	NA	Probably damaging	GIF	chr11:59610557	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L92P	SNV	missense	NA	Probably damaging	GIF	chr11:59610596	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C220X	SNV	stop_gained	NA	-	MS4A6A	chr11:59940576	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	CCDC86	chr11:60609599	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R59X	SNV	stop_gained	NA	-	TMEM109	chr11:60687340	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L123fs	Indel	frameshift_variant	NA	-	VPS37C	chr11:60899992	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C407W	SNV	missense	NA	Probably damaging	VWCE	chr11:61048274	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_acceptor_variant	NA	-	CYB561A3	chr11:61118620	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q339X	SNV	stop_gained	NA	-	PPP1R32	chr11:61254684	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R547X	SNV	stop_gained	NA	-	DAGLA	chr11:61505662	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q400X	SNV	stop_gained	NA	-	BEST1	chr11:61730004	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	FTH1	chr11:61734844	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S84fs	Indel	frameshift_variant	NA	-	ROM1	chr11:62381003	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y93X	SNV	stop_gained	NA	-	ROM1	chr11:62381032	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R329X	SNV	stop_gained	NA	-	BSCL2	chr11:62458772	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SLC22A10	chr11:63058040	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S16fs	Indel	frameshift_variant	NA	-	LGALS12	chr11:63273907	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N111S	SNV	missense	NA	Probably damaging	LGALS12	chr11:63276354	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C113G	SNV	missense	NA	Probably damaging	HRASLS2	chr11:63325914	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	MACROD1	chr11:63766474	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N232K	SNV	missense	NA	Probably damaging	FLRT1	chr11:63884435	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I100N	SNV	missense	NA	Probably damaging	TRPT1	chr11:63992301	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L31fs	Indel	frameshift_variant	NA	Probably damaging	TRPT1	chr11:63993036	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E209Q	SNV	missense	NA	Probably damaging	SF1	chr11:64537867	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q65X	SNV	stop_gained	NA	-	SSSCA1	chr11:65338378	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G127X	SNV	stop_gained	NA	-	SSSCA1	chr11:65338984	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S173F	SNV	missense	NA	Probably damaging	SSSCA1	chr11:65339123	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y228C	SNV	missense	NA	Probably damaging	MAP3K11	chr11:65380545	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G82S	SNV	missense	NA	Probably damaging	MAP3K11	chr11:65380984	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W16X	SNV	stop_gained	NA	-	MAP3K11	chr11:65381181	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L253F	SNV	missense	NA	Probably damaging	EFEMP2	chr11:65636071	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q230X	SNV	stop_gained	NA	-	EFEMP2	chr11:65637367	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q55X	SNV	stop_gained	NA	-	DRAP1	chr11:65687466	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	CATSPER1	chr11:65789235	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y309fs	Indel	frameshift_variant	NA	-	CATSPER1	chr11:65792926	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q271fs	Indel	frameshift_variant	NA	-	SF3B2	chr11:65825552	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I564T	SNV	missense	NA	Probably damaging	SF3B2	chr11:65828114	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R609Q	SNV	missense	NA	Probably damaging	PACS1	chr11:66000525	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P41S	SNV	missense	NA	Probably damaging	CNIH2	chr11:66049769	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P327T	SNV	missense	NA	Probably damaging	B3GNT1	chr11:66114038	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y335X	SNV	stop_gained	NA	-	NPAS4	chr11:66191366	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F273L	SNV	missense	NA	Probably damaging	ZDHHC24	chr11:66307036	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G182fs	Indel	frameshift_variant	NA	-	ACTN3	chr11:66321548	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R809X	SNV	stop_gained	NA	-	ACTN3	chr11:66329613	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A259fs	Indel	frameshift_variant	NA	-	RBM14-RBM4	chr11:66411355	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R201fs	Indel	frameshift_variant	NA	-	RHOD	chr11:66839020	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P82fs	Indel	frameshift_variant	NA	-	POLD4	chr11:67120215	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G326V	SNV	missense	NA	Probably damaging	CORO1B	chr11:67207619	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G58S	SNV	missense	NA	Probably damaging	CORO1B	chr11:67209928	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F157S	SNV	missense	NA	Probably damaging	TMEM134	chr11:67232309	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T855fs	Indel	frameshift_variant	NA	-	PITPNM1	chr11:67262614	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R340X	SNV	stop_gained	NA	-	PITPNM1	chr11:67267430	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E96fs	Indel	frameshift_variant	NA	-	NUDT8	chr11:67396430	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y158X	SNV	stop_gained	NA	-	UNC93B1	chr11:67767069	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K272fs	Indel	frameshift_variant	NA	-	C11orf24	chr11:68029645	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G44A	SNV	missense	NA	Probably damaging	GAL	chr11:68453111	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	MRPL21	chr11:68660357	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P52T	SNV	missense	NA	Probably damaging	MRPL21	chr11:68665473	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	MRPL21	chr11:68668074	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C40X	SNV	stop_gained	NA	-	MRGPRD	chr11:68748336	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L929Q	SNV	missense	NA	Probably damaging	PPFIA1	chr11:70208515	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P119_C120insCCCQSSCCKP	Indel	disruptive_inframe_insertion	NA	-	KRTAP5-7	chr11:71238675	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T123P	SNV	missense	NA	Probably damaging	RNF121	chr11:71693930	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	IL18BP	chr11:71711396	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R16X	SNV	stop_gained	NA	-	LAMTOR1	chr11:71810299	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W198X	SNV	stop_gained	NA	-	FOLR3	chr11:71850501	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G172X	SNV	stop_gained	NA	-	FOLR1	chr11:71906961	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y36C	SNV	missense	NA	Probably damaging	FAM168A	chr11:73141779	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D308fs	Indel	frameshift_variant	NA	-	POLD3	chr11:74340280	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C626W	SNV	missense	NA	Probably damaging	RNF169	chr11:74547526	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A73T	SNV	missense	NA	Probably damaging	NEU3	chr11:74705676	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A277D	SNV	missense	NA	Probably damaging	NEU3	chr11:74716981	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V317fs	Indel	frameshift_variant	NA	Probably damaging	NEU3	chr11:74717098	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S410G	SNV	missense	NA	Probably damaging	KLHL35	chr11:75136584	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P149S	SNV	missense	NA	Probably damaging	MOGAT2	chr11:75438654	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I232fs	Indel	frameshift_variant	NA	-	ACER3	chr11:76727813	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R195Q	SNV	missense	NA	Probably damaging	RSF1	chr11:77436739	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	AAMDC	chr11:77583305	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L134W	SNV	missense	NA	Probably damaging	INTS4	chr11:77690112	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K463N	SNV	missense	NA	Probably damaging	NARS2	chr11:78147761	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	RAB30	chr11:82705119	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R194L	SNV	missense	NA	Probably damaging	TAF1D	chr11:93470284	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E764fs	Indel	frameshift_variant	NA	-	AMOTL1	chr11:94599133	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R108K	SNV	missense	NA	Probably damaging	SESN3	chr11:94924587	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E315fs	Indel	frameshift_variant	NA	-	FAM76B	chr11:95504800	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K206X	SNV	stop_gained	NA	-	FAM76B	chr11:95512847	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E497X	SNV	stop_gained	NA	-	CCDC82	chr11:96092234	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E175del	Indel	disruptive_inframe_deletion	NA	-	CCDC82	chr11:96117384	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R31S	SNV	missense	NA	Probably damaging	CCDC82	chr11:96117819	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P353A	SNV	missense	NA	Probably damaging	YAP1	chr11:102094377	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W265R	SNV	missense	NA	Probably damaging	BIRC3	chr11:102196033	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A214T	SNV	missense	NA	Probably damaging	MMP27	chr11:102567546	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CASP4	chr11:104819405	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	MSANTD4	chr11:105881181	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	AASDHPPT	chr11:105948438	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L65fs	Indel	frameshift_variant	NA	-	AASDHPPT	chr11:105950203	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P92Q	SNV	missense	NA	Probably damaging	AASDHPPT	chr11:105950285	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K128X	SNV	stop_gained	NA	-	RAB39A	chr11:107832826	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E194X	SNV	stop_gained	NA	-	C11orf65	chr11:108264086	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D272fs	Indel	frameshift_variant	NA	-	PIH1D2	chr11:111938727	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A234fs	Indel	frameshift_variant	NA	-	PIH1D2	chr11:111941272	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L128fs	Indel	frameshift_variant	NA	-	PIH1D2	chr11:111941921	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T89fs	Indel	frameshift_variant	NA	-	PIH1D2	chr11:111942392	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F137S	SNV	missense	NA	Probably damaging	IL18	chr11:112014491	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	IL18	chr11:112020909	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I196S	SNV	missense	NA	-	AP002884.3	chr11:112071363	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	AMICA1	chr11:118081428	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G45X	SNV	stop_gained	NA	-	MPZL3	chr11:118111033	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	RP11-770J1.5	chr11:118272381	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F507L	SNV	missense	NA	Probably damaging	ARCN1	chr11:118468578	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q27X	SNV	stop_gained	NA	-	CCDC84	chr11:118868986	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CCDC84	chr11:118881930	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q85P	SNV	missense	NA	Probably damaging	H2AFX	chr11:118965851	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L556fs	Indel	frameshift_variant	NA	-	MFRP	chr11:119212332	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P165L	SNV	missense	NA	Probably damaging	MFRP	chr11:119216277	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R18fs	Indel	frameshift_variant	NA	-	THY1	chr11:119291081	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q84H	SNV	missense	NA	Probably damaging	ZNF202	chr11:123601345	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	OR8D1	chr11:124180660	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	ESAM	chr11:124632048	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V88fs	Indel	frameshift_variant	NA	-	HEPN1	chr11:124789906	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N104Y	SNV	missense	NA	Probably damaging	HEPACAM	chr11:124794741	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R22X	SNV	stop_gained	NA	-	SLC37A2	chr11:124946657	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G200R	SNV	missense	NA	Probably damaging	EI24	chr11:125450025	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L191F	SNV	missense	NA	Probably damaging	TIRAP	chr11:126162875	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G131fs	Indel	frameshift_variant	NA	-	C11orf45	chr11:128772497	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q82X	SNV	stop_gained	NA	-	TP53AIP1	chr11:128807470	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R688W	SNV	missense	NA	Probably damaging	PRDM10	chr11:129788598	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K679N	SNV	missense	NA	Probably damaging	PRDM10	chr11:129793152	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K642N	SNV	missense	NA	Probably damaging	PRDM10	chr11:129793263	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P209R	SNV	missense	NA	Probably damaging	PRDM10	chr11:129814802	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	Probably damaging	PRDM10	chr11:129830857	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SNX19	chr11:130776519	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E627V	SNV	missense	NA	Probably damaging	SNX19	chr11:130780199	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V3fs	Indel	frameshift_variant	NA	-	NTM	chr11:131781377	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G268A	SNV	missense	NA	Possibly damaging	NTM	chr11:132184466	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SPATA19	chr11:133712458	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D2295V	SNV	missense	NA	Probably damaging	WNK1	chr12:998331	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R88W	SNV	missense	NA	Probably damaging	TEAD4	chr12:3120205	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y314C	SNV	missense	NA	Probably damaging	TEAD4	chr12:3147177	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K378Q	SNV	missense	NA	Probably damaging	TEAD4	chr12:3149366	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E13G	SNV	missense	NA	Probably damaging	C12orf5	chr12:4440451	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G93R	SNV	missense	NA	Probably damaging	C12orf5	chr12:4460439	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	FGF23	chr12:4488595	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E64fs	Indel	frameshift_variant	NA	-	VAMP1	chr12:6575103	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N839fs	Indel	frameshift_variant	NA	-	NOP2	chr12:6666180	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y603C	SNV	missense	NA	Probably damaging	NOP2	chr12:6669344	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R601C	SNV	missense	NA	Probably damaging	NOP2	chr12:6669351	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E196X	SNV	stop_gained	NA	-	LPAR5	chr12:6729829	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q244X	SNV	stop_gained	NA	-	ING4	chr12:6760381	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L120P	SNV	missense	NA	Probably damaging	COPS7A	chr12:6838444	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	CD4	chr12:6909306	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N313fs	Indel	frameshift_variant	NA	-	CD4	chr12:6925549	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P100L	SNV	missense	NA	Probably damaging	PEX5	chr12:7343874	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S621L	SNV	missense	NA	Probably damaging	PEX5	chr12:7362698	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C621R	SNV	missense	NA	Probably damaging	CD163	chr12:7640144	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	CD163	chr12:7654059	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S238del	Indel	inframe_deletion	NA	-	C3AR1	chr12:8212067	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	FAM90A1	chr12:8375381	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	CLEC4E	chr12:8687284	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N120S	SNV	missense	NA	Probably damaging	MFAP5	chr12:8802147	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R212fs	Indel	frameshift_variant	NA	-	RIMKLB	chr12:8906622	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R45Q	SNV	missense	NA	Probably damaging	PHC1	chr12:9072371	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T322fs	Indel	frameshift_variant	NA	Probably damaging	PHC1	chr12:9083379	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E943K	SNV	missense	NA	Probably damaging	PHC1	chr12:9090623	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	CLEC2D	chr12:9840581	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R29X	SNV	stop_gained	NA	-	CLEC2B	chr12:10010225	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E85K	SNV	missense	NA	-	TMEM52B	chr12:10339134	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W132X	SNV	stop_gained	NA	-	KLRC4-KLRK1	chr12:10560306	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PRR4	chr12:10999967	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S43del	Indel	disruptive_inframe_deletion	NA	-	TAS2R19	chr12:11175042	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M209fs	Indel	frameshift_variant	NA	-	TAS2R31	chr12:11183309	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W66X	SNV	stop_gained	NA	-	TAS2R43	chr12:11244631	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q244del	Indel	disruptive_inframe_deletion	NA	-	PRB4	chr12:11461185	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter280RextX?	SNV	stop_lost	NA	-	APOLD1	chr12:12940584	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G67E	SNV	missense	NA	Probably damaging	RASSF8	chr12:26217527	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	TM7SF3	chr12:27127161	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q7fs	Indel	frameshift_variant	NA	-	REP15	chr12:27849512	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C49fs	Indel	frameshift_variant	NA	-	REP15	chr12:27849636	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T108I	SNV	missense	NA	Probably damaging	PTHLH	chr12:28116482	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E43G	SNV	missense	NA	Probably damaging	BICD1	chr12:32260393	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D316N	SNV	missense	NA	Probably damaging	BICD1	chr12:32458997	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter828RextX?	SNV	stop_lost	NA	Probably damaging	BICD1	chr12:32491741	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	DNM1L	chr12:32854495	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	DNM1L	chr12:32866233	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R486C	SNV	missense	NA	Probably damaging	DNM1L	chr12:32884848	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q595X	SNV	stop_gained	NA	-	DNM1L	chr12:32893034	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H685Y	SNV	missense	NA	Probably damaging	DNM1L	chr12:32895542	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I323M	SNV	missense	NA	-	GXYLT1	chr12:42491731	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M116fs	Indel	frameshift_variant	NA	-	GXYLT1	chr12:42512941	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N302S	SNV	missense	NA	Probably damaging	ARID2	chr12:46230656	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S682X	SNV	stop_gained	NA	-	ARID2	chr12:46243951	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C1667Y	SNV	missense	NA	Probably damaging	ARID2	chr12:46285640	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L166H	SNV	missense	NA	Probably damaging	SLC38A1	chr12:46601004	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L489V	SNV	missense	NA	Probably damaging	SLC38A4	chr12:47162170	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R362fs	Indel	frameshift_variant	NA	Probably damaging	SLC38A4	chr12:47170775	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y224N	SNV	missense	NA	Probably damaging	SLC38A4	chr12:47173441	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L216H	SNV	missense	NA	Probably damaging	SLC38A4	chr12:47173574	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	ENDOU	chr12:48110130	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R24fs	Indel	frameshift_variant	NA	-	OR10AD1	chr12:48597005	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L142X	SNV	stop_gained	NA	-	LALBA	chr12:48961744	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D46G	SNV	missense	NA	-	AC073610.5	chr12:49332764	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H81P	SNV	missense	NA	Probably damaging	WNT10B	chr12:49363967	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R402W	SNV	missense	NA	Probably damaging	MCRS1	chr12:49953006	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E227del	Indel	inframe_deletion	NA	Probably damaging	MCRS1	chr12:49957244	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	Probably damaging	MCRS1	chr12:49957313	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	FAIM2	chr12:50283263	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F190L	SNV	missense	NA	Possibly damaging	SMARCD1	chr12:50481184	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E395G	SNV	missense	NA	Probably damaging	SMARCD1	chr12:50488270	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter516QextX?	SNV	stop_lost	NA	Probably damaging	SMARCD1	chr12:50492781	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G269E	SNV	missense	NA	Probably damaging	TMPRSS12	chr12:51281055	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S9del	Indel	inframe_deletion	NA	-	SMAGP	chr12:51663035	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y370fs	Indel	frameshift_variant	NA	-	GRASP	chr12:52408899	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S429fs	Indel	frameshift_variant	NA	-	KRT80	chr12:52565255	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K427del	Indel	inframe_deletion	NA	-	KRT80	chr12:52565259	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q347fs	Indel	frameshift_variant	NA	-	KRT80	chr12:52566118	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S51X	SNV	stop_gained	NA	-	KRT80	chr12:52585535	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T410fs	Indel	frameshift_variant	NA	-	KRT83	chr12:52709711	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	KRT85	chr12:52757850	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G560_Y566del	Indel	disruptive_inframe_deletion	NA	-	KRT1	chr12:53069214	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G555fs	Indel	frameshift_variant	NA	-	KRT1	chr12:53069236	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I203S	SNV	missense	NA	Possibly damaging	KRT18	chr12:53344641	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Possibly damaging	KRT18	chr12:53345641	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R370W	SNV	missense	NA	Probably damaging	SPRYD3	chr12:53460381	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R78X	SNV	stop_gained	NA	-	SPRYD3	chr12:53470948	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R387Q	SNV	missense	NA	Probably damaging	RARG	chr12:53606886	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N165K	SNV	missense	NA	Probably damaging	RARG	chr12:53608371	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K136N	SNV	missense	NA	Probably damaging	RARG	chr12:53609144	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T349I	SNV	missense	NA	Probably damaging	SP7	chr12:53722180	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q316L	SNV	missense	NA	Possibly damaging	PCBP2	chr12:53865474	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q316H	SNV	missense	NA	Probably damaging	PCBP2	chr12:53865475	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	ATP5G2	chr12:54069836	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W147S	SNV	missense	NA	Probably damaging	OR6C6	chr12:55688577	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W409X	SNV	stop_gained	NA	-	SUOX	chr12:56398399	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	RNF41	chr12:56600329	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P6del	Indel	inframe_deletion	NA	-	COQ10A	chr12:56661507	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L390V	SNV	missense	NA	Probably damaging	GLS2	chr12:56868384	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L344fs	Indel	frameshift_variant	NA	Probably damaging	GLS2	chr12:56868648	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A343fs	Indel	frameshift_variant	NA	Probably damaging	GLS2	chr12:56868650	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M341fs	Indel	frameshift_variant	NA	Probably damaging	GLS2	chr12:56868652	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	GLS2	chr12:56874172	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W23X	SNV	stop_gained	NA	-	GLS2	chr12:56881835	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q68X	SNV	stop_gained	NA	-	RDH16	chr12:57351045	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G42R	SNV	missense	NA	Probably damaging	RDH16	chr12:57351123	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V430fs	Indel	frameshift_variant	NA	-	ZBTB39	chr12:57397412	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R137fs	Indel	frameshift_variant	NA	-	DDIT3	chr12:57910761	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SLC26A10	chr12:58014716	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G410R	SNV	missense	NA	Probably damaging	B4GALNT1	chr12:58021557	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E375A	SNV	missense	NA	Probably damaging	B4GALNT1	chr12:58021924	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L374Q	SNV	missense	NA	Probably damaging	B4GALNT1	chr12:58021927	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	B4GALNT1	chr12:58022047	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D312E	SNV	missense	NA	Probably damaging	B4GALNT1	chr12:58022562	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R139X	SNV	stop_gained	NA	-	CDK4	chr12:58144813	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y103N	SNV	missense	NA	Probably damaging	CDK4	chr12:58145037	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V20A	SNV	missense	NA	Probably damaging	CDK4	chr12:58145442	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N184fs	Indel	frameshift_variant	NA	-	LEMD3	chr12:65563924	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G489X	SNV	stop_gained	NA	-	LEMD3	chr12:65564841	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R625X	SNV	stop_gained	NA	-	LEMD3	chr12:65632546	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R626H	SNV	missense	NA	Probably damaging	LEMD3	chr12:65632550	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E812G	SNV	missense	NA	Probably damaging	LEMD3	chr12:65639496	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	Probably damaging	LEMD3	chr12:65639718	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q144P	SNV	missense	NA	Probably damaging	TMBIM4	chr12:66539654	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y39C	SNV	missense	NA	Probably damaging	TMBIM4	chr12:66547210	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	protein_protein_contact	NA	-	DYRK2	chr12:68051801	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N69del	Indel	disruptive_inframe_deletion	NA	-	IL22	chr12:68646587	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	IL22	chr12:68647105	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PTPRR	chr12:71056387	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	PTPRR	chr12:71077948	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	PTPRR	chr12:71094943	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L147X	SNV	stop_gained	NA	-	PTPRR	chr12:71158476	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V221fs	Indel	frameshift_variant	NA	-	ZFC3H1	chr12:72051016	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L220fs	Indel	frameshift_variant	NA	-	THAP2	chr12:72070858	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	RP11-81K13.1	chr12:75434923	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W117R	SNV	missense	NA	Probably damaging	GLIPR1L1	chr12:75737647	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R244X	SNV	stop_gained	NA	-	GLIPR1L2	chr12:75816829	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G221fs	Indel	frameshift_variant	NA	-	SYT1	chr12:79693180	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PAWR	chr12:79988108	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P91fs	Indel	frameshift_variant	NA	-	RASSF9	chr12:86199517	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N1186fs	Indel	frameshift_variant	NA	-	ATP2B1	chr12:89984866	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S851G	SNV	missense	NA	Probably damaging	ATP2B1	chr12:89998015	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A105T	SNV	missense	NA	Probably damaging	ATP2B1	chr12:90036028	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A195V	SNV	missense	NA	Probably damaging	DCN	chr12:91550920	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W15R	SNV	missense	NA	benign	DCN	chr12:91572287	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E29fs	Indel	frameshift_variant	NA	-	PLEKHG7	chr12:93134710	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PLEKHG7	chr12:93139253	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D99N	SNV	missense	NA	Probably damaging	PLEKHG7	chr12:93139347	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	PLEKHG7	chr12:93148041	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	PLEKHG7	chr12:93162857	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SOCS2	chr12:93966814	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	PLXNC1	chr12:94543744	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PLXNC1	chr12:94603364	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PLXNC1	chr12:94653111	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y1386X	SNV	stop_gained	NA	-	PLXNC1	chr12:94692491	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S150C	SNV	missense	NA	Probably damaging	ELK3	chr12:96640959	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P63L	SNV	missense	NA	Probably damaging	TMPO	chr12:98909833	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D68E	SNV	missense	NA	Possibly damaging	TMPO	chr12:98909849	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E489fs	Indel	frameshift_variant	NA	Possibly damaging	TMPO	chr12:98927498	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N692fs	Indel	frameshift_variant	NA	Possibly damaging	TMPO	chr12:98928107	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L326fs	Indel	frameshift_variant	NA	Possibly damaging	TMPO	chr12:98938824	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L67P	SNV	missense	NA	Probably damaging	SLC25A3	chr12:98989253	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L147X	SNV	stop_gained	NA	-	SLC25A3	chr12:98991791	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G213R	SNV	missense	NA	Probably damaging	SLC5A8	chr12:101587458	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G73D	SNV	missense	NA	Probably damaging	SLC5A8	chr12:101603409	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R97X	SNV	stop_gained	NA	-	ARL1	chr12:101794887	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S263fs	Indel	frameshift_variant	NA	-	C12orf42	chr12:103696182	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	C12orf42	chr12:103696338	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R110W	SNV	missense	NA	Probably damaging	NFYB	chr12:104517105	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E121G	SNV	missense	NA	Probably damaging	KIAA1033	chr12:105509002	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N209fs	Indel	frameshift_variant	NA	Probably damaging	KIAA1033	chr12:105514941	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R330X	SNV	stop_gained	NA	-	KIAA1033	chr12:105520090	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F805L	SNV	missense	NA	Probably damaging	KIAA1033	chr12:105540825	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	KIAA1033	chr12:105557887	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E559X	SNV	stop_gained	NA	-	NUAK1	chr12:106460891	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R177W	SNV	missense	NA	Probably damaging	NUAK1	chr12:106477692	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H176R	SNV	missense	NA	Probably damaging	NUAK1	chr12:106477694	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R101X	SNV	stop_gained	NA	-	NUAK1	chr12:106500243	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L276V	SNV	missense	NA	Possibly damaging	RFX4	chr12:107090190	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A456G	SNV	missense	NA	Probably damaging	RFX4	chr12:107114643	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	RAD9B	chr12:110940144	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter430RextX?	SNV	stop_lost	NA	-	RAD9B	chr12:110969432	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G287E	SNV	missense	NA	Probably damaging	ALDH2	chr12:112229929	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K383fs	Indel	frameshift_variant	NA	Probably damaging	ALDH2	chr12:112235941	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	TRAFD1	chr12:112572607	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R453X	SNV	stop_gained	NA	-	TRAFD1	chr12:112589682	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L62P	SNV	missense	NA	-	RITA1	chr12:113624664	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I52F	SNV	missense	NA	Probably damaging	IQCD	chr12:113645818	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G262fs	Indel	frameshift_variant	NA	-	LHX5	chr12:113905116	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R718Q	SNV	missense	NA	Probably damaging	KSR2	chr12:117962723	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R709W	SNV	missense	NA	Probably damaging	KSR2	chr12:117962751	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G372D	SNV	missense	NA	Probably damaging	WSB2	chr12:118472152	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G322R	SNV	missense	NA	Probably damaging	WSB2	chr12:118473050	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	PEBP1	chr12:118582480	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SUDS3	chr12:118841215	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SRRM4	chr12:119583491	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S25fs	Indel	frameshift_variant	NA	-	PRKAB1	chr12:120106122	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P280_V281insH	Indel	disruptive_inframe_insertion	NA	-	RPLP0	chr12:120634690	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P280fs	Indel	frameshift_variant	NA	-	RPLP0	chr12:120634692	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	COX6A1	chr12:120876033	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q662X	SNV	stop_gained	NA	-	HNF1A	chr12:121438990	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PSMD9	chr12:122353764	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	MLXIP	chr12:122625631	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	VPS33A	chr12:122717488	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	VPS33A	chr12:122745960	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T414S	SNV	missense	NA	Probably damaging	RSRC2	chr12:122990138	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K91del	Indel	disruptive_inframe_deletion	NA	-	VPS37B	chr12:123355445	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y42X	SNV	stop_gained	NA	-	RILPL2	chr12:123920842	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RILPL1	chr12:123983313	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q329X	SNV	stop_gained	NA	-	SCARB1	chr12:125292331	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T267I	SNV	missense	NA	Probably damaging	SCARB1	chr12:125294762	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P264fs	Indel	frameshift_variant	NA	Probably damaging	SCARB1	chr12:125294773	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H232R	SNV	missense	NA	Probably damaging	SCARB1	chr12:125296447	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q112X	SNV	stop_gained	NA	-	FZD10	chr12:130647821	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D1345V	SNV	missense	NA	Probably damaging	GOLGA3	chr12:133351836	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S983P	SNV	missense	NA	Probably damaging	GOLGA3	chr12:133363101	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q965X	SNV	stop_gained	NA	-	GOLGA3	chr12:133363292	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q710X	SNV	stop_gained	NA	-	GOLGA3	chr12:133372779	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R553fs	Indel	frameshift_variant	NA	-	ZNF605	chr12:133502324	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K169E	SNV	missense	NA	Probably damaging	ZDHHC20	chr13:21974601	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P120fs	Indel	frameshift_variant	NA	-	C1QTNF9B	chr13:24466070	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q91delinsHTer	Indel	stop_gained	NA	-	C1QTNF9B	chr13:24466157	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q91delinsHTer	Indel	stop_gained	NA	-	C1QTNF9	chr13:24895176	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R1107fs	Indel	frameshift_variant	NA	-	RNF17	chr13:25425704	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E17fs	Indel	frameshift_variant	NA	-	CDK8	chr13:26828825	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R112X	SNV	stop_gained	NA	-	MTIF3	chr13:28014252	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H808Y	SNV	missense	NA	-	MTUS2	chr13:29608208	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I376M	SNV	missense	NA	Probably damaging	KATNAL1	chr13:30801568	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	HSPH1	chr13:31712543	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W763X	SNV	stop_gained	NA	-	HSPH1	chr13:31712632	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F658C	SNV	missense	NA	Probably damaging	HSPH1	chr13:31714334	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L144fs	Indel	frameshift_variant	NA	-	N4BP2L1	chr13:32978374	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F79fs	Indel	frameshift_variant	NA	-	N4BP2L1	chr13:32981855	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L191R	SNV	missense	NA	Probably damaging	KL	chr13:33591150	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H193R	SNV	missense	NA	Probably damaging	KL	chr13:33591156	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F366I	SNV	missense	NA	Probably damaging	KL	chr13:33628180	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W458C	SNV	missense	NA	Probably damaging	KL	chr13:33629227	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G526R	SNV	missense	NA	Probably damaging	KL	chr13:33629429	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q722K	SNV	missense	NA	Probably damaging	KL	chr13:33635380	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P763T	SNV	missense	NA	Probably damaging	KL	chr13:33635503	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A898P	SNV	missense	NA	Probably damaging	KL	chr13:33635908	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	DCLK1	chr13:36699992	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R82X	SNV	stop_gained	NA	-	DCLK1	chr13:36700031	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	DCLK1	chr13:36700091	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L114F	SNV	missense	NA	Probably damaging	CSNK1A1L	chr13:37679054	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D279Y	SNV	missense	NA	Probably damaging	MRPS31	chr13:41323397	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q336fs	Indel	frameshift_variant	NA	-	KBTBD6	chr13:41705640	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R223Q	SNV	missense	NA	Probably damaging	TNFSF11	chr13:43180768	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q439P	SNV	missense	NA	Probably damaging	ENOX1	chr13:43872612	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	ENOX1	chr13:43900554	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P286L	SNV	missense	NA	-	LACC1	chr13:44458022	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C114X	SNV	stop_gained	NA	-	SIAH3	chr13:46357986	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L68S	SNV	missense	NA	Possibly damaging	MED4	chr13:48660578	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S375fs	Indel	frameshift_variant	NA	-	MLNR	chr13:49796393	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V190fs	Indel	frameshift_variant	NA	-	CDADC1	chr13:49841755	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G363V	SNV	missense	NA	Probably damaging	CDADC1	chr13:49852523	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L155F	SNV	missense	NA	Probably damaging	CAB39L	chr13:49924981	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G644E	SNV	missense	NA	Probably damaging	SETDB2	chr13:50062744	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R648C	SNV	missense	NA	Probably damaging	SETDB2	chr13:50062755	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	SETDB2	chr13:50064957	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter425QextX?	SNV	stop_lost	NA	-	SERPINE3	chr13:51936131	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R376L	SNV	missense	NA	Probably damaging	VPS36	chr13:52989999	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	MZT1	chr13:73301740	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R114X	SNV	stop_gained	NA	-	KLF5	chr13:73636077	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R440H	SNV	missense	NA	Probably damaging	KLF5	chr13:73649969	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S112del	Indel	disruptive_inframe_deletion	NA	-	KLF12	chr13:74420298	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RP11-29G8.3	chr13:76378424	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D187N	SNV	missense	NA	Probably damaging	NDFIP2	chr13:80107529	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S190Y	SNV	missense	NA	Probably damaging	SLITRK5	chr13:88328212	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E470X	SNV	stop_gained	NA	-	SLITRK5	chr13:88329051	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S677Y	SNV	missense	NA	Probably damaging	SLITRK5	chr13:88329673	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R691G	SNV	missense	NA	Probably damaging	SLITRK5	chr13:88329714	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R279X	SNV	stop_gained	NA	-	GPC5	chr13:92345950	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G508X	SNV	stop_gained	NA	-	GPC5	chr13:92797203	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W521X	SNV	stop_gained	NA	-	GPC5	chr13:93518536	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R188W	SNV	missense	NA	Probably damaging	HS6ST3	chr13:96743678	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	RAP2A	chr13:98086845	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W39X	SNV	stop_gained	NA	-	UBAC2	chr13:99853782	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R138C	SNV	missense	NA	Probably damaging	GPR183	chr13:99947988	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H237_H239dup	Indel	disruptive_inframe_insertion	NA	-	ZIC2	chr13:100635007	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L350R	SNV	missense	NA	Probably damaging	ZIC2	chr13:100635367	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A461_A464del	Indel	disruptive_inframe_deletion	NA	Probably damaging	ZIC2	chr13:100637714	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G104V	SNV	missense	NA	-	TEX30	chr13:103419816	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R207Q	SNV	missense	NA	-	BIVM	chr13:103473401	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	Probably damaging	ERCC5	chr13:103518716	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E960X	SNV	stop_gained	NA	-	ERCC5	chr13:103524747	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L1088X	SNV	stop_gained	NA	-	ERCC5	chr13:103527955	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L99P	SNV	missense	NA	Probably damaging	ABHD13	chr13:108881862	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S156T	SNV	missense	NA	Probably damaging	ABHD13	chr13:108882033	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	TEX29	chr13:111973238	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R190del	Indel	disruptive_inframe_deletion	NA	-	SPACA7	chr13:113088838	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C178fs	Indel	frameshift_variant	NA	-	ATP4B	chr13:114307212	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I135F	SNV	missense	NA	Probably damaging	OR4M1	chr14:20248884	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L153X	SNV	stop_gained	NA	-	OR4K5	chr14:20389223	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S7fs	Indel	frameshift_variant	NA	-	OR4K13	chr14:20502897	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F43fs	Indel	frameshift_variant	NA	-	OR4N5	chr14:20612019	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H254N	SNV	missense	NA	Probably damaging	OR11H4	chr14:20711710	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C134F	SNV	missense	NA	Probably damaging	TMEM55B	chr14:20928411	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E61fs	Indel	frameshift_variant	NA	Probably damaging	TMEM55B	chr14:20928987	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L168F	SNV	missense	NA	Probably damaging	OR6S1	chr14:21109349	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L15dup	Indel	disruptive_inframe_insertion	NA	-	RNASE4	chr14:21167573	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T16del	Indel	inframe_deletion	NA	-	RNASE4	chr14:21167575	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F36V	SNV	missense	NA	Probably damaging	RNASE4	chr14:21167636	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C67R	SNV	missense	NA	Probably damaging	RNASE4	chr14:21167729	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H40R	SNV	missense	NA	Probably damaging	RNASE1	chr14:21270109	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I430fs	Indel	frameshift_variant	NA	-	SUPT16H	chr14:21831609	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R19X	SNV	stop_gained	NA	-	TRAV6	chr14:22236790	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q57X	SNV	stop_gained	NA	-	TRAV8-1	chr14:22265886	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TRAV12-1	chr14:22309474	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TRAV13-1	chr14:22337092	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S49X	SNV	stop_gained	NA	-	TRAV13-1	chr14:22337355	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q101X	SNV	stop_gained	NA	-	TRAV12-2	chr14:22356643	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E74X	SNV	stop_gained	NA	-	TRAV34	chr14:22675908	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R92G	SNV	missense	NA	Probably damaging	DAD1	chr14:23044071	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R55C	SNV	missense	NA	Probably damaging	MRPL52	chr14:23302632	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y459C	SNV	missense	NA	-	AJUBA	chr14:23444094	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P424T	SNV	missense	NA	-	AJUBA	chr14:23444283	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E38D	SNV	missense	NA	Probably damaging	C14orf119	chr14:23566981	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E44fs	Indel	frameshift_variant	NA	-	THTPA	chr14:24026094	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	DHRS4	chr14:24422999	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	DHRS4	chr14:24423118	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N183K	SNV	missense	NA	Probably damaging	DHRS4	chr14:24435509	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G28R	SNV	missense	NA	-	EMC9	chr14:24610432	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A349fs	Indel	frameshift_variant	NA	-	TINF2	chr14:24709641	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	CIDEB	chr14:24777062	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A287V	SNV	missense	NA	Probably damaging	SDR39U1	chr14:24909311	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	SDR39U1	chr14:24909504	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G1264del	Indel	inframe_deletion	NA	-	BAZ1A	chr14:35231413	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S368X	SNV	stop_gained	NA	-	SRP54	chr14:35488227	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E149fs	Indel	frameshift_variant	NA	-	NKX2-8	chr14:37050380	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S110C	SNV	missense	NA	Probably damaging	NKX2-8	chr14:37050498	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L180H	SNV	missense	NA	-	GEMIN2	chr14:39594215	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L826fs	Indel	frameshift_variant	NA	-	RP11-407N17.3	chr14:39771407	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R51G	SNV	missense	NA	Probably damaging	LRFN5	chr14:42355979	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L125V	SNV	missense	NA	Probably damaging	LRFN5	chr14:42356201	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G526V	SNV	missense	NA	Probably damaging	LRFN5	chr14:42360644	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S343del	Indel	inframe_deletion	NA	-	FSCB	chr14:44975161	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H83dup	Indel	inframe_insertion	NA	-	C14orf28	chr14:45369883	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T237A	SNV	missense	NA	Probably damaging	PRPF39	chr14:45571871	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y63C	SNV	missense	NA	Probably damaging	FKBP3	chr14:45599924	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y352X	SNV	stop_gained	NA	-	POLE2	chr14:50121519	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F261fs	Indel	frameshift_variant	NA	-	POLE2	chr14:50122533	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R118X	SNV	stop_gained	NA	-	ATL1	chr14:51057728	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M479del	Indel	disruptive_inframe_deletion	NA	-	ATL1	chr14:51095063	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D228N	SNV	missense	NA	Probably damaging	FRMD6	chr14:52174919	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M359fs	Indel	frameshift_variant	NA	Probably damaging	FRMD6	chr14:52186822	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L819fs	Indel	frameshift_variant	NA	-	TXNDC16	chr14:52899041	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F482L	SNV	missense	NA	Probably damaging	DLGAP5	chr14:55636221	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q496X	SNV	stop_gained	NA	-	FBXO34	chr14:55818594	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L171fs	Indel	frameshift_variant	NA	-	ACTR10	chr14:58680407	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L125P	SNV	missense	NA	Probably damaging	PSMA3	chr14:58724686	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D551Y	SNV	missense	NA	Probably damaging	C14orf39	chr14:60903676	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y90H	SNV	missense	NA	Probably damaging	RHOJ	chr14:63747719	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y172C	SNV	missense	NA	Probably damaging	RHOJ	chr14:63757612	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A363S	SNV	missense	NA	Probably damaging	PPP2R5E	chr14:63851277	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L23fs	Indel	frameshift_variant	NA	-	ZBTB1	chr14:64988288	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H94del	Indel	inframe_deletion	NA	-	CHURC1	chr14:65392743	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PLEK2	chr14:67859568	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L84P	SNV	missense	NA	Probably damaging	PLEK2	chr14:67862257	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q557X	SNV	stop_gained	NA	-	HEATR4	chr14:73976067	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R158fs	Indel	frameshift_variant	NA	-	ACOT2	chr14:74036414	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K72fs	Indel	frameshift_variant	NA	-	ACOT6	chr14:74086132	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G113W	SNV	missense	NA	Probably damaging	PNMA1	chr14:74180006	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	RP5-1021I20.4	chr14:74388910	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	FCF1	chr14:75180254	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y117H	SNV	missense	NA	Probably damaging	FCF1	chr14:75190031	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	FCF1	chr14:75199432	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q52X	SNV	stop_gained	NA	-	DLST	chr14:75355839	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G47del	Indel	inframe_deletion	NA	-	ZC2HC1C	chr14:75537413	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L107fs	Indel	frameshift_variant	NA	-	ZC2HC1C	chr14:75537593	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	C14orf1	chr14:76123843	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A158_A164del	Indel	disruptive_inframe_deletion	NA	-	IRF2BPL	chr14:77493644	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A161_A163dup	Indel	disruptive_inframe_insertion	NA	-	IRF2BPL	chr14:77493647	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R285X	SNV	stop_gained	NA	-	VIPAS39	chr14:77904212	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R202C	SNV	missense	NA	-	VIPAS39	chr14:77910663	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D668Y	SNV	missense	NA	Probably damaging	STON2	chr14:81743653	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I631T	SNV	missense	NA	Probably damaging	STON2	chr14:81743763	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E484Q	SNV	missense	NA	Probably damaging	STON2	chr14:81744205	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R335W	SNV	missense	NA	Probably damaging	FLRT2	chr14:86088861	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y290H	SNV	missense	NA	Probably damaging	GPR65	chr14:88478059	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R148H	SNV	missense	NA	Probably damaging	KCNK13	chr14:90650563	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A45fs	Indel	frameshift_variant	NA	-	PSMC1	chr14:90726532	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C58R	SNV	missense	NA	Probably damaging	PSMC1	chr14:90729679	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G226C	SNV	missense	NA	Probably damaging	PSMC1	chr14:90731495	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V168F	SNV	missense	NA	Probably damaging	SLC24A4	chr14:92909080	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q299X	SNV	stop_gained	NA	-	SLC24A4	chr14:92920258	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P537L	SNV	missense	NA	Probably damaging	SLC24A4	chr14:92958081	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E229dup	Indel	disruptive_inframe_insertion	NA	-	CHGA	chr14:93397919	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	ITPK1	chr14:93408244	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E29X	SNV	stop_gained	NA	-	RP11-371E8.4	chr14:93652705	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R310C	SNV	missense	NA	Probably damaging	UBR7	chr14:93685675	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S97del	Indel	inframe_deletion	NA	-	IFI27L2	chr14:94594237	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C158X	SNV	stop_gained	NA	-	BDKRB1	chr14:96730493	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A39V	SNV	missense	NA	-	GSKIP	chr14:96848700	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T154M	SNV	missense	NA	Probably damaging	AK7	chr14:96875241	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H190R	SNV	missense	NA	Probably damaging	AK7	chr14:96887229	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A99fs	Indel	frameshift_variant	NA	-	C14orf177	chr14:99183526	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L150S	SNV	missense	NA	Probably damaging	CYP46A1	chr14:100172989	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	CYP46A1	chr14:100182494	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L361V	SNV	missense	NA	Probably damaging	CYP46A1	chr14:100188308	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E237X	SNV	stop_gained	NA	-	BEGAIN	chr14:101005379	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	DLK1	chr14:101195405	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C113S	SNV	missense	NA	Probably damaging	DLK1	chr14:101198453	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C212S	SNV	missense	NA	Probably damaging	DLK1	chr14:101200715	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E285X	SNV	stop_gained	NA	-	ZNF839	chr14:102792886	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y90X	SNV	stop_gained	NA	-	ANKRD9	chr14:102973957	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q12fs	Indel	frameshift_variant	NA	-	AMN	chr14:103389059	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	AMN	chr14:103395280	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W146X	SNV	stop_gained	NA	-	EXOC3L4	chr14:103570642	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	EXOC3L4	chr14:103574855	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R338X	SNV	stop_gained	NA	-	XRCC3	chr14:104165164	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q131X	SNV	stop_gained	NA	-	PLD4	chr14:105395171	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F293S	SNV	missense	NA	Probably damaging	BTBD6	chr14:105716429	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T304I	SNV	missense	NA	Probably damaging	BTBD6	chr14:105716462	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E664del	Indel	inframe_deletion	NA	-	MTA1	chr14:105936318	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CRIP1	chr14:105954806	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	C14orf80	chr14:105958596	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	HERC2P3	chr15:20588710	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D422H	SNV	missense	NA	Probably damaging	MTMR10	chr15:31240618	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	Probably damaging	MTMR10	chr15:31253097	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D99N	SNV	missense	NA	Probably damaging	MTMR10	chr15:31267170	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G71del	Indel	disruptive_inframe_deletion	NA	-	EMC7	chr15:34393826	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F158fs	Indel	frameshift_variant	NA	-	PGBD4	chr15:34395202	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R179C	SNV	missense	NA	Probably damaging	LPCAT4	chr15:34656451	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	ACTC1	chr15:35087008	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	C15orf41	chr15:36989522	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R18G	SNV	missense	NA	Probably damaging	SPRED1	chr15:38591593	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H91R	SNV	missense	NA	Probably damaging	SPRED1	chr15:38614506	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R403Q	SNV	missense	NA	Probably damaging	SPRED1	chr15:38643738	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T69I	SNV	missense	NA	Probably damaging	SRP14	chr15:40330487	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q285X	SNV	stop_gained	NA	-	KNSTRN	chr15:40685424	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P491fs	Indel	frameshift_variant	NA	-	BAHD1	chr15:40754147	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R629W	SNV	missense	NA	Probably damaging	BAHD1	chr15:40756129	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q493fs	Indel	frameshift_variant	NA	-	RPUSD2	chr15:40866299	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D508E	SNV	missense	NA	Probably damaging	RPUSD2	chr15:40866346	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R172del	Indel	disruptive_inframe_deletion	NA	-	ZFYVE19	chr15:41102109	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P244L	SNV	missense	NA	Probably damaging	ZFYVE19	chr15:41102860	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q364X	SNV	stop_gained	NA	-	TYRO3	chr15:41860543	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	TYRO3	chr15:41865876	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D44H	SNV	missense	NA	Probably damaging	LRRC57	chr15:42840397	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V155F	SNV	missense	NA	Probably damaging	CCNDBP1	chr15:43482557	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K366R	SNV	missense	NA	Probably damaging	PDIA3	chr15:44060755	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E493fs	Indel	frameshift_variant	NA	Probably damaging	PDIA3	chr15:44063374	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T152S	SNV	missense	NA	Probably damaging	CASC4	chr15:44620955	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S328X	SNV	stop_gained	NA	-	CASC4	chr15:44673085	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter52RextX?	SNV	stop_lost	NA	-	B2M	chr15:45007718	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R344X	SNV	stop_gained	NA	-	DUOXA1	chr15:45410229	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K88E	SNV	missense	NA	Probably damaging	DUOXA1	chr15:45413363	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SLC30A4	chr15:45779724	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K143I	SNV	missense	NA	-	BLOC1S6	chr15:45898606	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F332C	SNV	missense	NA	Probably damaging	SQRDL	chr15:45974806	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R99C	SNV	missense	NA	Probably damaging	MYEF2	chr15:48460903	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	DUT	chr15:48624451	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F204S	SNV	missense	NA	Probably damaging	DUT	chr15:48633540	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G71fs	Indel	frameshift_variant	NA	-	EID1	chr15:49170582	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F235del	Indel	disruptive_inframe_deletion	NA	-	CYP19A1	chr15:51510776	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y77C	SNV	missense	NA	Probably damaging	CYP19A1	chr15:51529122	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A475T	SNV	missense	NA	Probably damaging	GLDN	chr15:51696718	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D178G	SNV	missense	NA	Probably damaging	LYSMD2	chr15:52017059	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N99K	SNV	missense	NA	Probably damaging	LYSMD2	chr15:52017295	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E44K	SNV	missense	NA	Probably damaging	ARPP19	chr15:52849392	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R409C	SNV	missense	NA	Probably damaging	ONECUT1	chr15:53049925	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y14C	SNV	missense	NA	Probably damaging	RSL24D1	chr15:55489048	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L375fs	Indel	frameshift_variant	NA	-	CCPG1	chr15:55652846	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T64M	SNV	missense	NA	Probably damaging	GTF2A2	chr15:59934448	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A90T	SNV	missense	NA	Probably damaging	C2CD4A	chr15:62360080	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y326C	SNV	missense	NA	benign	CSNK1G1	chr15:64496662	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L594fs	Indel	frameshift_variant	NA	-	PIF1	chr15:65108859	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P348S	SNV	missense	NA	Probably damaging	PIF1	chr15:65113410	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W378fs	Indel	frameshift_variant	NA	-	PLEKHO2	chr15:65157745	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L110V	SNV	missense	NA	Probably damaging	SPG21	chr15:65267064	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	PARP16	chr15:65563411	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R477X	SNV	stop_gained	NA	-	VWA9	chr15:65871982	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T466fs	Indel	frameshift_variant	NA	-	VWA9	chr15:65874308	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N284fs	Indel	frameshift_variant	NA	-	VWA9	chr15:65890663	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E142fs	Indel	frameshift_variant	NA	-	SLC24A1	chr15:65916833	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K66E	SNV	missense	NA	Probably damaging	TIPIN	chr15:66644483	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G142R	SNV	missense	NA	-	SKOR1	chr15:68118590	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N241del	Indel	inframe_deletion	NA	-	SKOR1	chr15:68118885	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SKOR1	chr15:68123154	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M280T	SNV	missense	NA	Probably damaging	FEM1B	chr15:68582535	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	FEM1B	chr15:68582826	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H8fs	Indel	frameshift_variant	NA	-	ANP32A	chr15:69113065	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R7W	SNV	missense	NA	Probably damaging	GLCE	chr15:69548164	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R185Q	SNV	missense	NA	Probably damaging	GLCE	chr15:69548699	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R436C	SNV	missense	NA	Probably damaging	LARP6	chr15:71124561	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E309del	Indel	inframe_deletion	NA	Probably damaging	LARP6	chr15:71124939	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R143W	SNV	missense	NA	Probably damaging	LARP6	chr15:71125440	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K171fs	Indel	frameshift_variant	NA	-	THSD4	chr15:71535031	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y639X	SNV	stop_gained	NA	-	THSD4	chr15:72037455	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K146fs	Indel	frameshift_variant	NA	-	MYO9A	chr15:72338464	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y74C	SNV	missense	NA	Probably damaging	GRAMD2	chr15:72460879	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R130X	SNV	stop_gained	NA	-	CELF6	chr15:72597093	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	RP11-106M3.2	chr15:72668060	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y214fs	Indel	frameshift_variant	NA	-	TMEM202	chr15:72700048	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V849fs	Indel	frameshift_variant	NA	-	HCN4	chr15:73615888	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	HCN4	chr15:73617637	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	HCN4	chr15:73624471	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R393C	SNV	missense	NA	Probably damaging	NPTN	chr15:73854271	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I478fs	Indel	frameshift_variant	NA	-	CD276	chr15:74000726	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	CD276	chr15:74003512	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W276X	SNV	stop_gained	NA	-	SCAMP2	chr15:75137721	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D370Y	SNV	missense	NA	Probably damaging	C15orf39	chr15:75499497	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L376fs	Indel	frameshift_variant	NA	Probably damaging	C15orf39	chr15:75499515	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E974fs	Indel	frameshift_variant	NA	Probably damaging	C15orf39	chr15:75503231	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R90X	SNV	stop_gained	NA	-	NRG4	chr15:76248336	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A187E	SNV	missense	NA	Probably damaging	C15orf27	chr15:76463380	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E276X	SNV	stop_gained	NA	-	C15orf27	chr15:76484366	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	TSPAN3	chr15:77348129	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S63_E64insF	Indel	inframe_insertion	NA	-	HMG20A	chr15:77756680	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter43RextX?	SNV	stop_lost	NA	-	IDH3A	chr15:78449951	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L210P	SNV	missense	NA	Probably damaging	IDH3A	chr15:78455866	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A355T	SNV	missense	NA	Probably damaging	ACSBG1	chr15:78474319	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	WDR61	chr15:78584957	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D76fs	Indel	frameshift_variant	NA	-	HYKK	chr15:78805654	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G1441fs	Indel	frameshift_variant	NA	-	ADAMTS7	chr15:79056993	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W830X	SNV	stop_gained	NA	-	ADAMTS7	chr15:79063532	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W619fs	Indel	frameshift_variant	NA	-	ADAMTS7	chr15:79066986	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E389K	SNV	missense	NA	Probably damaging	ADAMTS7	chr15:79082044	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C15fs	Indel	frameshift_variant	NA	-	FAM154B	chr15:82555260	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E109fs	Indel	frameshift_variant	NA	-	HDGFRP3	chr15:83826301	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	EFTUD1P1	chr15:84784898	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	EFTUD1P1	chr15:84789841	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H151Y	SNV	missense	NA	Probably damaging	WDR73	chr15:85189481	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R321C	SNV	missense	NA	Probably damaging	ALPK3	chr15:85382261	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A692fs	Indel	frameshift_variant	NA	-	AGBL1	chr15:86823005	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P734L	SNV	missense	NA	Probably damaging	AGBL1	chr15:86838604	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N798H	SNV	missense	NA	Probably damaging	AGBL1	chr15:86940752	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P467H	SNV	missense	NA	Probably damaging	NTRK3	chr15:88576273	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G228fs	Indel	frameshift_variant	NA	-	MESP2	chr15:90320265	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y251X	SNV	stop_gained	NA	-	MESP2	chr15:90320341	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q110X	SNV	stop_gained	NA	-	GDPGP1	chr15:90784468	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G594R	SNV	missense	NA	Probably damaging	CRTC3	chr15:91185292	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E49G	SNV	missense	NA	Probably damaging	SV2B	chr15:91769639	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D164_L165dup	Indel	inframe_insertion	NA	-	SLCO3A1	chr15:92459530	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L141V	SNV	missense	NA	Probably damaging	FAM174B	chr15:93173499	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R1137X	SNV	stop_gained	NA	-	CHD2	chr15:93528899	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R224L	SNV	missense	NA	Probably damaging	ARRDC4	chr15:98512398	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V39fs	Indel	frameshift_variant	NA	-	FAM169B	chr15:99023895	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G1215X	SNV	stop_gained	NA	-	SYNM	chr15:99672211	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A113fs	Indel	frameshift_variant	NA	-	LYSMD4	chr15:100269885	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S615fs	Indel	frameshift_variant	NA	-	LINS	chr15:101109873	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P120S	SNV	missense	NA	Possibly damaging	ASB7	chr15:101169788	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G264E	SNV	missense	NA	Probably damaging	CHSY1	chr15:101775312	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R107fs	Indel	frameshift_variant	NA	Probably damaging	CHSY1	chr15:101791342	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I136T	SNV	missense	NA	Probably damaging	SNRPA1	chr15:101827165	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G243D	SNV	missense	NA	Probably damaging	TM2D3	chr15:102182698	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L66R	SNV	missense	NA	Probably damaging	OR4F6	chr15:102346119	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C189F	SNV	missense	NA	Probably damaging	OR4F6	chr15:102346488	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R241fs	Indel	frameshift_variant	NA	-	RGS11	chr16:321425	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G72V	SNV	missense	NA	Possibly damaging	RAB40C	chr16:668211	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K258X	SNV	stop_gained	NA	-	RAB40C	chr16:677548	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter227WextX?	SNV	stop_lost	NA	-	TMEM204	chr16:1605027	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S120C	SNV	missense	NA	Probably damaging	HN1L	chr16:1741924	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K154fs	Indel	frameshift_variant	NA	-	SPSB3	chr16:1828165	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P126Q	SNV	missense	NA	Probably damaging	NOXO1	chr16:2030407	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W33X	SNV	stop_gained	NA	-	SYNGR3	chr16:2042663	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S62X	SNV	stop_gained	NA	-	SYNGR3	chr16:2042749	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C245X	SNV	stop_gained	NA	-	DNASE1L2	chr16:2287911	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter156YextX?	SNV	stop_lost	NA	-	ATP6V0C	chr16:2569746	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P114T	SNV	missense	NA	Probably damaging	PRSS27	chr16:2764234	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	ZG16B	chr16:2881858	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q7X	SNV	stop_gained	NA	-	KREMEN2	chr16:3014540	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L189P	SNV	missense	NA	Probably damaging	PKMYT1	chr16:3025626	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H363L	SNV	missense	NA	Probably damaging	ZNF213	chr16:3191056	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H423R	SNV	missense	NA	Probably damaging	ZNF213	chr16:3191236	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	ZNF200	chr16:3282546	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M73fs	Indel	frameshift_variant	NA	-	ZNF200	chr16:3283537	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	Probably damaging	ZNF75A	chr16:3363077	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C166Y	SNV	missense	NA	Probably damaging	ZNF75A	chr16:3367475	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H183R	SNV	missense	NA	Probably damaging	ZNF75A	chr16:3367526	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H267Q	SNV	missense	NA	Probably damaging	ZNF75A	chr16:3367779	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S148dup	Indel	disruptive_inframe_insertion	NA	-	GLIS2	chr16:4384892	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CORO7	chr16:4412134	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y163X	SNV	stop_gained	NA	-	SEPT12	chr16:4833955	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P128L	SNV	missense	NA	Probably damaging	SEPT12	chr16:4834061	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L457P	SNV	missense	NA	Probably damaging	GLYR1	chr16:4861716	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V57fs	Indel	frameshift_variant	NA	-	DEXI	chr16:11035694	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	RMI2	chr16:11444570	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N128Y	SNV	missense	NA	-	RMI2	chr16:11444585	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E48del	Indel	inframe_deletion	NA	-	SNN	chr16:11770053	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T386K	SNV	missense	NA	Probably damaging	PARN	chr16:14676073	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L214F	SNV	missense	NA	Probably damaging	BFAR	chr16:14748926	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A345fs	Indel	frameshift_variant	NA	Probably damaging	BFAR	chr16:14758800	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q1122fs	Indel	frameshift_variant	NA	-	NOMO1	chr16:14982989	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C334fs	Indel	frameshift_variant	NA	-	NPIPA5	chr16:15457567	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q1143_A1144del	Indel	disruptive_inframe_deletion	NA	-	ABCC6	chr16:16256922	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E247del	Indel	inframe_deletion	NA	-	ABCC6	chr16:16302637	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	Indel	splice_donor_variant	NA	-	ABCC6P1	chr16:18586475	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E79X	SNV	stop_gained	NA	-	KNOP1	chr16:19726123	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V195A	SNV	missense	NA	Probably damaging	IQCK	chr16:19775413	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D295H	SNV	missense	NA	Probably damaging	GPRC5B	chr16:19883363	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A229D	SNV	missense	NA	Probably damaging	GPRC5B	chr16:19883560	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R33fs	Indel	frameshift_variant	NA	Probably damaging	GPRC5B	chr16:19884146	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q197K	SNV	missense	NA	Probably damaging	DCUN1D3	chr16:20871534	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E158X	SNV	stop_gained	NA	-	HS3ST4	chr16:25704210	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L238S	SNV	missense	NA	-	KDM8	chr16:27225006	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	KDM8	chr16:27225068	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G309E	SNV	missense	NA	-	KDM8	chr16:27227279	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q271del	Indel	disruptive_inframe_deletion	NA	-	NPIPB6	chr16:28354390	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N335fs	Indel	frameshift_variant	NA	-	EIF3CL	chr16:28403108	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I415N	SNV	missense	NA	Probably damaging	NFATC2IP	chr16:28975168	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	QPRT	chr16:29706200	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	QPRT	chr16:29706239	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	QPRT	chr16:29706443	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D222E	SNV	missense	NA	Probably damaging	QPRT	chr16:29708433	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P269L	SNV	missense	NA	Probably damaging	ASPHD1	chr16:29913098	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C324Y	SNV	missense	NA	Probably damaging	ASPHD1	chr16:29916194	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter99YextX?	SNV	stop_lost	NA	-	TMEM219	chr16:29982853	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R107C	SNV	missense	NA	Probably damaging	PPP4C	chr16:30094730	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R141C	SNV	missense	NA	Probably damaging	PPP4C	chr16:30094832	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H212fs	Indel	frameshift_variant	NA	-	SLX1A	chr16:30208343	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W47X	SNV	stop_gained	NA	-	DCTPP1	chr16:30440450	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q405X	SNV	stop_gained	NA	-	ZNF764	chr16:30566529	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W363X	SNV	stop_gained	NA	-	ZNF764	chr16:30566654	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W43X	SNV	stop_gained	NA	-	ZNF785	chr16:30596805	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E566fs	Indel	frameshift_variant	NA	-	FBXL19	chr16:30958057	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	TRIM72	chr16:31235645	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K331del	Indel	disruptive_inframe_deletion	NA	-	ITGAM	chr16:31286999	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	ITGAM	chr16:31287990	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C107F	SNV	missense	NA	-	ORC6	chr16:46726418	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F712fs	Indel	frameshift_variant	NA	-	MYLK3	chr16:46744681	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	NETO2	chr16:47143393	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G168R	SNV	missense	NA	Probably damaging	NETO2	chr16:47156803	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D189H	SNV	missense	NA	Probably damaging	AKTIP	chr16:53528288	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S85C	SNV	missense	NA	Probably damaging	IRX5	chr16:54966414	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R122G	SNV	missense	NA	Probably damaging	IRX5	chr16:54966524	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L186W	SNV	missense	NA	Probably damaging	LPCAT2	chr16:55563774	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q236X	SNV	stop_gained	NA	-	SLC6A2	chr16:55719116	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y271fs	Indel	frameshift_variant	NA	-	SLC6A2	chr16:55725854	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A312T	SNV	missense	NA	Probably damaging	SLC6A2	chr16:55727937	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S122X	SNV	stop_gained	NA	-	MT1E	chr16:56660714	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E70K	SNV	missense	NA	Probably damaging	FAM192A	chr16:57206706	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T93del	Indel	inframe_deletion	NA	-	ARL2BP	chr16:57283753	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q95fs	Indel	frameshift_variant	NA	-	ARL2BP	chr16:57283763	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E242del	Indel	inframe_deletion	NA	-	DOK4	chr16:57507824	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G188D	SNV	missense	NA	Probably damaging	DOK4	chr16:57508741	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q261X	SNV	stop_gained	NA	-	TEPP	chr16:58019398	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A128D	SNV	missense	NA	Probably damaging	CMTM3	chr16:66643417	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A40P	SNV	missense	NA	Probably damaging	CA7	chr16:66881010	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	CA7	chr16:66885441	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L253P	SNV	missense	NA	Probably damaging	CA7	chr16:66887364	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N283fs	Indel	frameshift_variant	NA	-	CDH16	chr16:66947448	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter176GextX?	SNV	stop_lost	NA	-	CDH16	chr16:66949203	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P172fs	Indel	frameshift_variant	NA	-	CBFB	chr16:67132629	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A29fs	Indel	frameshift_variant	NA	Probably damaging	FBXL8	chr16:67195773	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L137P	SNV	missense	NA	Probably damaging	FBXL8	chr16:67197008	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E72G	SNV	missense	NA	Probably damaging	E2F4	chr16:67226743	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P168S	SNV	missense	NA	Probably damaging	E2F4	chr16:67228351	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W119X	SNV	stop_gained	NA	-	E2F4	chr16:67228637	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W610X	SNV	stop_gained	NA	-	PLEKHG4	chr16:67318753	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y1092X	SNV	stop_gained	NA	-	PLEKHG4	chr16:67322125	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q160X	SNV	stop_gained	NA	-	ATP6V0D1	chr16:67478557	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L187fs	Indel	frameshift_variant	NA	-	LCAT	chr16:67976455	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E240V	SNV	missense	NA	Probably damaging	SLC7A6OS	chr16:68336364	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A22T	SNV	missense	NA	Probably damaging	SLC7A6OS	chr16:68344766	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S587X	SNV	stop_gained	NA	-	CDH3	chr16:68721604	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V637fs	Indel	frameshift_variant	NA	-	CDH3	chr16:68725735	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RP11-354M1.2	chr16:68849563	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R88T	SNV	missense	NA	Probably damaging	CYB5B	chr16:69481141	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S199fs	Indel	frameshift_variant	NA	-	NFAT5	chr16:69681266	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R320C	SNV	missense	NA	Probably damaging	NFAT5	chr16:69687284	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	NFAT5	chr16:69724842	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q1271_Q1273del	Indel	disruptive_inframe_deletion	NA	Probably damaging	NFAT5	chr16:69727529	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G160R	SNV	missense	NA	Probably damaging	NQO1	chr16:69746972	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	IL34	chr16:70690926	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K411fs	Indel	frameshift_variant	NA	-	CMTR2	chr16:71318587	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T196A	SNV	missense	NA	-	CMTR2	chr16:71319238	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T471I	SNV	missense	NA	Probably damaging	ZNF23	chr16:71482516	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R818Q	SNV	missense	NA	Probably damaging	AP1G1	chr16:71767046	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C183R	SNV	missense	NA	Probably damaging	AP1G1	chr16:71805146	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R347X	SNV	stop_gained	NA	-	ZNF821	chr16:71894121	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R159G	SNV	missense	NA	Probably damaging	DHODH	chr16:72050963	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K141fs	Indel	frameshift_variant	NA	-	TXNL4B	chr16:72120565	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R886X	SNV	stop_gained	NA	-	PMFBP1	chr16:72157497	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M855I	SNV	missense	NA	Probably damaging	PMFBP1	chr16:72158705	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q382X	SNV	stop_gained	NA	-	NPIPB15	chr16:74425790	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q354X	SNV	stop_gained	NA	-	TERF2IP	chr16:75690369	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F202S	SNV	missense	NA	Probably damaging	CLEC3A	chr16:78064722	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E31V	SNV	missense	NA	Probably damaging	MAF	chr16:79633708	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	CDYL2	chr16:80638445	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A287E	SNV	missense	NA	Probably damaging	CDYL2	chr16:80654810	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R108X	SNV	stop_gained	NA	-	CDYL2	chr16:80718729	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E136X	SNV	stop_gained	NA	-	ATMIN	chr16:81075030	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S438X	SNV	stop_gained	NA	-	ATMIN	chr16:81077416	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D582V	SNV	missense	NA	Probably damaging	ATMIN	chr16:81077848	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E154K	SNV	missense	NA	Probably damaging	GCSH	chr16:81116533	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D19H	SNV	missense	NA	Probably damaging	COTL1	chr16:84651466	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A203P	SNV	missense	NA	Probably damaging	FAM92B	chr16:85135864	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D196E	SNV	missense	NA	-	EMC8	chr16:85813359	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E104Q	SNV	missense	NA	Probably damaging	FOXF1	chr16:86544485	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q840X	SNV	stop_gained	NA	-	ZCCHC14	chr16:87445398	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V804fs	Indel	frameshift_variant	NA	-	ZCCHC14	chr16:87445504	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H130Q	SNV	missense	NA	Probably damaging	CA5A	chr16:87938461	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C155Y	SNV	missense	NA	Probably damaging	RNF166	chr16:88765455	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y150X	SNV	stop_gained	NA	-	PABPN1L	chr16:88931980	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	RPL13	chr16:89628147	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S136fs	Indel	frameshift_variant	NA	-	DPEP1	chr16:89702973	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P280fs	Indel	frameshift_variant	NA	-	RNMTL1	chr17:694880	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter421GextX?	SNV	stop_lost	NA	-	RNMTL1	chr17:695307	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S519L	SNV	missense	NA	Probably damaging	ABR	chr17:959280	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E249X	SNV	stop_gained	NA	-	PITPNA	chr17:1437416	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N176fs	Indel	frameshift_variant	NA	-	PITPNA	chr17:1438743	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K300del	Indel	disruptive_inframe_deletion	NA	-	RILP	chr17:1551171	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L792fs	Indel	frameshift_variant	NA	-	SMYD4	chr17:1684616	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A555P	SNV	missense	NA	Probably damaging	SMYD4	chr17:1690773	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W73X	SNV	stop_gained	NA	-	OVCA2	chr17:1945932	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q195fs	Indel	frameshift_variant	NA	-	OR3A2	chr17:3181646	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G282fs	Indel	frameshift_variant	NA	-	OR3A3	chr17:3324701	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R11X	SNV	stop_gained	NA	-	SPATA22	chr17:3372589	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	-	ASPA	chr17:3392609	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G42fs	Indel	frameshift_variant	NA	-	EMC6	chr17:3572558	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	-	SPNS2	chr17:4436270	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A459T	SNV	missense	NA	Probably damaging	SPNS2	chr17:4439401	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q488X	SNV	stop_gained	NA	-	SPNS2	chr17:4439576	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S75Y	SNV	missense	NA	Probably damaging	ARRB2	chr17:4619770	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.N41fs	Indel	frameshift_variant	NA	-	MED11	chr17:4635104	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	VMO1	chr17:4689645	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q398X	SNV	stop_gained	NA	-	CHRNE	chr17:4802520	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.H336Q	SNV	missense	NA	Probably damaging	CHRNE	chr17:4802787	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T297I	SNV	missense	NA	Probably damaging	CHRNE	chr17:4804115	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T297S	SNV	missense	NA	Probably damaging	CHRNE	chr17:4804116	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R146C	SNV	missense	NA	Probably damaging	SLC25A11	chr17:4842083	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P1019S	SNV	missense	NA	Probably damaging	CAMTA2	chr17:4873654	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q445fs	Indel	frameshift_variant	NA	Probably damaging	CAMTA2	chr17:4883350	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R154H	SNV	missense	NA	Probably damaging	CAMTA2	chr17:4885403	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E53fs	Indel	frameshift_variant	NA	-	ZFP3	chr17:4994951	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R622H	SNV	missense	NA	Possibly damaging	DHX33	chr17:5347784	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I525fs	Indel	frameshift_variant	NA	Possibly damaging	DHX33	chr17:5353678	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.C518Y	SNV	missense	NA	Probably damaging	DHX33	chr17:5353698	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L446P	SNV	missense	NA	Probably damaging	DHX33	chr17:5356959	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q341X	SNV	stop_gained	NA	-	DHX33	chr17:5359331	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	DERL2	chr17:5384615	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F97fs	Indel	frameshift_variant	NA	-	DERL2	chr17:5384651	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	DERL2	chr17:5389479	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G436A	SNV	missense	NA	Probably damaging	BCL6B	chr17:6930390	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W275R	SNV	missense	NA	Probably damaging	ASGR1	chr17:7077031	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Ter162GextX?	SNV	stop_lost	NA	Probably damaging	ASGR1	chr17:7077278	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G116S	SNV	missense	NA	Probably damaging	GABARAP	chr17:7144181	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y109S	SNV	missense	NA	Probably damaging	GABARAP	chr17:7144201	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	protein_protein_contact	NA	Probably damaging	GABARAP	chr17:7144208	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S15P	SNV	missense	NA	-	C17orf61-PLSCR3	chr17:7307361	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.W311X	SNV	stop_gained	NA	-	C17orf74	chr17:7330243	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A110fs	Indel	frameshift_variant	NA	-	TMEM102	chr17:7339623	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P143T	SNV	missense	NA	Probably damaging	CHRNB1	chr17:7350435	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P217L	SNV	missense	NA	Probably damaging	EIF4A1	chr17:7480687	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.G49fs	Indel	frameshift_variant	NA	-	MPDU1	chr17:7489089	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S453L	SNV	missense	NA	Probably damaging	FXR2	chr17:7496472	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K8del	Indel	disruptive_inframe_deletion	NA	-	ATP1B2	chr17:7554852	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y48C	SNV	missense	NA	Probably damaging	ATP1B2	chr17:7556722	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	ATP1B2	chr17:7557368	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q137X	SNV	stop_gained	NA	-	ATP1B2	chr17:7557432	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.D228Y	SNV	missense	NA	Probably damaging	WRAP53	chr17:7604098	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P63A	SNV	missense	NA	Probably damaging	EFNB3	chr17:7611340	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E149K	SNV	missense	NA	Probably damaging	EFNB3	chr17:7611782	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q175X	SNV	stop_gained	NA	-	KDM6B	chr17:7749784	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A1482G	SNV	missense	NA	Probably damaging	KDM6B	chr17:7755631	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E24V	SNV	missense	NA	Probably damaging	CYB5D1	chr17:7761523	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	Probably damaging	CYB5D1	chr17:7761526	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R136G	SNV	missense	NA	Probably damaging	CYB5D1	chr17:7762092	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R165P	SNV	missense	NA	Probably damaging	CYB5D1	chr17:7762737	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	KCNAB3	chr17:7828414	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1166R	SNV	missense	NA	Probably damaging	PER1	chr17:8045226	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_acceptor_variant	NA	Probably damaging	PER1	chr17:8050084	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E143del	Indel	disruptive_inframe_deletion	NA	-	C17orf59	chr17:8093030	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T561A	SNV	missense	NA	Probably damaging	ARHGEF15	chr17:8219443	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T35I	SNV	missense	NA	Probably damaging	MFSD6L	chr17:8702335	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K195Q	SNV	missense	NA	Probably damaging	NTN1	chr17:8926273	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q443H	SNV	missense	NA	Probably damaging	NTN1	chr17:9083245	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Y246H	SNV	missense	NA	Probably damaging	USP43	chr17:9570064	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.V398fs	Indel	frameshift_variant	NA	Probably damaging	USP43	chr17:9586218	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L999fs	Indel	frameshift_variant	NA	Probably damaging	USP43	chr17:9631925	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q140X	SNV	stop_gained	NA	-	GLP2R	chr17:9745847	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	GAS7	chr17:9821317	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E1514del	Indel	inframe_deletion	NA	-	MYH2	chr17:10428660	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.K1300X	SNV	stop_gained	NA	-	MYH2	chr17:10430347	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.I736fs	Indel	frameshift_variant	NA	-	MYH2	chr17:10436921	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R207T	SNV	missense	NA	Probably damaging	SCO1	chr17:10595224	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q18X	SNV	stop_gained	NA	-	SCO1	chr17:10600773	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.L4dup	Indel	inframe_insertion	NA	-	SCO1	chr17:10600812	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A168dup	Indel	disruptive_inframe_insertion	NA	-	HS3ST3B1	chr17:14205335	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q114fs	Indel	frameshift_variant	NA	-	TVP23C-CDRT4	chr17:15449218	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.M1?	SNV	start_lost	NA	-	TVP23C	chr17:15457044	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S410fs	Indel	frameshift_variant	NA	-	RP11-385D13.1	chr17:15532396	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.S104G	SNV	missense	NA	Probably damaging	RASD1	chr17:17398975	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.F150fs	Indel	frameshift_variant	NA	-	PEMT	chr17:17415838	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E9K	SNV	missense	NA	Probably damaging	LRRC48	chr17:17880937	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.A239T	SNV	missense	NA	Probably damaging	LRRC48	chr17:17898316	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P649L	SNV	missense	NA	Probably damaging	LLGL1	chr17:18141422	Tolerated
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R668P	SNV	missense	NA	Probably damaging	LLGL1	chr17:18141479	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P839S	SNV	missense	NA	Probably damaging	LLGL1	chr17:18144777	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.R934C	SNV	missense	NA	Probably damaging	LLGL1	chr17:18145231	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.Q261X	SNV	stop_gained	NA	-	ZNF286B	chr17:18566038	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.E101del	Indel	inframe_deletion	NA	-	TRIM16L	chr17:18631007	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.T431fs	Indel	frameshift_variant	NA	-	FBXW10	chr17:18659435	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	PRPSAP2	chr17:18793191	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	SLC47A1	chr17:19452991	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	-	SNV	splice_donor_variant	NA	-	FAM27L	chr17:21825576	-
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human All Exon v.2 Kit	Illumina GAII + Illumina HiSeq 2000 and HiSeq 2500	4877	6203	sporadic cases and controls	Sporadic	Swedish	p.P62L	SNV	missense	NA	benign	WSB1	chr17:25628958	Damaging
Genovese	2016	27694994	Agilent SureSelect Human All Exon Kit + Agilent SureSelect Human Al