Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OBSCN	84033	broad.mit.edu	37	1	228474636	228474636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:228474636G>A	uc009xez.1	+	34	9484	c.9440G>A	c.(9439-9441)gGc>gAc	p.G3147D	OBSCN_uc001hsn.3_Missense_Mutation_p.G3147D|OBSCN_uc001hsq.1_Missense_Mutation_p.G403D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3147	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCATGAGGGCCACCGGGCC	0.662000														16			7		0	0	1	0	0
ARF6	382	broad.mit.edu	37	14	50360612	50360612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:50360612C>T	uc021rsu.1	+	0	158	c.158C>T	c.(157-159)aCt>aTt	p.T53I	ARF6_uc001wxg.4_Missense_Mutation_p.T53I	NM_001663	NP_001654	P62330	ARF6_HUMAN	Homo sapiens ADP-ribosylation factor 6 (ARF6), mRNA.	53					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of Rac protein signal transduction|regulation of dendritic spine development|regulation of filopodium assembly|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|cell cortex|endosome membrane|filopodium membrane|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					GAGACGGTGACTTACAAAAAT	0.562000														36			18		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186166	95186166	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:95186166C>T	uc003ygh.2	-	6	767	c.642G>A	c.(640-642)aaG>aaA	p.K214K	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.K214K	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	214	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTCCCATGTCCTTCACTGAGA	0.448000														46			32		0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524129	73524129	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:73524129G>A	uc004ebs.4	+	0	105	c.28G>A	c.(28-30)Gga>Aga	p.G10R		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	10							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						CTTCGCGTGTGGACACTCTGG	0.637000														11			6		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635388	33635388	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:33635388G>A	uc001uus.3	+	3	2180	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	724	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTCAGAATGGGAAAATATCCA	0.463000														36			19		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750046	119750046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:119750046G>A	uc002tln.1	+	14	1378	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MARCO_uc010yyf.1_Missense_Mutation_p.E338K	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	416	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGAAAAAGGTGAAAGAGGTAA	0.433000														25			11		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33608316	33608316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:33608316C>T	uc021ywr.1	+	1	369	c.145C>T	c.(145-147)Cct>Tct	p.P49S		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	49					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGACAACCCCCCTAAGAAGTT	0.612000														151			51		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113717996	113717996	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:113717996C>T	uc001tux.3	+	15	1728	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	TPCN1_uc001tuw.3_Silent_p.F446F|TPCN1_uc010syt.1_Silent_p.F378F	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	446						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.F517F(1)|p.F446F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCAGTATTTCATGTGTAAGT	0.423000														19			9		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4451500	4451500	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:4451500A>C	uc002fxz.4	-	11	1724	c.1662T>G	c.(1660-1662)aaT>aaG	p.N554K	MYBBP1A_uc002fyb.4_Missense_Mutation_p.N554K	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	554	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGTGGCTGTGATTCAACAGGA	0.652000														59			23		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18436161	18436161	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:18436161C>T	uc003cbh.3	-	6	2734	c.999G>A	c.(997-999)gtG>gtA	p.V333V	SATB1_uc003cbi.3_Silent_p.V333V|SATB1_uc003cbj.3_Silent_p.V333V	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	333					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAAGTCTATTCACTGCATACT	0.488000														48			42		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188088	57188088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:57188088C>T	uc010kzo.3	-	4	1305	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R345I(2)|p.R345T(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTATGTCT	0.443000														36			5		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72863070	72863070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:72863070C>T	uc010wrl.2	-	2	322	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	FDXR_uc010wri.2_Intron|FDXR_uc010wrj.2_Intron|FDXR_uc002jlw.3_Intron|FDXR_uc002jlx.3_Intron|FDXR_uc002jly.3_Intron|FDXR_uc010wrk.2_Intron|FDXR_uc010wrm.2_Intron|FDXR_uc002jlz.3_Intron|FDXR_uc002jmb.3_Intron	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	59					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCTCCCCTTCCCCAGACAGA	0.637000														0			5		0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527594	16527594	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:16527594G>A	uc010cpi.2	-	5	698	c.606C>T	c.(604-606)ggC>ggT	p.G202G	ZNF624_uc021tre.1_Silent_p.G76G	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAAATCTAAAGCCTCTTTGAC	0.363000														50			25		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93815726	93815726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:93815726G>A	uc001pep.2	+	9	2016	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	620	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAATCCAACCGAATGCATGGT	0.353000														9			3		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196311248	196311248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:196311248C>T	uc001gtd.1	-	14	1574	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Missense_Mutation_p.G505E|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.G505E|KCNT2_uc001gth.1_Missense_Mutation_p.G26E	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	505	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAACTCTTTCCTTCATATTC	0.363000														23			16		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45384967	45384967	+	Silent	SNP	A	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:45384967A>G	uc002ilj.3	+	13	2285	c.2265A>G	c.(2263-2265)aaA>aaG	p.K755K	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	755					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.A754T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AATTCGCTAAATTTGAGGAAG	0.517000														32			19		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43405718	43405718	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:43405718C>T	uc003ouy.1	+	6	2137	c.1922C>T	c.(1921-1923)tCc>tTc	p.S641F	ABCC10_uc003ouz.1_Missense_Mutation_p.S613F|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	641	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L640L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGGAAGAGCTCCCTGCTGGCT	0.562000														7			6		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83402013	83402013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:83402013G>A	uc004eej.2	-	4	430	c.394C>T	c.(394-396)Cat>Tat	p.H132Y	RPS6KA6_uc011mqt.2_Missense_Mutation_p.H132Y|RPS6KA6_uc011mqu.2_Missense_Mutation_p.H29Y|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	132	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATAAATGGATGATTTACTTCC	0.274000														39			20		0	0	1	0	0
AF047486	0	broad.mit.edu	37	17	41020607	41020607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:41020607C>T	uc002ibx.3	+	1	235	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	AOC4_uc002ibw.1_3'UTR					Homo sapiens amine oxidase pseudogene mRNA, splice variant HLAO2.																		CCAGGGCCTCCCCCTGCGGCG	0.537000														23			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751383	140751383	+	Silent	SNP	C	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140751383C>G	uc003ljw.2	+	0	1422	c.1422C>G	c.(1420-1422)gtC>gtG	p.V474V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.V474V|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	476	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCGCATGTCAGAGCCTCGG	0.577000														180			4		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128490051	128490051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:128490051G>A	uc003vnz.4	+	30	5430	c.5221G>A	c.(5221-5223)Gag>Aag	p.E1741K	FLNC_uc003voa.4_Intron	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1741	Hinge 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTGCCGCACGAGGAGGAGCC	0.711000														10			3		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25976476	25976476	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:25976476G>A	uc002rgs.2	-	9	1290	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	ASXL2_uc002rgt.1_Nonsense_Mutation_p.R97*	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.R97*(1)|p.R357*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCTTGTCGAATTCTCACC	0.358000														53			45		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749320	22749320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:22749320G>A	uc003gqp.4	+	2	779	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.E231K	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	230					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTCTGGTTGGAACCAGCAGA	0.433000														116			57		0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166195	21166195	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:21166195G>A	uc003zom.2	-	0	465	c.417C>T	c.(415-417)tcC>tcT	p.S139S		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	139					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGCCAGGATGGAGTCCACAT	0.463000														100			93		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20825681	20825681	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:20825681G>A	uc002zsl.2	-	2	506	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	KLHL22_uc011ahr.2_Intron	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	117	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACATTGCTCAGGCTGAGCTCC	0.537000														43			13		0	0	1	0	0
C1orf226	400793	broad.mit.edu	37	1	162351853	162351853	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:162351853G>A	uc010pkt.1	+	1	299	c.291G>A	c.(289-291)ctG>ctA	p.L97L	C1orf226_uc001gby.2_Silent_p.L54L	NM_001135240	NP_001128712	A1L170	CA226_HUMAN	Homo sapiens chromosome 1 open reading frame 226 (C1orf226), transcript variant 1, mRNA.	54										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TCAAGAACCTGGGCAAAGCCA	0.632000														9			6		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130855736	130855736	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:130855736C>T	uc001uik.3	+	19	2608	c.2337C>T	c.(2335-2337)atC>atT	p.I779I	PIWIL1_uc001uij.2_Silent_p.I779I	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	779	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACTTTTTTATCGTGAGCCAGG	0.438000														90			36		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20845562	20845562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:20845562C>T	uc001vxe.3	-	40	6005	c.5965G>A	c.(5965-5967)Gat>Aat	p.D1989N	TEP1_uc010ahk.3_Missense_Mutation_p.D1332N|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.D1881N|TEP1_uc010tlh.1_Missense_Mutation_p.D327N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1989					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGGACCCATCTTCTGCACCA	0.597000														42			22		0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55593919	55593919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:55593919C>T	uc002qis.4	+	11	1267	c.1163C>T	c.(1162-1164)cCa>cTa	p.P388L	EPS8L1_uc010ess.1_Missense_Mutation_p.P370L|EPS8L1_uc010est.1_Missense_Mutation_p.P388L|EPS8L1_uc010yfr.2_Missense_Mutation_p.P324L|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.P261L|EPS8L1_uc002qiv.3_Missense_Mutation_p.P34L|EPS8L1_uc002qiw.3_Missense_Mutation_p.P135L	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	388						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AACGTCACTCCACGTGAAAAC	0.677000														3			4		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56345162	56345162	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:56345162G>A	uc001niz.1	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E11K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CTAAGAGAATGAATTCTGTCA	0.453000														55			21		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180338611	180338611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:180338611G>A	uc003mmp.3	+	2	904	c.670G>A	c.(670-672)Gga>Aga	p.G224R	BTNL8_uc003mmq.3_Missense_Mutation_p.G224R|BTNL8_uc010jll.3_Missense_Mutation_p.G224R|BTNL8_uc011dhg.2_Missense_Mutation_p.G99R|BTNL8_uc010jlm.3_Missense_Mutation_p.G108R|BTNL8_uc011dhh.2_Missense_Mutation_p.G40R	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	224						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTACAGATAGGAGGTGAGTA	0.547000														44			26		0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128811345	128811345	+	Missense_Mutation	SNP	T	C	C	rs60587538		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:128811345T>C	uc003ifo.3	+	6	2058	c.1784T>C	c.(1783-1785)gTt>gCt	p.V595A	PLK4_uc011cgs.2_Missense_Mutation_p.V563A|PLK4_uc011cgt.2_Missense_Mutation_p.V554A|U6_uc021xrr.1_5'Flank	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	595					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TCTCCGTTGGTTGCTCACAGG	0.388000														30			17		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32605261	32605261	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:32605261T>A	uc010ezu.3	+	2	682	c.548T>A	c.(547-549)aTt>aAt	p.I183N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	183					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAGGTAGATATTTCTAGTACA	0.313000														3			5		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38648282	38648282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:38648282G>A	uc021wvo.1	-	7	1070	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	SCN5A_uc021wvk.1_Missense_Mutation_p.R340W|SCN5A_uc021wvl.1_Missense_Mutation_p.R340W|SCN5A_uc021wvm.1_Missense_Mutation_p.R340W|SCN5A_uc021wvn.1_Missense_Mutation_p.R340W|SCN5A_uc021wvp.1_Missense_Mutation_p.R340W|SCN5A_uc021wvq.1_Missense_Mutation_p.R340W|SCN5A_uc021wvr.1_Missense_Mutation_p.R340W|SCN5A_uc021wvs.1_Missense_Mutation_p.R340W|SCN5A_uc021wvt.1_Missense_Mutation_p.R340W|SCN5A_uc021wvu.1_Missense_Mutation_p.R340W|SCN5A_uc021wvv.1_Missense_Mutation_p.R340W|SCN5A_uc021wvj.1_Missense_Mutation_p.R206W|SCN5A_uc021wvi.1_Missense_Mutation_p.R206W|SCN5A_uc021wvw.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	340					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTTAGGCACCGGTAGCCCTCC	0.602000														37			23		0	0	1	0	0
HV303425	0	broad.mit.edu	37	2	219029413	219029413	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:219029413G>A	uc021vwr.1	+	1		c.24_splice	c.e1+1		CXCR1_uc002vhc.3_Silent_p.F174F|CXCR1_uc021vwq.1_Silent_p.F174F					JP 2009535045-A/271: Short interfering ribonucleic acid (siRNA) for oral administration.																		AAGCCTGGCGGAAAAGGAAGA	0.517000														40			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235981	140235981	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140235981C>T	uc003lhx.2	+	0	348	c.348C>T	c.(346-348)ttC>ttT	p.F116F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.F116F|PCDHAC2_uc011dad.2_Silent_p.F116F	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	132	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGACG	0.547000														145			82		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63067088	63067088	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:63067088C>T	uc009yor.3	+	5	1265	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.L193L	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	353						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATCTGTATCCTGGTATTTTT	0.428000														22			11		0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76146731	76146731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:76146731C>T	uc002bbg.2	+	1	571	c.185C>T	c.(184-186)tCc>tTc	p.S62F	UBE2Q2_uc002bbh.2_Missense_Mutation_p.S62F|UBE2Q2_uc010umn.1_Missense_Mutation_p.S46F	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 (UBE2Q2), transcript variant 1, mRNA.	62					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AAACAGGAATCCTATCCATCT	0.378000														27			7		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883938	28883938	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:28883938C>T	uc002dri.3	+	9	2248	c.1809C>T	c.(1807-1809)caC>caT	p.H603H	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Silent_p.H293H|SH2B1_uc002drj.3_Silent_p.H603H|SH2B1_uc002drk.3_Silent_p.H603H|SH2B1_uc002drl.3_Silent_p.H603H|SH2B1_uc010vdd.2_Silent_p.H267H|SH2B1_uc010vde.2_Silent_p.H603H|SH2B1_uc002drm.3_Silent_p.H603H	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	603	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.E602V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGCTCGAGCACTTCCGGGTGC	0.607000														73			27		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806762	54806762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:54806762G>A	uc003pck.3	+	4	3109	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	998								p.R997Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGTTTCGAGGATTTATGCAA	0.348000														34			14		0	0	1	0	0
MRPS36	92259	broad.mit.edu	37	5	68513574	68513574	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:68513574G>A	uc003jvq.3	+	1	1	c.-83_splice	c.e1-1			NM_033281	NP_150597	P82909	RT36_HUMAN	Homo sapiens mitochondrial ribosomal protein S36 (MRPS36), nuclear gene encoding mitochondrial protein, mRNA.						translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		TGACGTCCCGGGAAGCACCGC	0.716000														18			10		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149821	34149821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:34149821G>A	uc004ddg.3	-	0	627	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	192	Pro-rich.							p.P192T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGGAGTCTCGGGAGGCTTCAG	0.612000														45			31		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103001445	103001445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:103001445G>A	uc002tbw.4	+	6	946	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	IL18R1_uc010ywd.2_Missense_Mutation_p.E111K|IL18R1_uc010fiy.3_Missense_Mutation_p.E266K|IL18R1_uc010ywc.2_Missense_Mutation_p.E266K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	266	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGAAGAGAAAGAAATGAGAAT	0.308000														30			19		0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	G	G	rs3874227	by1000genomes	TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:25161397C>G	uc001upm.3	+	7		c.921C>G			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAACATCTCTACAACTGGA	0.343000														34			3		0	0	1	0	0
SHISA2	387914	broad.mit.edu	37	13	26621161	26621161	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:26621161G>A	uc001uqm.1	-	1	463	c.378C>T	c.(376-378)gtC>gtT	p.V126V		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.	126					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TGATAAAGGCGACAAACACGG	0.542000														35			12		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20869165	20869165	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:20869165G>A	uc009yid.3	+	4	609	c.456G>A	c.(454-456)gaG>gaA	p.E152E	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Silent_p.E124E|NELL1_uc001mqf.3_Silent_p.E124E|NELL1_uc010rdo.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	124	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGAGGGATGAGATTCGGTATC	0.448000														33			9		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62041100	62041100	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:62041100G>A	uc002jds.1	-	9	1615	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	513					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CTCCCCTTGCGATGTGTCCAG	0.647000														10			6		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968870	5968870	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:5968870C>T	uc010qzt.2	+	0	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGCTTCCCTGCCTGCT	0.532000														143			64		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43437862	43437862	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr18:43437862G>A	uc002lbm.3	-	41	7498	c.7398C>T	c.(7396-7398)atC>atT	p.I2466I	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Silent_p.I1020I|EPG5_uc002lbn.2_Silent_p.I1341I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2466					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTGCCCCCAGGATCCCAGAGC	0.512000														69			27		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106877724	106877724	+	RNA	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:106877724G>A	uc021ser.1	-	409		c.13201C>T								Parts of antibodies, mostly variable regions.																		GACTCTTGAGGGACGGGTTGT	0.552000														154			55		0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045384	76045385	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:76045384_76045385GG>AA	uc001xrs.2	+	0	445_446	c.69_70GG>AA	c.(67-72)gcggac>gcAAac	p.D24N		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	24					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CACTCCAAGCGGACCCCAGCGT	0.629000														92			33		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525211	112525211	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:112525211C>T	uc001ebu.1	-	1	618	c.138G>A	c.(136-138)gtG>gtA	p.V46V	KCND3_uc001ebv.1_Silent_p.V46V	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	46						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCCGCCCACTCACGTTGAGGA	0.652000														14			22		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321932	55321932	+	Silent	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:55321932T>C	uc010rig.2	+	0	150	c.150T>C	c.(148-150)ttT>ttC	p.F50F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTTCATCTTTTCCTTGGGAA	0.363000										HNSCC(20;0.049)				92			38		0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960717	7960717	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:7960717C>T	uc010rbi.2	-	0	351	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATAAGCCATCGCTCCCAGGA	0.398000														87			31		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93175731	93175731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:93175731C>T	uc001tck.3	-	22	3596	c.3331G>A	c.(3331-3333)Gaa>Aaa	p.E1111K		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	1111	Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AATACCTTTTCTTTCTGAATG	0.398000														60			19		0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6196713	6196713	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:6196713A>G	uc011jwo.1	+	15	4093	c.3970A>G	c.(3970-3972)Aga>Gga	p.R1324G	USP42_uc011jwp.2_Intron|USP42_uc011jwq.2_Intron	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	1324					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GGAATTAGGAAGATAGAAACT	0.418000														6			3		0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74481511	74481511	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:74481511G>A	uc002axj.3	-	11	1512	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	STRA6_uc002axi.3_Silent_p.S154S|STRA6_uc010ulh.2_Silent_p.S383S|STRA6_uc002axk.3_Silent_p.S345S|STRA6_uc002axl.3_Silent_p.S277S|STRA6_uc010bji.3_Silent_p.S345S|STRA6_uc021sqg.1_Silent_p.S360S|STRA6_uc002axm.3_Silent_p.S345S|STRA6_uc002axn.3_Silent_p.S336S|STRA6_uc010uli.2_Silent_p.S382S|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	345					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GCTTGTCCTCGGAGAGCACGA	0.622000														20			13		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505092	70505092	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:70505092C>G	uc011caq.2	-	2	986	c.870G>C	c.(868-870)aaG>aaC	p.K290N	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.K89N|UGT2A1_uc021xox.1_Missense_Mutation_p.K89N|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	80					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTATATTGCTCTTCTTGTAGG	0.388000														69			29		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	111654	111654	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:111654C>G	uc002cfl.4	-	8	1392	c.1249G>C	c.(1249-1251)Gtc>Ctc	p.V417L	RHBDF1_uc010uty.2_Missense_Mutation_p.V440L|RHBDF1_uc010utz.2_Missense_Mutation_p.V417L|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	417					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGGATGGTGACGAGCGAGTGC	0.682000														52			22		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793414	65793414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:65793414C>T	uc001ogt.3	-	0	575	c.437G>A	c.(436-438)gGg>gAg	p.G146E		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	146	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATGGTGAGACCCCCTATGGTA	0.557000														31			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208718	140208718	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140208718C>T	uc003lho.2	+	0	1069	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.P348S|PCDHAC2_uc011dab.2_Missense_Mutation_p.P348S	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	363	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATAACGTCCCTGAGATAGC	0.468000														70			40		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655480	142655480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:142655480C>T	uc003wcb.3	-	4	646	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	146					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAGGCTTTCTCCTCCCCAGAG	0.478000														45			13		0	0	1	0	0
CLDND1	56650	broad.mit.edu	37	3	98240107	98240107	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:98240107G>A	uc003dst.3	-	2	442	c.231C>T	c.(229-231)ttC>ttT	p.F77F	CLDND1_uc003dso.2_Silent_p.F54F|CLDND1_uc003dsp.3_Silent_p.F54F|CLDND1_uc003dsq.3_Silent_p.F54F|CLDND1_uc003dss.3_Silent_p.F54F|CLDND1_uc003dsr.3_Intron|CLDND1_uc003dsu.3_Silent_p.F54F|CLDND1_uc003dsv.3_Silent_p.F54F	NM_001040182	NP_063948	Q9NY35	CLDN1_HUMAN	Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 4, mRNA.	54						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						CATCACTAATGAATTCATCCC	0.403000														44			14		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073874	135073874	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:135073874G>A	uc004cbh.2	+	2	1511	c.735G>A	c.(733-735)gaG>gaA	p.E245E		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	245	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCTCAAGGAGTTCTTCACCC	0.647000														96			7		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62257208	62257209	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:62257208_62257209GG>AA	uc003dlb.3	+	20	3879_3880	c.3160_3161GG>AA	c.(3160-3162)ggc>AAc	p.G1054N	PTPRG_uc003dlc.3_Missense_Mutation_p.G1025N|PTPRG_uc011bfi.2_Missense_Mutation_p.G300N|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	1054	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCCAGAAACGGGCCCTGTGTTG	0.530000														33			19		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692374	135692374	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:135692374G>A	uc003lbn.2	-	1	924	c.702C>T	c.(700-702)tcC>tcT	p.S234S	TRPC7_uc010jef.2_Silent_p.S225S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.S234S|TRPC7_uc010jei.2_Silent_p.S234S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	234					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTCTTCGCTGGACAGGGACA	0.552000														30			10		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228155544	228155544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:228155544G>A	uc002vom.2	+	36	3314	c.3152G>A	c.(3151-3153)gGa>gAa	p.G1051E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1051	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTCTCCAGGGAGATAAGGGA	0.493000														19			10		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153175055	153175055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:153175055G>A	uc011dcy.2	+	13	2347	c.2320G>A	c.(2320-2322)Gtt>Att	p.V774I	GRIA1_uc003lva.4_Missense_Mutation_p.V764I|GRIA1_uc003luy.4_Intron|GRIA1_uc003luz.4_Missense_Mutation_p.V669I|GRIA1_uc011dcv.2_Intron|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Intron|GRIA1_uc011dcz.2_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	764					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.L773S(1)|p.D774E(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAACCTAGCGGTTTTGAAACT	0.418000														31			14		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869140	22869140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:22869140G>A	uc002zwe.3	-	1	1068	c.815C>T	c.(814-816)cCc>cTc	p.P272L	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.P272L	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAACACGATGGGATTTTCTTT	0.443000														71			36		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202662	39202662	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:39202662C>T	uc003jls.3	-	0	468	c.401G>A	c.(400-402)gGa>gAa	p.G134E	FYB_uc003jlt.3_Missense_Mutation_p.G134E|FYB_uc003jlu.3_Missense_Mutation_p.G134E|FYB_uc011cpl.2_Missense_Mutation_p.G144E	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	134					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCTTGTTTCCAGGAGGCCA	0.498000														70			40		0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997067	173997067	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:173997067C>T	uc021xhm.1	+	5	1716	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	NLGN1_uc003fio.1_Missense_Mutation_p.P426S|NLGN1_uc010hww.1_Missense_Mutation_p.P466S|NLGN1_uc003fip.1_Missense_Mutation_p.P426S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	443					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATATGGATATCCTGAAGGCAA	0.338000														50			21		0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173376543	173376543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:173376543C>T	uc003mcs.4	+	5	2895	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	CPEB4_uc010jju.2_Missense_Mutation_p.P472S|CPEB4_uc010jjv.3_Missense_Mutation_p.P480S|CPEB4_uc011dfg.2_Missense_Mutation_p.P472S|CPEB4_uc003mcu.4_Missense_Mutation_p.P90S|CPEB4_uc021yhy.1_Missense_Mutation_p.P63S	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	497	RRM 1.						RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCGCTTTGGCCCTCTGATTGT	0.308000														26			10		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37899506	37899506	+	Silent	SNP	C	T	T	rs149753893		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:37899506C>T	uc002hsr.3	+	4	812	c.537C>T	c.(535-537)ttC>ttT	p.F179F	GRB7_uc002hss.3_Silent_p.F179F|GRB7_uc021twu.1_Silent_p.F202F|GRB7_uc010cwc.3_Silent_p.F179F|GRB7_uc002hst.3_Silent_p.F179F	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	179	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATAGCCGCTTCGTCTTCCGGA	0.612000														61			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736132	140736132	+	Silent	SNP	T	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140736132T>A	uc003ljq.2	+	0	1365	c.1365T>A	c.(1363-1365)gcT>gcA	p.A455A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.A455A	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	457	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTCATGCTTCCTACTCTG	0.478000														95			29		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17700783	17700783	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:17700783C>T	uc002grm.3	+	2	4990	c.4521C>T	c.(4519-4521)gcC>gcT	p.A1507A	RAI1_uc002grn.1_Silent_p.A1507A	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1507						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGGCCTGGCCTCCCAGCCCC	0.642000														45			23		0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54481899	54481899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:54481899G>A	uc004dtg.3	-	11	2731	c.1997C>T	c.(1996-1998)tCc>tTc	p.S666F	FGD1_uc011moi.1_Missense_Mutation_p.S424F	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	666	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.R665L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAGCTCGAGGGAGCGCTGCTT	0.552000														30			4		0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13642770	13642770	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:13642770A>C	uc003nbb.3	-	6	1225	c.1166T>G	c.(1165-1167)tTt>tGt	p.F389C	RANBP9_uc003nba.3_Missense_Mutation_p.F48C	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	389	LisH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AGATCTGGCAAAGGCCTCTGC	0.378000														38			16		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688675	81688675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:81688675C>T	uc001szo.2	-	23	3025	c.2864G>A	c.(2863-2865)cGa>cAa	p.R955Q	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.R881Q|PPFIA2_uc021rbh.1_Missense_Mutation_p.R856Q|PPFIA2_uc021rbi.1_Missense_Mutation_p.R955Q|PPFIA2_uc021rbj.1_Missense_Mutation_p.R955Q|PPFIA2_uc021rbk.1_Missense_Mutation_p.R940Q|PPFIA2_uc021rbl.1_Missense_Mutation_p.R955Q|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.R522Q|PPFIA2_uc021rbf.1_Missense_Mutation_p.R172Q	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	881										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GATTGCTAATCGAAGTTTTAA	0.483000														20			11		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192424	132192424	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:132192424C>T	uc003vra.4	-	1	1258	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	PLXNA4_uc003vrc.2_Silent_p.Q343Q|PLXNA4_uc003vrb.3_Silent_p.Q343Q	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	343	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTTTCCGCTTCTGGCCCTTGG	0.557000														51			27		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182207	140182207	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140182207C>T	uc003lhf.2	+	0	1425	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F475F	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	489	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACATCTTCACGGTGTCTG	0.667000														213			5		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174606561	174606561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:174606561C>T	uc001gjx.3	+	13	2036	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S		NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	587	Rab-GAP TBC.				regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TCGTACATTTCCCGCACATGA	0.358000														70			25		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15818851	15818851	+	Splice_Site	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:15818851T>C	uc002ddx.3	-	30	3987	c.3880_splice	c.e30-1	p.N1294_splice	MYH11_uc002ddv.3_Splice_Site_p.N1294_splice|MYH11_uc002ddw.3_Splice_Site_p.N1287_splice|MYH11_uc002ddy.3_Splice_Site_p.N1287_splice|MYH11_uc010bvg.3_Splice_Site_p.N1119_splice|NDE1_uc010uzy.2_3'UTR|NDE1_uc002dds.3_3'UTR|MYH11_uc010bvh.3_5'UTR|NDE1_uc002ddz.1_Non-coding_Transcript	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1287					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AACTTCATTCTAAGGGTGCCA	0.527000			T	CBFB	AML									19			5		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61309074	61309074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr18:61309074C>T	uc002ljf.3	-	3	357	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SERPINB3_uc002lje.3_Missense_Mutation_p.E91K|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	91					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTGTTGAATTCAGTCAGAAGC	0.383000														81			51		0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722946	64722946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:64722946G>A	uc010nko.3	+	4	2435	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	779							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATGATCCCAGAACACCAGTA	0.493000														69			30		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892285	9892285	+	Silent	SNP	A	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:9892285A>G	uc003gmc.3	-	8	1225	c.1164T>C	c.(1162-1164)ttT>ttC	p.F388F	SLC2A9_uc003gmd.3_Silent_p.F359F	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	388					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCATGAGCCCAAAGCCACCAA	0.517000														32			12		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					52			12		0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57955475	57955475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:57955475C>T	uc002ixw.2	-	4	1046	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	TUBD1_uc010wok.2_Missense_Mutation_p.R253Q|TUBD1_uc010ddf.2_Missense_Mutation_p.R253Q|TUBD1_uc010wol.2_Missense_Mutation_p.R37Q|TUBD1_uc010ddg.2_Missense_Mutation_p.R218Q|TUBD1_uc010ddi.2_Intron|TUBD1_uc010ddh.2_Missense_Mutation_p.R134Q|TUBD1_uc002ixx.2_Missense_Mutation_p.R253Q	NM_016261	NP_001180542	Q9UJT1	TBD_HUMAN	Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA.	253					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TAGTGGATTTCGTCTGTAGTG	0.408000														46			11		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173486701	173486701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:173486701G>A	uc001giz.2	-	22	3305	c.2882C>T	c.(2881-2883)aCc>aTc	p.T961I	SLC9C2_uc009wwe.2_Missense_Mutation_p.T519I	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	961					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACAGATGACGGTATATTCAAT	0.358000														46			29		0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138439057	138439057	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:138439057G>A	uc004cgc.3	+	2	282	c.240G>A	c.(238-240)ctG>ctA	p.L80L	OBP2A_uc004cgb.3_Silent_p.L80L|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Missense_Mutation_p.D36N			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	80					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		AGAAAATCCTGATGCGGAAGA	0.642000														38			17		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325189	158325189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:158325189G>A	uc001fse.3	+	2	748	c.455G>A	c.(454-456)gGa>gAa	p.G152E	CD1E_uc010pid.2_Missense_Mutation_p.G150E|CD1E_uc010pie.2_Missense_Mutation_p.G53E|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.G152E|CD1E_uc001fsf.3_Missense_Mutation_p.G152E|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.G53E|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.G152E|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	152					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGTTTCCAAGGAATTTCCTGG	0.458000														82			23		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35733382	35733382	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:35733382G>A	uc021rid.1	+	21	3608	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	NBEA_uc021ric.1_Missense_Mutation_p.R1025Q|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1025						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACAGATACTCGAGACTTACTC	0.413000														50			21		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118481	165118481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:165118481C>T	uc011cjk.2	-	0	383	c.383G>A	c.(382-384)gGa>gAa	p.G128E	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	128								p.G128E(2)|p.G128*(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CACGTTTTCTCCGTAGTCGTT	0.458000														118			41		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193132383	193132383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:193132383G>A	uc003ftd.3	-	25	3107	c.2999C>T	c.(2998-3000)tCc>tTc	p.S1000F	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1000					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TATCTCCACGGAATACCAAGG	0.463000														29			12		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66215174	66215174	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:66215174G>A	uc002apm.2	-	13	1950	c.1809C>T	c.(1807-1809)ccC>ccT	p.P603P	MEGF11_uc002apl.2_Silent_p.P528P|MEGF11_uc002apn.1_Silent_p.P603P	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	603	EGF-like 10.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TCTGGCATAAGGGTCCTCGGA	0.607000														16			3		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124533000	124533001	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:124533000_124533001CC>TT	uc004bln.3	+	10	2060_2061	c.1991_1992CC>TT	c.(1990-1992)tcc>tTT	p.S664F	DAB2IP_uc004blo.3_Missense_Mutation_p.S568F|DAB2IP_uc004blp.3_Missense_Mutation_p.S119F	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	692					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AACGATCTTTCCGGGTAAGAGC	0.579000														15			13		0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64089270	64089270	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:64089270T>C	uc010ooz.2	+	0	384	c.139T>C	c.(139-141)Ttt>Ctt	p.F47L	PGM1_uc001dbh.3_Intron|PGM1_uc010ooy.2_Intron	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	29					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AACCTATTATTTTGAGGAAAA	0.428000														34			19		0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197168858	197168858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:197168858G>A	uc001gtx.1	-	0	815	c.746C>T	c.(745-747)tCc>tTc	p.S249F	ZBTB41_uc009wyz.1_Non-coding_Transcript|CRB1_uc010poz.2_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTTCTTGCGGAGAAACTTCT	0.378000														19			15		0	0	1	0	0
FAM107A	11170	broad.mit.edu	37	3	58552978	58552978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:58552978G>A	uc003dko.3	-	3	993	c.377C>T	c.(376-378)cCc>cTc	p.P126L	FAM107A_uc003dkm.3_Missense_Mutation_p.P95L|FAM107A_uc003dkn.3_Missense_Mutation_p.P95L|FAM107A_uc010hnm.3_Missense_Mutation_p.P123L|FAM107A_uc003dkp.1_Missense_Mutation_p.P95L	NM_007177	NP_009108	O95990	F107A_HUMAN	Homo sapiens family with sequence similarity 107, member A (FAM107A), transcript variant 1, mRNA.	95					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGCTCAAAGGGGCACTGCAG	0.637000														28			15		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739353	38739353	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:38739353G>A	uc003ciq.3	-	26	5358	c.5358C>T	c.(5356-5358)atC>atT	p.I1786I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1786					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGTCCATCTGGATCAGTATAT	0.478000														39			27		0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14896213	14896213	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr10:14896213T>G	uc001inf.3	+	8	965	c.824T>G	c.(823-825)tTg>tGg	p.L275W		NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	275					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TTGTCAACCTTGGGAAGTGCC	0.348000														67			30		0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108064742	108064742	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:108064742G>A	uc001pjz.4	-	2	261	c.159C>T	c.(157-159)tcC>tcT	p.S53S		NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	53	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTCCAAATAAGGACTGAAAAG	0.264000														12			3		0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664134	124664134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:124664134C>T	uc003yqs.1	-	0	1057	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	345										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGACTCCTCCCTGAGCTGACA	0.587000														56			51		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383101	152383101	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:152383101G>A	uc001ezx.2	-	2	531	c.457C>T	c.(457-459)Cag>Tag	p.Q153*		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	153	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGGTCTGAACCCCAGGC	0.602000														203			77		0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220494	1220494	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:1220494G>T	uc002lrl.1	+	3	1702	c.587G>T	c.(586-588)gGc>gTc	p.G196V		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	196	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(3)|p.G196V(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGACCTGGGCGTGGCCGAG	0.687000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				7			4		0.014758	0.0148185	1	1	0
INMT	11185	broad.mit.edu	37	7	30793497	30793497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:30793497C>T	uc003tbs.1	+	1	321	c.305C>T	c.(304-306)cCg>cTg	p.P102L	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.P101L	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	102						cytoplasm	amine N-methyltransferase activity	p.P102P(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						AAGAAGGAGCCGGGGGCCTAT	0.572000														138			52		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1115635	1115635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:1115635C>T	uc001acy.2	+	5	572	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.L141F|TTLL10_uc001acz.2_Missense_Mutation_p.L68F	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	141					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGGAGGGGCTCCTGCTGGG	0.692000														3			6		0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849380	57849380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:57849380G>A	uc001snw.3	+	0	285	c.61G>A	c.(61-63)Ggg>Agg	p.G21R		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	21					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GCGAGCACAGGGGACAGGGTC	0.632000														29			7		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9459602	9459602	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr20:9459602C>T	uc021wam.1	+	35	3546	c.3531C>T	c.(3529-3531)agC>agT	p.S1177S	PLCB4_uc010gbx.3_Missense_Mutation_p.A1177V|PLCB4_uc021wal.1_Missense_Mutation_p.A1165V|PLCB4_uc002wnh.3_Missense_Mutation_p.A1012V	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S1177I(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAATTGGAAGCCGAGATGGAC	0.448000														25			11		0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76355048	76355048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:76355048G>A	uc001dhd.2	+	15	2335	c.2220G>A	c.(2218-2220)atG>atA	p.M740I		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	740					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGAAAGAAATGAAAGAGGTAC	0.269000								Mismatch excision repair (MMR)						23			17		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859772	46859773	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:46859772_46859773GG>AA	uc003bhw.1	-	1	4014_4015	c.4014_4015CC>TT	c.(4012-4017)ttccgg>ttTTgg	p.R1339W		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1339	EGF-like 1; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGATGGGCCGGAAGAGCACGG	0.658000														17			8		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21713345	21713345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:21713345C>T	uc001rfb.3	-	7	1399	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	382					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.G382E(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACTGCTTGTCCTTTCAGGGTT	0.368000														66			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071650	9071650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:9071650C>T	uc002mkp.3	-	2	16000	c.15796G>A	c.(15796-15798)Gaa>Aaa	p.E5266K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5268	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCGTCATTTCTGCAGATTTT	0.512000														34			27		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457906	6457906	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:6457906G>A	uc001qnw.3	-	10	2057	c.1793C>T	c.(1792-1794)tCt>tTt	p.S598F	SCNN1A_uc001qnv.3_Missense_Mutation_p.S239F|SCNN1A_uc001qnx.3_Missense_Mutation_p.S539F|SCNN1A_uc010sfb.2_Missense_Mutation_p.S562F	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	539					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GACAGAGGGAGACTCAGAATT	0.522000														81			32		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58298922	58298922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:58298922C>T	uc001vhq.1	+	3	3866	c.2974C>T	c.(2974-2976)Ccc>Tcc	p.P992S	PCDH17_uc010aec.1_Missense_Mutation_p.P991S|PCDH17_uc001vhr.1_Missense_Mutation_p.P81S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	992					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACTGTGAATCCCACTGGGAA	0.418000														56			20		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576346	149576346	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:149576346C>T	uc003lrr.3	+	2	656	c.285C>T	c.(283-285)ctC>ctT	p.L95L		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	95						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCCTGGAGCTCTCCCTGGGCC	0.642000														156			63		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847156	7847156	+	Missense_Mutation	SNP	G	A	A	rs117218570	by1000genomes	TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:7847156G>A	uc010rbg.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCACATAGCGATCATAGGCC	0.557000														88			35		0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	33892682	33892682	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:33892682G>A	uc002nur.4	-	11	1045	c.912C>T	c.(910-912)gcC>gcT	p.A304A	PEPD_uc010xrs.2_Silent_p.A240A|PEPD_uc010xrr.2_Silent_p.A263A	NM_000285	NP_000276	P12955	PEPD_HUMAN	Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.	304					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCTCATAGACGGCCTTCTGGT	0.627000														14			4		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121303794	121303794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:121303794C>T	uc003eef.3	+	3	346	c.251C>T	c.(250-252)tCt>tTt	p.S84F		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GAACGTACTTCTTTCACCCAC	0.438000														131			61		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084955	152084955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:152084955C>T	uc009wne.1	-	2	1010	c.738G>A	c.(736-738)tgG>tgA	p.W246*	TCHH_uc001ezp.2_Nonsense_Mutation_p.W246*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	246					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCGCTTCCTCCACTCTTTCT	0.587000														166			87		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4046014	4046014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:4046014G>A	uc002fxe.3	-	0	240	c.176C>T	c.(175-177)gCt>gTt	p.A59V	ZZEF1_uc002fxk.1_Missense_Mutation_p.A59V|CYB5D2_uc002fxm.4_5'Flank|CYB5D2_uc002fxl.4_5'Flank|CYB5D2_uc010cko.3_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	59							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGCTGCAGCAGCCTCTCGCAG	0.756000														9			4		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100832313	100832313	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:100832313T>C	uc003yiv.3	+	48	9143	c.9032T>C	c.(9031-9033)gTt>gCt	p.V3011A	VPS13B_uc003yiw.3_Missense_Mutation_p.V2986A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3011					protein transport			p.V3011D(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCTACAGGTTCCTGCTGGC	0.353000														64			54		0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129924930	129924930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:129924930C>T	uc003igp.2	-	5	898	c.392G>A	c.(391-393)aGa>aAa	p.R131K	SCLT1_uc003igq.2_Missense_Mutation_p.R131K|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	131						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTGAAGGTTTCTGACTGTTTC	0.338000														47			11		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128339518	128339518	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:128339518G>A	uc002top.3	+	10	1186	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	378	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATCCTCATCCGAGGGGAATTT	0.627000														84			43		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911016	101911016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:101911016G>A	uc010nod.3	+	2	2817	c.2175G>A	c.(2173-2175)tgG>tgA	p.W725*	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Nonsense_Mutation_p.W725*|GPRASP1_uc004ejj.4_Nonsense_Mutation_p.W725*|GPRASP1_uc004eji.4_Nonsense_Mutation_p.W725*|GPRASP1_uc022cbd.1_Nonsense_Mutation_p.W725*	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	725	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGGTTATGGGCTACAGAAG	0.453000														105			54		0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538505	27538505	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr10:27538505C>T	uc001its.2	-	0	2731	c.888G>A	c.(886-888)ctG>ctA	p.L296L						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		CATTCTTCTTCAGGGGTGTAG	0.493000														136			62		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102920	22102920	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:22102920G>A	uc010tmc.2	-	0	79	c.79C>T	c.(79-81)Cta>Tta	p.L27L		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGGCTTCTTAGATTTGGGGGG	0.488000														71			44		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841033	13841033	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:13841033C>T	uc003jfd.2	-	33	5733	c.5691G>A	c.(5689-5691)agG>agA	p.R1897R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1897	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGATATCCCTTTGGTGCA	0.398000									Kartagener syndrome					43			14		0	0	1	0	0
CDRT15P1	94158	broad.mit.edu	37	17	13928449	13928449	+	RNA	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:13928449G>A	uc002god.1	+	0		c.635G>A								Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA.																		AAGTGGGAGGGAGGGGGTGAC	0.617000														24			11		0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94837047	94837047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr10:94837047C>T	uc001kil.2	+	6	1525	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	CYP26A1_uc001kik.1_Missense_Mutation_p.H425Y	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	494					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CACCCATTTCCATGGGGAAAT	0.413000														21			18		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64556386	64556386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:64556386C>T	uc001xgl.3	+	58	11995	c.11765C>T	c.(11764-11766)tCa>tTa	p.S3922L	SYNE2_uc001xgm.3_Missense_Mutation_p.S3922L|SYNE2_uc021ruh.1_Missense_Mutation_p.S3955L|SYNE2_uc010apy.3_Missense_Mutation_p.S307L|SYNE2_uc010apx.1_Missense_Mutation_p.S314L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3922					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGATTTTTCACCTGAAGAA	0.254000														26			10		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77282817	77282817	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:77282817G>A	uc004aji.3	+	8	1193	c.1144_splice	c.e8+1	p.D382_splice	RORB_uc004ajh.3_Splice_Site_p.D371_splice	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	382	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GATATCTCCAGGTAGGGCAGT	0.403000														50			4		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57180913	57180913	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:57180913G>A	uc003hbk.2	+	7	1636	c.1245G>A	c.(1243-1245)tgG>tgA	p.W415*	KIAA1211_uc010iha.2_Nonsense_Mutation_p.W408*|KIAA1211_uc011bzz.1_Nonsense_Mutation_p.W325*|KIAA1211_uc003hbm.1_Nonsense_Mutation_p.W301*	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	415	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGAGGACTGGAGGGGGCAGC	0.657000														6			4		0	0	1	0	0
FAM122B	159090	broad.mit.edu	37	X	133922779	133922779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:133922779G>A	uc022cem.1	-	5	566	c.416C>T	c.(415-417)cCc>cTc	p.P139L	FAM122B_uc004ext.3_Missense_Mutation_p.P67L|FAM122B_uc004exq.3_Missense_Mutation_p.P139L|FAM122B_uc022cek.1_Missense_Mutation_p.P120L|FAM122B_uc022cel.1_Missense_Mutation_p.P120L|FAM122B_uc004exr.3_Missense_Mutation_p.P120L|FAM122B_uc011mvp.2_Missense_Mutation_p.P86L|FAM122B_uc004exv.3_Missense_Mutation_p.P139L	NM_001170756	NP_001164227	Q7Z309	F122B_HUMAN	Homo sapiens family with sequence similarity 122B (FAM122B), transcript variant 4, mRNA.	120										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TCCCCTGGTGGGTGAAGGTGC	0.398000														28			25		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35691271	35691271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:35691271C>T	uc003jjo.3	+	10	1768	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S	SPEF2_uc003jjq.4_Missense_Mutation_p.P553S|SPEF2_uc003jjp.1_Missense_Mutation_p.P44S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	553					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAACAACACCTGAATTACC	0.388000														81			27		0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161682926	161682926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:161682926C>T	uc001gbe.3	+	5	1147	c.905C>T	c.(904-906)tCa>tTa	p.S302L	FCRLA_uc001gbg.3_Missense_Mutation_p.S156L|FCRLA_uc009wup.3_Missense_Mutation_p.S112L|FCRLA_uc009wuq.3_Missense_Mutation_p.S61L|FCRLA_uc001gbd.3_Missense_Mutation_p.S296L|FCRLA_uc001gbf.3_Missense_Mutation_p.S207L|FCRLA_uc009wuo.3_Missense_Mutation_p.S162L	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	279	Pro-rich.				cell differentiation	cytoplasm|extracellular region		p.S301F(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCTCAGAAATCAGCTGCTCCA	0.577000														114			49		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77950883	77950883	+	Missense_Mutation	SNP	G	A	A	rs138409143	byFrequency	TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:77950883G>A	uc001xtz.3	-	2	484	c.410C>T	c.(409-411)cCt>cTt	p.P137L	ISM2_uc001xua.3_Missense_Mutation_p.P137L|ISM2_uc001xty.3_Missense_Mutation_p.P49L	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	137						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TTCCCTCAGAGGCCTAGGATC	0.602000														32			16		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703378	33703378	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:33703378T>A	uc001uuw.3	-	4	1562	c.1436A>T	c.(1435-1437)aAa>aTa	p.K479I	STARD13_uc001uuu.3_Missense_Mutation_p.K471I|STARD13_uc001uuv.3_Missense_Mutation_p.K361I|STARD13_uc001uux.3_Missense_Mutation_p.K444I|STARD13_uc010abh.1_Missense_Mutation_p.K464I|STARD13_uc021rhz.1_Missense_Mutation_p.K471I|STARD13_uc021ria.1_Missense_Mutation_p.K361I	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	479					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AAGGTCATCTTTCTCCAAGTC	0.507000														47			30		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506765	11506765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:11506765C>T	uc001qzw.1	-	2	309	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	PRB1_uc001qzu.1_Missense_Mutation_p.R91Q|PRB1_uc001qzv.1_Missense_Mutation_p.R91Q	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	91	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCGGGGACTTCG	0.612000														670			134		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:21731270T>C	uc002gyy.3	+	1	697	c.572T>C	c.(571-573)aTc>aCc	p.I191T				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	0	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.I191T(3)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ATCCCCCCGATCAGCAGAGGC	0.547000														88			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90458637	90458637	+	RNA	SNP	A	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:90458637A>G	uc010yts.2	+	42		c.5827A>G								Parts of antibodies, mostly variable regions.																		AGATTTTGCAACTTATTACTG	0.512000														792			15		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199595	117199595	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:117199595C>T	uc003vjd.3	+	10	1602	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	490	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAATTTCATTCTGTTCTCAGT	0.368000									Cystic Fibrosis					74			21		0	0	1	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51501579	51501579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:51501579G>A	uc001vfa.4	+	1	500	c.101G>A	c.(100-102)gGg>gAg	p.G34E	RNASEH2B_uc001vfb.4_Missense_Mutation_p.G34E	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	34					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		ATGAAAAATGGGCTAATGTTT	0.308000														34			13		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022507	12022507	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:12022507C>T	uc001qzz.3	+	4	887	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	205						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCGGTCCCCCCTGGACAACAT	0.632000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									188			87		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653921	159653921	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:159653921G>A	uc010kjv.3	+	10	2577	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	FNDC1_uc010kjw.1_Missense_Mutation_p.D678N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	793						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGTGACGGCGATAGGGAAGA	0.632000														19			12		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	887678	887678	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:887678G>A	uc003gbm.4	-	7	1060	c.861C>T	c.(859-861)gtC>gtT	p.V287V	GAK_uc003gbn.4_Silent_p.V208V|GAK_uc010ibk.1_Silent_p.V181V|GAK_uc003gbl.4_Silent_p.V151V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	287	Protein kinase.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGCTGTGGAAGACCGTGTACT	0.622000														40			15		0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20837244	20837244	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr18:20837244C>T	uc002kuc.2	+	9	1815	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	TMEM241_uc010xaq.2_Intron|CABLES1_uc002kub.2_Silent_p.F108F|CABLES1_uc002kud.2_Silent_p.F340F	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	605					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTTTGAATTCCCGGTGTTAG	0.488000														47			20		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473351	22473351	+	RNA	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:22473351C>T	uc001yuj.2	-	5		c.60G>A								Parts of antibodies, mostly variable regions.																		ACAGGTGTTTCATGTTCTTGT	0.512000														75			5		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70897790	70897790	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:70897790G>A	uc003pfc.1	+	46	2985	c.2868G>A	c.(2866-2868)ggG>ggA	p.G956G		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	956	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGATCAGGGGATTCCAGGAG	0.473000														36			13		0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150051338	150051338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:150051338G>A	uc003lss.2	+	4	879	c.292G>A	c.(292-294)Gag>Aag	p.E98K	MYOZ3_uc003lsr.2_Missense_Mutation_p.E98K	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	98	Binding to FLNC.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAATGGCCCTGAGGGGCCGAA	0.726000														31			11		0	0	1	0	0
C17orf101	79701	broad.mit.edu	37	17	80352403	80352403	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:80352403C>T	uc002ket.2	-	8	992	c.840G>A	c.(838-840)cgG>cgA	p.R280R	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Intron	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	0	Fe2OG dioxygenase.					integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						AAGACATCATCCGGAAACAAA	0.582000														74			31		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063140	46063140	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:46063140G>A	uc003cpe.3	-	2	524	c.300C>T	c.(298-300)ttC>ttT	p.F100F	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.F100F|XCR1_uc021wwx.1_Silent_p.F100F	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	100					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTTGCAGAGGAAGTCTCCCA	0.542000														15			14		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893679	43893679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:43893679C>T	uc001zsf.3	-	23	4694	c.4616G>A	c.(4615-4617)gGa>gAa	p.G1539E	STRC_uc010bdl.3_Missense_Mutation_p.G766E|STRC_uc001zse.3_Missense_Mutation_p.G57E	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1539					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TTCCCGATCTCCTAGACCTAT	0.552000														17			18		0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75140347	75140347	+	RNA	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:75140347G>A	uc022agi.1	-	7		c.1286C>T			PMS2P3_uc003udq.3_Non-coding_Transcript|PMS2P3_uc022agj.1_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 3 (PMS2P3), non-coding RNA.											lung(1)	1						GTGGGGGTAGGGGGTTTCCTG	0.502000														92			39		0	0	1	0	0
C16orf7	9605	broad.mit.edu	37	16	89777111	89777111	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:89777111C>A	uc002fom.1	-	9	1266	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	C16orf7_uc002fol.1_Nonsense_Mutation_p.E311*|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	381					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TCCAGGTCCTCGAACGAGCTG	0.701000														11			3		0.115264	0.1155	1	1	0
OTOP1	133060	broad.mit.edu	37	4	4199274	4199274	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:4199274G>A	uc003ghp.1	-	4	1317	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	429					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCGCCAGGATGGAGTAGGGCA	0.562000														81			27		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89168884	89168884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:89168884C>T	uc021ryf.1	-	13	2393	c.2144G>A	c.(2143-2145)cGa>cAa	p.R715Q	EML5_uc021ryg.1_Missense_Mutation_p.R715Q|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	715						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTTTTGCTGTCGATTATAAAT	0.393000														24			14		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781675	128781675	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:128781675G>A	uc001qet.3	+	1	821	c.507G>A	c.(505-507)ttG>ttA	p.L169L	KCNJ5_uc009zck.3_Silent_p.L169L|KCNJ5_uc001qew.3_Silent_p.L169L	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	169					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TACTCCTCTTGGTCCAGGCCA	0.522000														113			50		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331678	107331678	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:107331678C>T	uc011lvo.2	+	0	230	c.230C>T	c.(229-231)tCt>tTt	p.S77F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACAAGTTCCTCTGTCCCACTA	0.443000														71			56		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	59442	59442	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:59442C>T	uc003fzv.1	+	1	279	c.123C>T	c.(121-123)gtC>gtT	p.V41V	ZNF718_uc003fzt.4_Silent_p.V41V|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GGAACCTGGTCTCCCTGGGTG	0.433000														559			24		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50271986	50271986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:50271986C>T	uc001zxu.3	-	11	1004	c.862G>A	c.(862-864)Gga>Aga	p.G288R	ATP8B4_uc010ber.3_Missense_Mutation_p.G161R|ATP8B4_uc010ufd.2_Missense_Mutation_p.G161R|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	288					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGAATAATTCCCAAGCATATC	0.358000														21			16		0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220387315	220387315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:220387315C>T	uc010puk.1	-	2	351	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.E63K|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Missense_Mutation_p.E63K	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	63					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.E63delE(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTATTTCCTTCTTCTTCCTGT	0.383000														15			6		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560257	44560257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr18:44560257G>A	uc002lcr.1	-	0	1732	c.1379C>T	c.(1378-1380)tCa>tTa	p.S460L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	460					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCAGAGCTCTGAGAAGACATG	0.597000														99			41		0	0	1	0	0
LOC643486	643486	broad.mit.edu	37	X	95592484	95592484	+	RNA	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:95592484G>A	uc010nmx.3	-	0		c.418C>T								Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA.																		AGATCCCTCTGATTTTCTTGA	0.383000														38			12		0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121825236	121825236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:121825236G>A	uc003eet.3	+	3	720	c.592G>A	c.(592-594)Gac>Aac	p.D198N	CD86_uc011bjo.2_Missense_Mutation_p.D116N|CD86_uc011bjp.2_Missense_Mutation_p.D86N|CD86_uc003eeu.3_Missense_Mutation_p.D192N|CD86_uc021xcz.1_Missense_Mutation_p.D192N	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	198	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGAACTGTACGACGTTTCCAT	0.398000														72			35		0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139299544	139299544	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:139299544G>A	uc004chi.3	-	7	1210	c.1005_splice	c.e7+1	p.T335_splice	SDCCAG3_uc004chj.3_Splice_Site_p.T312_splice|SDCCAG3_uc004chk.3_Splice_Site_p.T262_splice	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	335						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		AACCCATACGGTCATCAGCTC	0.567000														73			8		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57931768	57931768	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:57931768G>A	uc002emt.2	-	29	3092	c.3027C>T	c.(3025-3027)gtC>gtT	p.V1009V	CNGB1_uc010cdh.2_Silent_p.V1003V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1009					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGCCGCCCAAGACCTGCACTT	0.547000														161			62		0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105238262	105238262	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:105238262G>A	uc001tla.3	-	8	1691	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	508						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GTAACACAGCGCCAAATAAAT	0.313000														62			12		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874775	33874775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr20:33874775C>T	uc021wck.1	-	3	1925	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.A258T	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	603										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAACCCTGGGCCTTGGGGTAC	0.632000														58			26		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736271	4736271	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:4736271C>T	uc001qnb.4	-	3	2041	c.1797G>A	c.(1795-1797)cgG>cgA	p.R599R		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	599					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.R599Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TAAGTAAGTTCCGGATGAAAT	0.458000														89			28		0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123296057	123296057	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:123296057G>A	uc003vky.2	+	0	197	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	14	Glu-rich.|Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding										CAGTAAATACGAATCCATCGA	0.537000														6			6		0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709513	128709513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:128709513C>T	uc001qeo.1	-	1	734	c.683G>A	c.(682-684)gGa>gAa	p.G228E	KCNJ1_uc001qep.1_Missense_Mutation_p.G209E|KCNJ1_uc001qeq.1_Missense_Mutation_p.G209E|KCNJ1_uc001qer.1_Missense_Mutation_p.G209E|KCNJ1_uc001qes.1_Missense_Mutation_p.G209E|KCNJ1_uc021qsb.1_Missense_Mutation_p.G209E	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	228					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CAGAAGCTTTCCATAAATGTG	0.443000														90			49		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678074	25678074	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:25678074C>T	uc003grr.3	+	12	1857	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	SLC34A2_uc003grs.3_Silent_p.F591F|SLC34A2_uc010iev.3_Silent_p.F591F	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	592				Missing (in Ref. 6; BAC11354).	cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACTGGAACTTCCTGCCGCTGT	0.622000			T	ROS1	NSCLC									110			55		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8046937	8046937	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:8046937G>A	uc003gko.3	-	8	997	c.854C>T	c.(853-855)tCt>tTt	p.S285F	ABLIM2_uc003gkl.3_Missense_Mutation_p.S35F|ABLIM2_uc003gkm.4_Missense_Mutation_p.S285F|ABLIM2_uc003gkp.3_Missense_Mutation_p.S285F|ABLIM2_uc003gkq.3_Missense_Mutation_p.S285F|ABLIM2_uc003gkr.3_Missense_Mutation_p.S285F|ABLIM2_uc003gkj.4_Missense_Mutation_p.S285F|ABLIM2_uc003gks.3_Missense_Mutation_p.S285F|ABLIM2_uc011bwl.1_Missense_Mutation_p.S290F	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	285					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						AGCAGGGACAGAAATGATGCT	0.547000														86			36		0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67228866	67228866	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:67228866C>T	uc002erz.3	+	5	854	c.791C>T	c.(790-792)cCa>cTa	p.P264L		NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	264					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		ATGGCTGGCCCAGCAGCTGAG	0.577000														32			6		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480892	140480892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140480892C>T	uc003lio.3	+	0	659	c.659C>T	c.(658-660)cCc>cTc	p.P220L	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	220	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGGCTCTCCCCCTCGGTCT	0.552000														32			16		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559284	140559284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140559284G>A	uc011dai.2	+	0	1914	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	557	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGCCAACGACAACTCGCC	0.711000														81			32		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121086	38121086	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr10:38121086C>A	uc001izd.1	-	5	1696	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.Q399H	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGTGTGTTCTCTGATGTTGAG	0.468000														49			31		7.72975e-29	7.94041e-29	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35965594	35965594	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:35965594G>A	uc003olm.3	-	4	659	c.548C>T	c.(547-549)tCg>tTg	p.S183L	SLC26A8_uc003oll.3_Missense_Mutation_p.S183L|SLC26A8_uc003oln.3_Missense_Mutation_p.S183L	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	183					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GGAGGGGGCCGAAAACTCATT	0.458000														36			17		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255008	3255008	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:3255008C>T	uc010uwu.2	+	0	762	c.762C>T	c.(760-762)acC>acT	p.T254T		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TCTACAGCACCATCATTGCTG	0.498000														123			42		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677213	37677213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:37677213G>A	uc002ofq.3	-	4	1478	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZNF585B_uc002ofr.1_Missense_Mutation_p.S223L	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATATATACGATTTTTCTCC	0.423000														23			21		0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74799928	74799928	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:74799928G>A	uc010rro.2	-	0	831	c.831C>T	c.(829-831)atC>atT	p.I277I		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CATTGCCCATGATATGGAAGT	0.512000														69			30		0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178820449	178820449	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:178820449T>A	uc001gma.3	-	5	1767	c.1291A>T	c.(1291-1293)Aac>Tac	p.N431Y	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.N431Y	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	431	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TGGGCGCAGTTTCCTTTGAGG	0.388000														45			19		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215792	130215792	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:130215792G>A	uc004evz.3	+	1	498	c.153G>A	c.(151-153)tcG>tcA	p.S51S	ARHGAP36_uc004ewa.3_Silent_p.S39S|ARHGAP36_uc004ewb.3_Silent_p.S20S|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	51					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGATGGTATCGATACACAGCC	0.532000														156			57		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009884	41009884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:41009884C>T	uc002ony.3	+	11	1596	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	SPTBN4_uc002onx.3_Missense_Mutation_p.R504W|SPTBN4_uc002onz.3_Missense_Mutation_p.R504W	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	504					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.R504Q(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTACGATATCCGGCGGGTGGC	0.662000														24			19		0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14947652	14947652	+	Silent	SNP	A	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:14947652A>T	uc001rci.3	-	6	701	c.540T>A	c.(538-540)gtT>gtA	p.V180V		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	180	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding	p.A179V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GAAGGATAGAAACTGCCCGAG	0.448000														65			29		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48805808	48805808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:48805808G>A	uc003xqi.3	-	31	3793	c.3736C>T	c.(3736-3738)Cca>Tca	p.P1246S	PRKDC_uc003xqj.3_Missense_Mutation_p.P1246S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1247					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCTGAATGGCCCCCGAAGT	0.607000								Non-homologous end-joining						14			3		0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48559536	48559536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:48559536C>T	uc002iqw.1	+	3	615	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	187					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGCCCGGCGCCTCTTTCCCGG	0.662000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			31		0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19035969	19035969	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:19035969G>A	uc002zoq.1	-	6	1238	c.990C>T	c.(988-990)ttC>ttT	p.F330F	DGCR2_uc021wkx.1_Silent_p.F327F|DGCR2_uc021wky.1_Silent_p.F289F|DGCR2_uc021wkz.1_Silent_p.F106F|DGCR2_uc011agr.1_Silent_p.F286F|DGCR2_uc002zor.1_Silent_p.F106F|DGCR11_uc002zos.2_5'Flank	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	330	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCAGACACATGAACTTGCAGC	0.597000														181			92		0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969155	118969155	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr10:118969155G>A	uc010qsr.2	+	2	500	c.500G>A	c.(499-501)cGa>cAa	p.R167Q		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	167						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AATCGGTTCCGAAAATTCCCT	0.507000														53			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595880	179595880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:179595880C>T	uc021vsy.1	-	56	14005	c.13780G>A	c.(13780-13782)Gac>Aac	p.D4594N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1255N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5521	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGCTGGGTCTCCTTGGGTG	0.438000														127			57		0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	665915	665915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:665915G>A	uc003wph.3	-	1	180	c.115C>T	c.(115-117)Cca>Tca	p.P39S		NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	39										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ACTTTCTTTGGTGGATTTTGG	0.498000														114			59		0	0	1	0	0
OCM	654231	broad.mit.edu	37	7	5923527	5923527	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:5923527C>T	uc003spe.4	+	2	293	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN	Homo sapiens oncomodulin (OCM), mRNA.	67	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		GTAGGTTTTTCCTCCAGAAGT	0.428000														16			9		0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639548	9639548	+	Silent	SNP	A	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:9639548A>G	uc002mlq.3	-	7	1437	c.1173T>C	c.(1171-1173)ccT>ccC	p.P391P	ZNF426_uc010dws.3_Silent_p.P353P	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						CACATACAAAAGGCTTCTCTC	0.418000														22			20		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653007	46653007	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:46653007G>A	uc003bhh.3	-	0	6213	c.6213C>T	c.(6211-6213)ttC>ttT	p.F2071F		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2071					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATCGTAGAAGAATCTGGAAT	0.463000														45			19		0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72055148	72055148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:72055148C>T	uc002fbp.3	+	4	664	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	215	Substrate binding.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	TGTGTCCAGCCCCAACACTGC	0.677000														14			8		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49578828	49578828	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:49578828C>T	uc003ozk.4	-	6	1038	c.976G>A	c.(976-978)Gat>Aat	p.D326N	RHAG_uc010jzl.3_Missense_Mutation_p.D326N|RHAG_uc010jzm.3_Intron	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	326					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CCACATGTATCATGGATCCTC	0.423000														51			21		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043608	74043608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:74043608G>A	uc002sjr.1	+	2	2379	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	753										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TACCCTGCTCGACCTGATTCT	0.552000														92			54		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540327	169540327	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:169540327G>A	uc003fgb.3	+	0	618	c.618G>A	c.(616-618)gaG>gaA	p.E206E		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	206										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCCCAGAAGAGATCGGACACC	0.527000														116			36		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351641	42351641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:42351641G>A	uc010xwe.2	+	1	228	c.145G>A	c.(145-147)Ggt>Agt	p.G49S	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.G49S	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	49					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCGCAACCATGGTGTCACCGC	0.622000														47			40		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730652	37730652	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:37730652G>A	uc003xkm.2	-	3	1724	c.1668C>T	c.(1666-1668)tcC>tcT	p.S556S	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	556	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGTCAGTAGGGGAAGGAAGCC	0.537000														51			29		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260241	28260241	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr10:28260241C>T	uc009xky.3	-	8	1035	c.937_splice	c.e8-1	p.G313_splice	ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Splice_Site_p.G5_splice|ARMC4_uc001itz.3_Splice_Site_p.G313_splice|ARMC4_uc010qdu.1_Splice_Site_p.G5_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	313							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GAAGCTAATTCCCTTTATTTA	0.393000														19			7		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48436111	48436111	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:48436111C>T	uc003csr.3	+	10	1568	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	FBXW12_uc010hjv.3_Missense_Mutation_p.S442F|FBXW12_uc003css.3_Missense_Mutation_p.S391F|FBXW12_uc010hjw.3_Missense_Mutation_p.S360F	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	461										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGATGTATTCTTTGAATACG	0.363000														21			18		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36776350	36776350	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:36776350C>T	uc010lvw.3	+	22	2618	c.2531C>T	c.(2530-2532)cCa>cTa	p.P844L	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	844						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGGAGACTCCAGGTTACACA	0.373000														68			27		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6091022	6091022	+	Silent	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr20:6091022T>C	uc002wmr.3	-	4	1458	c.669A>G	c.(667-669)caA>caG	p.Q223Q	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Silent_p.Q223Q|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	223	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACTGGGGGGGTTGGCTGAATG	0.517000														43			18		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861016	75861016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:75861016G>A	uc001vjl.1	-	20	4156	c.3809C>T	c.(3808-3810)cCc>cTc	p.P1270L	TBC1D4_uc010tht.1_Missense_Mutation_p.P480L|TBC1D4_uc010thu.1_Missense_Mutation_p.P427L|TBC1D4_uc010aer.2_Missense_Mutation_p.P1262L|TBC1D4_uc010aes.2_Missense_Mutation_p.P1207L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1270						cytoplasm	Rab GTPase activator activity	p.P1270P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGCATCCGCGGGCAGCAGCTT	0.453000														44			19		0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:190878646G>T	uc003izs.3	+	5	717	c.526G>T	c.(526-528)Gaa>Taa	p.E176*		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	176					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.E176*(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373000														50			6		0.000274275	0.000277103	1	1	0
ANK1	286	broad.mit.edu	37	8	41551602	41551602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:41551602C>T	uc003xok.3	-	28	3430	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E432K|ANK1_uc003xoi.3_Missense_Mutation_p.E1116K|ANK1_uc003xoj.3_Missense_Mutation_p.E1116K|ANK1_uc003xol.3_Missense_Mutation_p.E1116K|ANK1_uc003xom.3_Missense_Mutation_p.E1157K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1116					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGACAAGCTCATCCGGGACA	0.627000														26			20		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143815	56143815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:56143815C>T	uc001nit.2	+	0	716	c.716C>T	c.(715-717)tCg>tTg	p.S239L		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AAGGCTTTCTCGACGTGTGGC	0.473000														51			30		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535692	69535692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:69535692C>T	uc021xow.1	-	0	803	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	215					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCATATGTATCATATTTTTTA	0.343000														95			37		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924619	226924620	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:226924619_226924620GG>AA	uc010pvo.2	-	1	880_881	c.540_541CC>TT	c.(538-543)ttccgc>ttTTgc	p.R181C	ITPKB_uc001hqh.3_Missense_Mutation_p.R181C	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	181							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGCTGCTGCGGAAGGGGCACG	0.673000														63			36		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43850353	43850353	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr20:43850353G>A	uc010ggz.3	+	1	137	c.80G>A	c.(79-81)gGa>gAa	p.G27E	SEMG2_uc002xnk.3_Missense_Mutation_p.G27E|SEMG2_uc002xnl.3_Missense_Mutation_p.G27E	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	27					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TTACCAGGTGGATCAAAAGGC	0.393000														65			27		0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23587926	23587926	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:23587926C>T	uc001wiv.2	-	0	895	c.375G>A	c.(373-375)cgG>cgA	p.R125R		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CCTCTGGCCCCCGGGGCTCCT	0.672000														19			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232149	21232149	+	Missense_Mutation	SNP	C	T	T	rs149358359	byFrequency	TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:21232149C>T	uc002red.3	-	25	7719	c.7591G>A	c.(7591-7593)Gaa>Aaa	p.E2531K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2531					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGTTGAAGTTCCTGCTGAATG	0.453000														28			25		0	0	1	0	0
VENTXP7	391518	broad.mit.edu	37	3	21447821	21447821	+	RNA	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:21447821C>T	uc003ccd.3	+	0		c.604C>T								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CCCTTGGCTCCTTCTGGGGTC	0.657000														7			3		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57405110	57405110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:57405110C>T	uc004dvc.3	+	5	918	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	257						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGGTCAGTTTCCCTTGGCTGT	0.507000										HNSCC(52;0.14)				70			6		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3565983	3565983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:3565983C>T	uc022aqr.1	-	6	1352	c.962G>A	c.(961-963)gGa>gAa	p.G321E		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	321						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATCTTGACTCCTCTTGACTT	0.438000														36			18		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5569226	5569226	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:5569226G>A	uc003sot.4	-	1	147	c.63C>T	c.(61-63)ttC>ttT	p.F21F	ACTB_uc003sor.4_5'UTR|ACTB_uc003soq.4_5'UTR|ACTB_uc011jwi.1_5'Flank	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	21					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGTCGCCCGCGAAGCCGGCCT	0.716000														50			18		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17542898	17542898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:17542898C>T	uc001mnf.3	-	12	1189	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	USH1C_uc001mne.3_Missense_Mutation_p.M360I|USH1C_uc009yhb.3_Missense_Mutation_p.M341I|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.M324I	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	360					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.M360V(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCACTGTTCCATCTCCTTCC	0.512000														126			49		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110654119	110654120	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:110654119_110654120GG>AA	uc004epd.3	-	0	255_256	c.83_84CC>TT	c.(82-84)tcc>tTT	p.S28F	DCX_uc011msv.2_Missense_Mutation_p.S28F|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	28					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GAGAACAGAAGGAGCTACCCAA	0.416000														151			75		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10961759	10961759	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:10961759T>C	uc001qyx.3	-	0	1009	c.916A>G	c.(916-918)Aga>Gga	p.R306G	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	306					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGCTTTCTTCTTCTAAGGAAA	0.373000														47			21		0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27235017	27235017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:27235017G>A	uc001rhq.3	-	0	439	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	134										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TCTTGCACAAGATTATTCAGT	0.413000														9			3		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247919	149247919	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:149247919T>G	uc002twm.4	+	11	5016	c.4019T>G	c.(4018-4020)tTt>tGt	p.F1340C	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.F598C|MBD5_uc002twp.3_Missense_Mutation_p.F390C	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1340						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AATGGAGACTTTAATGCCAAA	0.438000														38			19		0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117100314	117100314	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:117100314G>A	uc001pqr.3	-	2	448	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	83					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCATTCACCAGCCCTGCTGCC	0.667000			T	IGH@	MLCLS									50			23		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562841	125562841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:125562841G>A	uc011lze.2	+	0	440	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147R(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCCCTGGTGGGAATGGCATGG	0.617000														54			8		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57372379	57372379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:57372379C>T	uc001cyo.2	+	7	1268	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	379	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.S379F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTTGGAGGCTCCTTGGGCATT	0.393000														45			44		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729923	237729923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:237729923G>A	uc001hyl.1	+	27	3391	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1091	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTCCGTGCCGAGAAGACCTA	0.557000														73			37		0	0	1	0	0
MVK	4598	broad.mit.edu	37	12	110013874	110013874	+	Silent	SNP	C	T	T	rs104895327		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:110013874C>T	uc001toy.4	+	2	334	c.150C>T	c.(148-150)gaC>gaT	p.D50D	MMAB_uc001tov.3_5'Flank|MMAB_uc001tou.3_5'Flank|MMAB_uc010sxq.2_5'Flank|MVK_uc009zvk.3_Silent_p.D50D|MVK_uc010sxr.2_Silent_p.D50D|MVK_uc001toz.4_5'UTR|MVK_uc021rdo.1_Silent_p.D50D|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	50					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGAAAGTGGACCTCAGCTTAC	0.498000														58			23		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548736	116548736	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:116548736C>T	uc002tle.3	+	17	1644	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	DPP10_uc002tla.2_Silent_p.I537I|DPP10_uc002tlb.2_Silent_p.I487I|DPP10_uc002tlc.2_Silent_p.I533I|DPP10_uc002tlf.2_Silent_p.I530I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	537					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAATTAAAATCCTTCATATTG	0.338000														20			3		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11141561	11141561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:11141561C>T	uc010dxp.3	+	25	3898	c.3538C>T	c.(3538-3540)Cct>Tct	p.P1180S	SMARCA4_uc010dxo.3_Missense_Mutation_p.P1180S|SMARCA4_uc002mqf.4_Missense_Mutation_p.P1180S|SMARCA4_uc002mqg.1_Missense_Mutation_p.P1180S|SMARCA4_uc010dxq.3_Missense_Mutation_p.P1180S|SMARCA4_uc010dxr.3_Missense_Mutation_p.P1180S|SMARCA4_uc002mqj.4_Missense_Mutation_p.P1180S|SMARCA4_uc010dxs.3_Missense_Mutation_p.P1180S|SMARCA4_uc010dxt.1_Missense_Mutation_p.P400S|SMARCA4_uc002mqh.4_Missense_Mutation_p.P303S|SMARCA4_uc002mqi.1_Missense_Mutation_p.P383S	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1180	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGACTGGAATCCTCACCAGGT	0.617000			"""F, N, Mis"""		NSCLC									2			4		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054262	50054262	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:50054262G>A	uc004dox.4	+	5	3391	c.3093G>A	c.(3091-3093)ttG>ttA	p.L1031L	CCNB3_uc004doy.3_Silent_p.L1031L|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1031					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTGGCCTTACAAG	0.478000														93			4		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76503719	76503719	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:76503719G>A	uc010dhp.2	-	27	4530	c.4405C>T	c.(4405-4407)Ctg>Ttg	p.L1469L		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCTCCTTCAGGAAGTGGGCC	0.587000														27			16		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78542698	78542698	+	Splice_Site	SNP	A	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:78542698A>T	uc001syp.3	+	22	4958	c.4785_splice	c.e22+1	p.N1595_splice	NAV3_uc001syo.3_Splice_Site_p.N1595_splice|NAV3_uc010sub.2_Splice_Site_p.N1081_splice|NAV3_uc009zsf.3_Splice_Site_p.N426_splice	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1595						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTTTCAGCAAATGTAAGTCAC	0.308000										HNSCC(70;0.22)				23			10		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177899040	177899040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:177899040G>A	uc001glj.1	-	30	4005	c.3139C>T	c.(3139-3141)Cgg>Tgg	p.R1047W	SEC16B_uc001glk.1_Missense_Mutation_p.R723W|SEC16B_uc009wwy.1_3'UTR|SEC16B_uc001glh.1_Missense_Mutation_p.R706W|SEC16B_uc001gli.1_Missense_Mutation_p.R1046W|SEC16B_uc009wwz.1_Missense_Mutation_p.R705W	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	1046					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGATTTGGCCGATTCAGGCTA	0.527000														19			17		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658744	167658744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:167658744G>A	uc011cjq.1	-	8	1099	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	SPOCK3_uc021xuf.1_Missense_Mutation_p.P339S|SPOCK3_uc011cjr.1_Missense_Mutation_p.P219S|SPOCK3_uc003iri.1_Missense_Mutation_p.P339S|SPOCK3_uc011cjs.1_Missense_Mutation_p.P288S|SPOCK3_uc003irj.1_Missense_Mutation_p.P336S|SPOCK3_uc011cjt.1_Missense_Mutation_p.P247S|SPOCK3_uc011cjp.2_Missense_Mutation_p.P296S|SPOCK3_uc011cju.1_Missense_Mutation_p.P243S|SPOCK3_uc011cjv.1_Missense_Mutation_p.P241S	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	339	Thyroglobulin type-1.			K -> M (in Ref. 1; CAA04775).	signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.Q348*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TCACACAGGGGGATATACTGT	0.428000														71			33		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885256	29885256	+	Missense_Mutation	SNP	G	A	A	rs56916487		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:29885256G>A	uc003afo.3	+	3	1698	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	KIAA0845_uc003afp.3_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	543	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						ATCCCCAGCCGAAGTCAAGTC	0.557000														62			25		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138421116	138421116	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:138421116A>T	uc002tva.1	+	24	4532	c.4532A>T	c.(4531-4533)aAa>aTa	p.K1511I	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATATTTTTAAAGGATGGTCT	0.363000														8			9		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421589	150421589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:150421589C>T	uc003eyg.3	-	0	154	c.97G>A	c.(97-99)Gag>Aag	p.E33K	FAM194A_uc003eyh.3_5'UTR	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	33	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						tcctccacctcttcctcctcc	0.627000														31			9		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834324	168834324	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:168834324G>A	uc011bpj.1	-	7	1739	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	MECOM_uc010hwk.1_Missense_Mutation_p.P281S|MECOM_uc003ffj.3_Missense_Mutation_p.P323S|MECOM_uc003ffi.3_Missense_Mutation_p.P258S|MECOM_uc011bpi.1_Missense_Mutation_p.P259S|MECOM_uc003ffn.3_Missense_Mutation_p.P258S|MECOM_uc003ffk.2_Missense_Mutation_p.P258S|MECOM_uc003ffl.2_Missense_Mutation_p.P418S|MECOM_uc011bpk.1_Missense_Mutation_p.P258S|MECOM_uc010hwn.2_Missense_Mutation_p.P446S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGGGTTCCAGGAAGTGAAATG	0.473000														68			36		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9360725	9360725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr20:9360725G>A	uc021wam.1	+	9	784	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	PLCB4_uc010gbw.1_Missense_Mutation_p.E257K|PLCB4_uc010gbx.3_Missense_Mutation_p.E257K|PLCB4_uc021wal.1_Missense_Mutation_p.E257K|PLCB4_uc002wnh.3_Missense_Mutation_p.E104K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	257					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCGATTGAATGAAATTTTATT	0.308000														22			8		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73718532	73718532	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:73718532C>T	uc010ttx.2	+	7	994	c.831C>T	c.(829-831)ccC>ccT	p.P277P	PAPLN_uc001xnw.4_Silent_p.P250P|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.P277P	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	277						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCTCGGAGCCCCTGGTCATCG	0.682000														27			10		0	0	1	0	0
CPLX2	10814	broad.mit.edu	37	5	175306960	175306960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:175306960G>A	uc003mde.1	+	4	663	c.317G>A	c.(316-318)gGg>gAg	p.G106E	CPLX2_uc003mdf.1_Missense_Mutation_p.G106E|CPLX2_uc021yib.1_5'Flank	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	106					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		p.C105C(1)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGGGCTGCGGGGACGAGGAG	0.627000														21			8		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75278336	75278336	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:75278336C>T	uc001xqj.4	+	9	5366	c.5242C>T	c.(5242-5244)Cga>Tga	p.R1748*	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Nonsense_Mutation_p.R231*	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCAGTCATATCGAGACAAAAA	0.433000														32			13		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719148	140719148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140719148G>A	uc003ljk.2	+	0	795	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.E204K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	204	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCGCGAGGAAGAGGCTGT	0.597000														49			36		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129739745	129739745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:129739745G>A	uc001qfg.3	-	21	3371	c.3250C>T	c.(3250-3252)Cgc>Tgc	p.R1084C	NFRKB_uc001qfi.3_Missense_Mutation_p.R1059C|NFRKB_uc001qfh.3_Missense_Mutation_p.R1082C|NFRKB_uc010sbw.1_Missense_Mutation_p.R1069C|NFRKB_uc009zcr.3_Missense_Mutation_p.R345C	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1059					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGCATCAAGCGAAAAGCCGAA	0.552000														46			12		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159273754	159273754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:159273754G>A	uc001ftq.3	+	3	210	c.113G>A	c.(112-114)tGg>tAg	p.W38*		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	38	Ig-like 1.					integral to plasma membrane		p.W38*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AACCCTCCATGGAATAGAATA	0.368000														35			15		0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169672428	169672428	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:169672428C>T	uc010pls.2	-	3	888	c.779G>A	c.(778-780)gGa>gAa	p.G260E	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.G320E|SELL_uc001ggl.2_Missense_Mutation_p.G320E	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	307	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TGACCAGATTCCAGATGATTC	0.423000														16			3		0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56629017	56629017	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:56629017G>A	uc010sqj.2	+	6	968	c.711G>A	c.(709-711)ctG>ctA	p.L237L	SLC39A5_uc010sqi.2_Silent_p.L128L|SLC39A5_uc010sqk.2_Silent_p.L237L	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	237					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCGGCTCCTGGGACCTCGTC	0.627000														132			74		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395273	154395273	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:154395273G>A	uc010jih.1	+	0	2014	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	618					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACTGAATGAGCAGTCCAAAC	0.458000														70			33		0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7900103	7900103	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:7900103C>T	uc003jed.3	+	14	2140	c.2110C>T	c.(2110-2112)Cta>Tta	p.L704L	MTRR_uc003jee.4_Silent_p.L677L|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	704					methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGTTGAAAAACTAGAAGCAAT	0.343000														80			36		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6062751	6062751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:6062751C>T	uc001qnn.1	-	47	8147	c.7897G>A	c.(7897-7899)Gaa>Aaa	p.E2633K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2633	VWFC 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTATTTTCTTCCTTGTAACCC	0.463000														75			27		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793125	29793125	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr18:29793125G>A	uc002kxj.4	+	10	1229	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	394	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATTGAAAGTGACCAAGAAGT	0.413000														43			24		0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7097293	7097293	+	Nonsense_Mutation	SNP	A	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:7097293A>C	uc010vtn.2	-	11	1585	c.1325T>G	c.(1324-1326)tTa>tGa	p.L442*	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Nonsense_Mutation_p.L499*|DLG4_uc002get.4_Nonsense_Mutation_p.L545*|DLG4_uc010vto.2_Nonsense_Mutation_p.L542*	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	502	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CTTGGCCTTTAACCTTGACCA	0.582000														22			8		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66481770	66481770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:66481770C>T	uc003juy.2	-	1	314	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	56					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TCCAAAAATTCTGTTGTGTTT	0.333000														31			30		0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37407346	37407346	+	Missense_Mutation	SNP	G	A	A	rs61742280	byFrequency	TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:37407346G>A	uc003aqg.3	-	1	1311	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	TST_uc003aqh.3_Missense_Mutation_p.R206C	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	206	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						ACGGCACCACGGATATGGCCC	0.572000														43			12		0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41399552	41399552	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:41399552C>T	uc003xnx.3	+	7	828	c.618C>T	c.(616-618)atC>atT	p.I206I	GINS4_uc022aug.1_Non-coding_Transcript	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	206	Important for GINS complex assembly.				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AGCACTTGATCCGATACAAAA	0.512000														74			27		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022438	18022438	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:18022438G>A	uc021trm.1	+	0	543	c.324G>A	c.(322-324)gtG>gtA	p.V108V	MYO15A_uc021trl.1_Silent_p.V108V	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	108	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTTCATGGTGATCCGCTTCC	0.632000														12			7		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23775375	23775375	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:23775375G>A	uc003sws.4	+	6	769	c.702G>A	c.(700-702)agG>agA	p.R234R	STK31_uc003swt.4_Silent_p.R211R|STK31_uc011jze.2_Silent_p.R234R|STK31_uc010kuq.3_Silent_p.R211R	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	234							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGTTCTCAGGAACCTCAAAA	0.448000														60			30		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345489	119345489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:119345489C>T	uc003pyj.3	-	1	997	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	FAM184A_uc003pyk.4_Missense_Mutation_p.E97K|FAM184A_uc003pyl.4_Missense_Mutation_p.E97K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	217										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTGCCTTTTCCTGGCCTTTA	0.453000														41			10		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135797353	135797353	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:135797353C>T	uc004cca.2	-	6	750	c.516G>A	c.(514-516)gtG>gtA	p.V172V	TSC1_uc004ccb.3_Silent_p.V172V|TSC1_uc011mcq.1_Silent_p.V121V|TSC1_uc011mcr.2_Silent_p.V51V|TSC1_uc011mcs.1_Silent_p.V51V|TSC1_uc004ccc.1_Silent_p.V172V|TSC1_uc004cce.1_Silent_p.V172V	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	172					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGACTTCCGCCACGTGGCCTA	0.488000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					52			32		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122227480	122227480	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:122227480A>T	uc002tnc.3	-	8	1159	c.769T>A	c.(769-771)Tct>Act	p.S257T	CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.S257T|CLASP1_uc010yza.2_Missense_Mutation_p.S257T|CLASP1_uc021vnl.1_Missense_Mutation_p.S257T|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.S257T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	257					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GATGATGTAGAACTAGCAGAG	0.438000														58			29		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39288923	39288923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:39288923C>T	uc003jlv.4	-	9	1636	c.1547G>A	c.(1546-1548)gGa>gAa	p.G516E		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	516	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.G516*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CACTGTACCTCCATTTTGGCA	0.353000														64			22		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118867060	118867060	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:118867060T>C	uc003ecb.1	+	1	1472	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Y478H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	478								p.G477C(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGAAAGGGTTATCATATACG	0.368000														71			23		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516350	102516350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:102516350G>A	uc002cdi.3	+	10	2096	c.676G>A	c.(676-678)Gga>Aga	p.G226R	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G425R(2)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCTGGGAAAGGACCTGGGGC	0.622000														5			3		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490353	65490353	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:65490353C>T	uc002aon.2	-	8	2452	c.2271G>A	c.(2269-2271)agG>agA	p.R757R		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	757					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCGGTAGGCCCTCACCTTAA	0.532000														132			62		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70778357	70778357	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:70778357G>A	uc003pfc.1	+	14	1330	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	COL19A1_uc010kam.2_Missense_Mutation_p.E301K	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	405	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACCTGGAAAAGAGGGTCAGAG	0.443000														40			15		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287510	62287510	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:62287510G>A	uc001ntl.3	-	4	14679	c.14379C>T	c.(14377-14379)ttC>ttT	p.F4793F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4793					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTCCTTTGAAGCCAGGCA	0.517000														200			98		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17700781	17700781	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:17700781G>T	uc002grm.3	+	2	4988	c.4519G>T	c.(4519-4521)Gcc>Tcc	p.A1507S	RAI1_uc002grn.1_Missense_Mutation_p.A1507S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1507						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTGGGCCTGGCCTCCCAGCC	0.647000														44			22		1.55795e-14	1.5904e-14	1	1	0
DCAF11	80344	broad.mit.edu	37	14	24590594	24590594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:24590594C>T	uc001wlv.3	+	12	1547	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	DCAF11_uc001wlw.3_Missense_Mutation_p.P423S|DCAF11_uc001wlz.3_Missense_Mutation_p.P323S|DCAF11_uc001wly.3_Missense_Mutation_p.P379S|DCAF11_uc010tny.2_Missense_Mutation_p.P290S|DCAF11_uc001wmc.3_Missense_Mutation_p.P323S|DCAF11_uc001wmb.4_Missense_Mutation_p.P397S|DCAF11_uc001wma.4_Missense_Mutation_p.P423S	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	423						CUL4 RING ubiquitin ligase complex	protein binding										GCTGAAGCTCCCAGGGGACAG	0.572000														91			26		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601949	58601949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:58601949G>A	uc001nnd.4	-	5	969	c.838C>T	c.(838-840)Cct>Tct	p.P280S	GLYATL2_uc009ymq.3_Missense_Mutation_p.P280S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	280						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CAGCCACAAGGACAAATCTTA	0.353000														51			10		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152831380	152831380	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:152831380G>A	uc021zhb.1	-	5	752	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	SYNE1_uc003qot.4_Nonsense_Mutation_p.Q184*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q177*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q177*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.Q177*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	177	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTTCCTTGGATCTTGGTG	0.453000										HNSCC(10;0.0054)				91			28		0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159519815	159519815	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:159519815C>G	uc002tzv.3	+	14	2695	c.2435C>G	c.(2434-2436)tCg>tGg	p.S812W	PKP4_uc002tzu.3_Missense_Mutation_p.S812W|PKP4_uc002tzw.3_Missense_Mutation_p.S812W|PKP4_uc002tzx.3_Missense_Mutation_p.S469W|PKP4_uc002uaa.3_Missense_Mutation_p.S664W|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	812					cell adhesion	desmosome	protein binding	p.S812L(2)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAGGACTGTCGAAGTCCCCC	0.483000										HNSCC(62;0.18)				43			7		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31761953	31761953	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr20:31761953A>C	uc002wyo.1	+	3	442	c.371A>C	c.(370-372)aAc>aCc	p.N124T		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	124						extracellular region	lipid binding										AAAGGCCTTAACCTGAGCTTC	0.517000														86			30		0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58955410	58955410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:58955410C>T	uc010trr.2	+	25	4002	c.3758C>T	c.(3757-3759)cCa>cTa	p.P1253L	KIAA0586_uc001xdu.4_Missense_Mutation_p.P1185L|KIAA0586_uc010trs.2_Missense_Mutation_p.P1115L|KIAA0586_uc001xdt.4_Missense_Mutation_p.P1156L|KIAA0586_uc001xdv.4_Missense_Mutation_p.P1124L|KIAA0586_uc010trt.2_Missense_Mutation_p.P1060L	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	1124										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTCCAGAGCCAGTTCCCTTT	0.483000														43			17		0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914174	75914174	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:75914174A>T	uc003kem.3	-	1	543	c.358T>A	c.(358-360)Ttc>Atc	p.F120I	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.F98I	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	120					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GTCCTGAAGAAAAGCATCCAC	0.453000														55			24		0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33454248	33454248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:33454248G>A	uc002hix.3	+	1	479	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA.	133										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TGCAGAAAATGAGGACCTGGC	0.582000														141			59		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826765	25826765	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:25826765A>G	uc003nfh.4	-	2	247	c.131T>C	c.(130-132)aTg>aCg	p.M44T	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.M44T|SLC17A1_uc010jqc.1_Missense_Mutation_p.M42T	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	44					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CATGACTACCATTGTGAGGTT	0.433000														99			53		0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007351	56007351	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:56007351C>T	uc003tra.2	+	6	1791	c.984C>T	c.(982-984)tcC>tcT	p.S328S	ZNF713_uc003trc.1_Silent_p.S315S	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGCATTCATCCTTTACTCAAC	0.403000														75			42		0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135517065	135517065	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:135517065C>T	uc003qfh.3	+	8	1327	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Silent_p.I376I|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Silent_p.I2I|MYB_uc003qfw.3_Silent_p.I188I|MYB_uc010kgi.3_Silent_p.I376I|MYB_uc003qfq.3_Silent_p.I373I|MYB_uc010kgj.3_Silent_p.I341I|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Silent_p.I373I|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Intron|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Silent_p.I376I|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Intron|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Silent_p.I376I|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	376	Leucine-zipper.|Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGTGCATGATCGTCCACCAGG	0.478000			T	NFIB	adenoid cystic carcinoma									45			17		0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18928949	18928949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:18928949C>T	uc003zni.2	-	3	876	c.526G>A	c.(526-528)Gat>Aat	p.D176N	FAM154A_uc010mip.2_5'UTR	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	176										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ATGGGGTAATCGTCCTGGTGT	0.478000														27			25		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201460035	201460035	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:201460035C>T	uc002uvx.3	+	2	245	c.144C>T	c.(142-144)ggC>ggT	p.G48G		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	48	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAGGAGGAGGCTGTGGTGCTT	0.408000														17			4		0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93275750	93275750	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:93275750C>A	uc001yaz.1	+	3	1060	c.878C>A	c.(877-879)gCt>gAt	p.A293D		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	293					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTGACTGAAGCTGTGGCTGCA	0.488000			T	RET	papillary thyroid									70			18		1.01871e-10	1.03562e-10	1	1	0
ZNF658	26149	broad.mit.edu	37	9	40773305	40773305	+	Missense_Mutation	SNP	G	A	A	rs146060713		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:40773305G>A	uc004abs.2	-	4	2122	c.1970C>T	c.(1969-1971)cCc>cTc	p.P657L	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.P657L	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACATTCATAGGGTTTCTCCCC	0.423000														97			66		0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160760	12160760	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr10:12160760C>T	uc001ild.4	+	14	2514	c.2415C>T	c.(2413-2415)ctC>ctT	p.L805L		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	805					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTAAGACCCTCGTGTTCTGCT	0.473000														162			79		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40290939	40290939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:40290939C>T	uc001zkm.1	+	19	2926	c.2876C>T	c.(2875-2877)tCg>tTg	p.S959L	EIF2AK4_uc010bbj.1_Missense_Mutation_p.S660L|EIF2AK4_uc001zkn.1_Missense_Mutation_p.S59L	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	959	Protein kinase 2.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TAGCCCACTTCGCCTAAGTTT	0.348000														10			12		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955501	18955501	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:18955501G>A	uc001mpg.3	-	0	1049	c.831C>T	c.(829-831)tcC>tcT	p.S277S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	277					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGCCTAAAGGAGCCCACGA	0.507000														44			30		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216926	1216926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:1216926G>A	uc003jbw.4	+	7	1095	c.1039G>A	c.(1039-1041)Ggg>Agg	p.G347R		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	347					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCATCAACGGGTTCGACCT	0.652000														110			54		0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3729240	3729240	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:3729240C>T	uc010ewt.3	+	5	476	c.315C>T	c.(313-315)atC>atT	p.I105I		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	124							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TACCAGAAATCCCAGAAAGAG	0.438000										HNSCC(21;0.051)				7			11		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66437954	66437954	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:66437954G>A	uc021xzk.1	+	19	2814	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	MAST4_uc003jut.2_Missense_Mutation_p.E647K|MAST4_uc003juu.1_Missense_Mutation_p.E657K|MAST4_uc011cra.1_Missense_Mutation_p.E630K|MAST4_uc003juv.2_Missense_Mutation_p.E642K|MAST4_uc003juw.3_Missense_Mutation_p.E642K	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	839	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGGTGCATATGAAGTCAAACA	0.428000														88			33		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413874	22413874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:22413874C>T	uc001yuf.3	+	0	413	c.173C>T	c.(172-174)tCt>tTt	p.S58F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GTCATGAACTCTAGAGCCTGC	0.517000														260			36		0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48473476	48473476	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr18:48473476G>A	uc002ley.3	+	15	1936	c.1677G>A	c.(1675-1677)cgG>cgA	p.R559R	ME2_uc010dpd.3_3'UTR	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	559					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GAACATGGCGGAGTGAATATG	0.403000														87			39		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31285540	31285541	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:31285540_31285541CC>TG	uc003aiy.1	+	6	1644_1645	c.1540_1541CC>TG	c.(1540-1542)ccc>TGc	p.P514C	OSBP2_uc011ala.1_Missense_Mutation_p.P348C|OSBP2_uc010gwc.1_Missense_Mutation_p.P341C|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Missense_Mutation_p.P513C|OSBP2_uc003aja.1_Missense_Mutation_p.P147C|OSBP2_uc011alc.2_Missense_Mutation_p.P256C|OSBP2_uc011ald.1_Missense_Mutation_p.P58C|OSBP2_uc010gwd.1_Missense_Mutation_p.P59C	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	514					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGTCCGCATTCCCAACAAGCCC	0.599000														158			54		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99163138	99163138	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:99163138T>C	uc002syy.3	+	12	1537	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	INPP4A_uc010yvj.1_Missense_Mutation_p.F382L|INPP4A_uc010yvk.2_Missense_Mutation_p.F382L|INPP4A_uc002syx.3_Missense_Mutation_p.F382L|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	382					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCTGCACAAATTTGAAGAGAC	0.433000														23			12		0	0	1	0	0
NME7	29922	broad.mit.edu	37	1	169267804	169267804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:169267804G>A	uc001gfu.3	-	5	876	c.638C>T	c.(637-639)tCt>tTt	p.S213F	NME7_uc001gft.3_Missense_Mutation_p.S177F|NME7_uc010plq.2_Non-coding_Transcript|NME7_uc001gfv.1_Missense_Mutation_p.S213F	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	213					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	p.S213Y(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCTGGCCGCAGAAGCAAAAGA	0.408000														75			35		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123969945	123969945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr10:123969945G>A	uc001lfv.3	+	8	6365	c.6005G>A	c.(6004-6006)gGc>gAc	p.G2002D	TACC2_uc001lfw.3_Missense_Mutation_p.G148D|TACC2_uc009xzx.3_Missense_Mutation_p.G1957D|TACC2_uc010qtv.2_Missense_Mutation_p.G2006D|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.G80D|TACC2_uc001lga.3_Missense_Mutation_p.G80D|TACC2_uc009xzy.3_Missense_Mutation_p.G80D|TACC2_uc001lgb.3_Missense_Mutation_p.G37D|TACC2_uc010qtw.1_Missense_Mutation_p.G97D	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2002	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCCCTGATGGCCCACGGAGC	0.572000														10			6		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637521	248637521	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:248637521G>A	uc001iel.1	+	0	870	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCTGTGCTGAACCCCCTCA	0.498000														243			35		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234894470	234894470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:234894470C>T	uc002vvh.3	+	20	2940	c.2900C>T	c.(2899-2901)aCc>aTc	p.T967I	TRPM8_uc010fyj.3_Missense_Mutation_p.T545I|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	967						integral to membrane		p.T967N(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGTTATCCACCAACATCCTG	0.567000														21			13		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43610140	43610140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr10:43610140G>A	uc001jal.3	+	10	2282	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	RET_uc001jak.1_Missense_Mutation_p.D698N|RET_uc010qez.1_Missense_Mutation_p.D444N	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	698					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCCCTCGCTGGACTCCATGGA	0.667000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					14			6		0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843393	137843393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:137843393C>T	uc003ers.2	-	2	938	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	246					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CACCTGAGGTCGCTCACCTCC	0.483000														52			22		0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45992717	45992717	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:45992717G>A	uc002pcb.3	-	5	1358	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	RTN2_uc002pcc.3_Silent_p.I303I|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	376	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCACGGACACGATGCTAAAGT	0.622000														5			7		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272653	233272653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:233272653G>A	uc002vss.4	+	4	627	c.574G>A	c.(574-576)Gac>Aac	p.D192N		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	192					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTCGGATGCCGACGTGCCTGC	0.662000														87			34		0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48089491	48089491	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:48089491C>T	uc003toh.4	+	5	734	c.522C>T	c.(520-522)gcC>gcT	p.A174A	C7orf57_uc003toi.4_Silent_p.A48A	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	174										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GGCTACCGGCCATTGACTCAA	0.483000														20			11		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010424	24010424	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:24010424T>G	uc002nrn.3	+	3	884	c.461T>G	c.(460-462)cTg>cGg	p.L154R		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	154					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GATTCTCCTCTGCGCTATGTG	0.542000														18			15		0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128046242	128046242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:128046242G>A	uc002toh.1	-	6	1116	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	ERCC3_uc002toe.1_Missense_Mutation_p.P96S|ERCC3_uc002tof.1_Missense_Mutation_p.P277S|ERCC3_uc002tog.1_Missense_Mutation_p.P277S|ERCC3_uc010flx.1_Missense_Mutation_p.P96S	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	341	Helicase ATP-binding.				DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTACCGCAGGGAAGAACAATG	0.527000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					464			184		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7334696	7334696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:7334696G>A	uc001mfe.3	+	2	805	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	190						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCAAAAACAGGAACAGTTGAC	0.413000														43			15		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688982	26688983	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:26688982_26688983GG>AA	uc003acb.3	+	1	901_902	c.705_706GG>AA	c.(703-708)gaggac>gaAAac	p.D236N	SEZ6L_uc003acd.3_Missense_Mutation_p.D236N|SEZ6L_uc011akd.2_Missense_Mutation_p.D236N|SEZ6L_uc003ace.3_Missense_Mutation_p.D236N|SEZ6L_uc011akc.2_Missense_Mutation_p.D236N|SEZ6L_uc003acc.3_Missense_Mutation_p.D236N|SEZ6L_uc003acf.1_Missense_Mutation_p.D9N|SEZ6L_uc010gvc.1_Missense_Mutation_p.D9N	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	236						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCCCCAGGAGGACACCAGCCC	0.634000														51			25		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499790	66499790	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:66499790G>T	uc004aee.1	+	0	600	c.600G>T	c.(598-600)aaG>aaT	p.K200N	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGCTGTGCAAGTCGCGCAAGG	0.597000														83			4		0.00307968	0.00309865	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410776	105410776	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:105410776T>A	uc010axc.1	-	6	11132	c.11012A>T	c.(11011-11013)gAt>gTt	p.D3671V	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D3571V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3671						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGACTCACATCGGCTTCCAC	0.582000														188			90		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593400	11593400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:11593400C>T	uc002gne.3	+	19	4329	c.4261C>T	c.(4261-4263)Cgg>Tgg	p.R1421W	DNAH9_uc010coo.3_Missense_Mutation_p.R715W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1421	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGATGAGGTCCGGGGCATTGT	0.562000														20			12		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448605	110448605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:110448605G>A	uc003yne.3	+	29	3648	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1182	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGCTTTAATGAAAATTCAAA	0.343000										HNSCC(38;0.096)				42			17		0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371051	33371051	+	Missense_Mutation	SNP	C	T	T	rs141493785	by1000genomes	TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr21:33371051C>T	uc002yph.3	+	10	2059	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	567					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTCTGTGGATCGCGACGACCA	0.602000														42			12		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73460543	73460543	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:73460543C>T	uc003tzw.3	+	10	658	c.567C>T	c.(565-567)atC>atT	p.I189I	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Silent_p.I189I|ELN_uc003tzy.3_Silent_p.I184I|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Silent_p.I189I|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Silent_p.I86I|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.I189I|ELN_uc003tzt.3_Silent_p.I194I|ELN_uc003tzu.3_Silent_p.I194I|ELN_uc003tzv.3_Silent_p.I179I|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.I179I|ELN_uc011kff.2_Silent_p.I189I	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	189					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTGCTGGAATCCCAGGTGAGG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							74			29		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118105	4118105	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:4118105G>A	uc003zhx.1	-	3	2086	c.1373C>T	c.(1372-1374)cCc>cTc	p.P458L	GLIS3_uc003zic.1_Missense_Mutation_p.P458L|GLIS3_uc003zie.1_Missense_Mutation_p.P458L|GLIS3_uc010mhh.1_Missense_Mutation_p.P333L|GLIS3_uc003zid.1_Missense_Mutation_p.P236L|GLIS3_uc010mhi.1_Missense_Mutation_p.P265L|GLIS3_uc003zif.1_Missense_Mutation_p.P236L|GLIS3_uc003zih.1_Missense_Mutation_p.P236L|GLIS3_uc003zig.1_Missense_Mutation_p.P302L|GLIS3_uc003zhw.1_Missense_Mutation_p.P303L|GLIS3_uc003zhy.1_Missense_Mutation_p.P236L|GLIS3_uc003zhz.1_Missense_Mutation_p.P236L|GLIS3_uc003zib.1_Missense_Mutation_p.P302L|GLIS3_uc010mhg.1_Missense_Mutation_p.P236L	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	303					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		Agggggtggggggcctggggg	0.736000														21			10		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753675	49753675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:49753675G>A	uc003ozu.3	-	0	1379	c.1226C>T	c.(1225-1227)cCt>cTt	p.P409L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	409					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCTACTCCAGGAAGGATTTT	0.453000														45			17		0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15045811	15045811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:15045811C>T	uc002dcy.4	+	7	982	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	NPIP_uc002dcx.4_Non-coding_Transcript	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.	328	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											GGATGATAATCTCAAGACACC	0.473000														153			13		0	0	1	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461434	10461434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:10461434G>A	uc021xwo.1	+	4	739	c.556G>A	c.(556-558)Gag>Aag	p.E186K	ROPN1L_uc003jex.4_Missense_Mutation_p.E186K	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	186					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						GTCTCCCTTGGAGACGGAATC	0.502000														84			46		0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296195	153296195	+	Missense_Mutation	SNP	G	A	A	rs62643611		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:153296195G>A	uc004fjv.2	-	3	1310	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	MECP2_uc004fjw.2_Missense_Mutation_p.P374S	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	362					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTTCTTGGGGGGTGAGGAG	0.657000														40			28		0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	25003716	25003716	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr20:25003716C>A	uc002wub.3	-	4	900	c.820G>T	c.(820-822)Gag>Tag	p.E274*	ACSS1_uc002wuc.3_Nonsense_Mutation_p.E274*|ACSS1_uc021wbm.1_Nonsense_Mutation_p.E274*|ACSS1_uc010gdc.3_Intron|ACSS1_uc002wua.3_Nonsense_Mutation_p.E191*|ACSS1_uc021wbl.1_Nonsense_Mutation_p.E153*|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	274					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding	p.K273*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACAGGGTCCTCCTTGGCCATT	0.602000														18			10		0.000673444	0.000678987	1	1	0
NFATC3	4775	broad.mit.edu	37	16	68156440	68156440	+	Silent	SNP	C	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr16:68156440C>A	uc002evo.2	+	1	970	c.654C>A	c.(652-654)ggC>ggA	p.G218G	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Silent_p.G218G|NFATC3_uc002evm.2_Silent_p.G218G|NFATC3_uc002evn.2_Silent_p.G218G|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	218	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTCCAGGGGGCTGCCCTGGAG	0.498000														69			33		3.90053e-15	3.9901e-15	1	1	0
MAP2	4133	broad.mit.edu	37	2	210559392	210559392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:210559392C>T	uc002vde.1	+	6	2746	c.2498C>T	c.(2497-2499)tCa>tTa	p.S833L	MAP2_uc002vdc.1_Missense_Mutation_p.S833L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S829L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	833					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGGAGGAAATCAGTCCCATCA	0.502000														76			45		0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47918590	47918590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:47918590C>T	uc004div.4	-	4	1493	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.R400Q|ZNF630_uc022bvs.1_Missense_Mutation_p.R414Q	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CTGTGTTTTCCGAGGGAAGGT	0.443000														18			15		0	0	1	0	0
SAP30	8819	broad.mit.edu	37	4	174292590	174292590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:174292590G>A	uc003itd.3	+	0	498	c.257G>A	c.(256-258)aGc>aAc	p.S86N		NM_003864	NP_003855	O75446	SAP30_HUMAN	Homo sapiens Sin3A-associated protein, 30kDa (SAP30), mRNA.	86	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GCCAGCTTCAGCAAGAGGATC	0.697000														47			29		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26239706	26239706	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:26239706C>T	uc003abz.1	+	17	3463	c.3213C>T	c.(3211-3213)tcC>tcT	p.S1071S	MYO18B_uc003aca.1_Silent_p.S952S|MYO18B_uc010guy.1_Silent_p.S953S|MYO18B_uc010guz.1_Silent_p.S952S|MYO18B_uc011aka.1_Silent_p.S225S|MYO18B_uc011akb.1_Silent_p.S584S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1071	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTCCAGGGTCCTCTGCCCTGC	0.577000														92			31		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105623742	105623742	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:105623742T>A	uc001pix.2	+	3	729	c.283T>A	c.(283-285)Ttt>Att	p.F95I	GRIA4_uc001piu.1_Missense_Mutation_p.F95I|GRIA4_uc001piw.2_Missense_Mutation_p.F95I|GRIA4_uc001piv.3_Missense_Mutation_p.F95I|GRIA4_uc009yxk.1_Missense_Mutation_p.F95I	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	95					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTTGCCATTTTTGGACTCTA	0.428000														52			21		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118715983	118715984	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:118715983_118715984GG>AA	uc002tlj.3	-	11	1130_1131	c.962_963CC>TT	c.(961-963)tcc>tTT	p.S321F	CCDC93_uc010fld.2_Missense_Mutation_p.S377F	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	321										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GTTTGTTCAAGGAAATGACTTT	0.406000														43			10		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40940743	40940743	+	Silent	SNP	C	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:40940743C>A	uc002ibj.3	+	10	2153	c.2085C>A	c.(2083-2085)acC>acA	p.T695T	WNK4_uc010wgx.2_Silent_p.T359T|WNK4_uc002ibk.1_Silent_p.T467T|WNK4_uc010wgy.1_Silent_p.T39T	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	695					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCTACAGACCCATAACAGCA	0.527000														48			36		1.30998e-17	1.34287e-17	1	1	0
TIMP4	7079	broad.mit.edu	37	3	12195890	12195890	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:12195890C>T	uc003bwo.3	-	3	925	c.414G>A	c.(412-414)gaG>gaA	p.E138E	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	138	NTR.						metal ion binding|metalloendopeptidase inhibitor activity	p.W137C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGACAGGTCCTCCCAGGGCT	0.498000														71			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498590	179498590	+	Silent	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:179498590T>C	uc021vsy.1	-	179	35157	c.34932A>G	c.(34930-34932)aaA>aaG	p.K11644K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5339K|TTN_uc021vta.1_Silent_p.K5272K|TTN_uc021vtb.1_Silent_p.K5147K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12571	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTTGAGCTTTTATCTGAG	0.428000														127			60		0	0	1	0	0
CDHR4	389118	broad.mit.edu	37	3	49836761	49836761	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:49836761C>T	uc010hkz.3	-	1	168	c.159G>A	c.(157-159)ctG>ctA	p.L53L	CDHR4_uc003cxp.2_Silent_p.L53L|CDHR4_uc011bcw.2_Silent_p.L53L	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	53					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TGAGCAACTCCAGGGTGGGTG	0.567000														14			6		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90438745	90438746	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:90438745_90438746CC>TT	uc003pnn.1	-	35	5369_5370	c.5253_5254GG>AA	c.(5251-5256)ctggag>ctAAag	p.E1752K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1752					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGGGAACCCTCCAGGAGAATGG	0.465000														40			19		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10931711	10931711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:10931711G>A	uc003mzo.3	+	19	1968	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	SYCP2L_uc010jow.3_Missense_Mutation_p.E178K	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	558						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CAGTGGCCATGAGAAAGACCA	0.363000														58			21		0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80196841	80196841	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:80196841G>A	uc003piy.3	-	8	2586	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	LCA5_uc003pix.3_Silent_p.F658F	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	658					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTTCACTGAGGAAAAAGCCTT	0.398000														58			20		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50737506	50737506	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:50737506G>A	uc003tpi.2	-	3	463	c.417C>T	c.(415-417)ccC>ccT	p.P139P	GRB10_uc003tph.3_Silent_p.P81P|GRB10_uc003tpj.2_Silent_p.P139P|GRB10_uc003tpk.2_Silent_p.P139P|GRB10_uc010kzb.2_Silent_p.P81P|GRB10_uc003tpl.2_Silent_p.P133P|GRB10_uc003tpm.2_Silent_p.P81P	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	139					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GAAAAGGATTGGGGATGGCCG	0.602000									Russell-Silver syndrome					21			8		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811423	7811423	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:7811423G>A	uc011bwk.1	-	8	1245	c.972C>T	c.(970-972)atC>atT	p.I324I	AFAP1_uc003gkg.1_Silent_p.I324I	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	324						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TGATCTTGGTGATTTTTTTCC	0.483000														38			19		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143185968	143185968	+	Missense_Mutation	SNP	C	T	T	rs146502252		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:143185968C>T	uc003evn.3	-	11	1589	c.1380G>A	c.(1378-1380)atG>atA	p.M460I		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	460					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TGGTAAACATCATTTGTTTGG	0.468000														42			19		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1904379	1904379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:1904379C>T	uc001aim.1	-	7	938	c.782G>A	c.(781-783)gGa>gAa	p.G261E	KIAA1751_uc009vkz.1_Missense_Mutation_p.G261E	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	261										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCCCTACCTTCCCAGGGAGGC	0.517000														11			5		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64532455	64532455	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:64532455C>T	uc003dmg.3	-	31	5075	c.5043G>A	c.(5041-5043)tgG>tgA	p.W1681*	ADAMTS9_uc011bfo.2_Nonsense_Mutation_p.W1653*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.W592*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1681	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCCAACTCTCCAGGTGGCCG	0.547000														60			34		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229096	3229096	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:3229096G>A	uc004crg.4	-	6	7305	c.7148C>T	c.(7147-7149)cCa>cTa	p.P2383L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2383	Ig-like C2-type 8.					extracellular region		p.S2382F(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTGTTGGTTGGGGACAACCA	0.522000														35			28		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303864	151303864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:151303864C>T	uc022cgz.1	-	0	229	c.229G>A	c.(229-231)Gat>Aat	p.D77N	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.D77N|MAGEA10_uc004ffm.2_Missense_Mutation_p.D77N|MAGEA10_uc004ffl.3_Missense_Mutation_p.D77N	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	77										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCATCATCAGCAGAAACC	0.542000														169			83		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88173915	88173915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:88173915G>A	uc003plv.3	+	12	1939	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.E418K|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	606										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGGAAAGAGCGAAATCACCGA	0.458000														37			13		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766771	88766771	+	Missense_Mutation	SNP	G	A	A	rs150973660	by1000genomes	TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:88766771G>A	uc021xpx.1	+	3	856	c.844G>A	c.(844-846)Gat>Aat	p.D282N	MEPE_uc021xpu.1_Missense_Mutation_p.D251N|MEPE_uc021xpv.1_Missense_Mutation_p.D138N|MEPE_uc021xpw.1_Missense_Mutation_p.D138N|MEPE_uc010ikn.3_Missense_Mutation_p.D138N|MEPE_uc003hqy.3_Missense_Mutation_p.D251N|MEPE_uc021xpy.1_Missense_Mutation_p.D138N	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	251					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGGGGACAATGATATATCTCC	0.423000														63			20		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87549127	87549127	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:87549127G>A	uc004aoa.1	+	15	2574	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	NTRK2_uc004any.1_Missense_Mutation_p.E546K|NTRK2_uc004anz.1_Missense_Mutation_p.E562K	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	546	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GGAGCTAGGCGAAGGAGCCTT	0.438000										TSP Lung(25;0.17)				22			15		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199091	118199091	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:118199091C>T	uc001two.2	-	3	679	c.624G>A	c.(622-624)ccG>ccA	p.P208P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	237	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.T207T(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGCGGGGGCGGGCACAAGC	0.721000														37			17		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128910	83128910	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:83128910G>T	uc004eei.1	+	3	1215	c.1194G>T	c.(1192-1194)aaG>aaT	p.K398N	CYLC1_uc004eeh.1_Missense_Mutation_p.K397N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	398					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACAAGAAAAAGGATGCAAAGA	0.343000														11			7		8.12818e-05	8.22895e-05	1	1	0
CCDC36	339834	broad.mit.edu	37	3	49293770	49293771	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:49293770_49293771CC>TT	uc003cwk.2	+	9	1227_1228	c.840_841CC>TT	c.(838-843)agcctc>agTTtc	p.L281F	CCDC36_uc011bck.1_Missense_Mutation_p.L281F	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	281										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGGCCCAGAGCCTCAATCTCAC	0.540000														45			12		0	0	1	0	0
GPHB5	122876	broad.mit.edu	37	14	63779790	63779790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:63779790C>T	uc021rud.1	-	3	299	c.242G>A	c.(241-243)cGa>cAa	p.R81Q		NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA.	82						extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GGTACAGACTCGATGATGGGC	0.483000														7			6		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22005154	22005154	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:22005154G>A	uc001rfh.3	-	21	2666	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	ABCC9_uc001rfi.1_Silent_p.I882I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	882	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCATGGCTATGATCTAAGGAA	0.358000														17			12		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18436211	18436211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:18436211C>T	uc003cbh.3	-	6	2684	c.949G>A	c.(949-951)Gtc>Atc	p.V317I	SATB1_uc003cbi.3_Missense_Mutation_p.V317I|SATB1_uc003cbj.3_Missense_Mutation_p.V317I	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	317					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGCTGGTTGACCAATTGAGGA	0.542000														73			9		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969392	140969392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:140969392C>T	uc011mwp.2	+	3	719	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	240	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGCATTTCCCTGACAGAA	0.473000														120			64		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105256	168105256	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:168105256G>A	uc002udx.3	+	8	7443	c.7354G>A	c.(7354-7356)Gat>Aat	p.D2452N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2277N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2230N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2277					actin cytoskeleton organization	cell junction	actin binding	p.S2451*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTCCCTGTCAGATATGGAATG	0.413000														75			37		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730325	140730325	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140730325A>C	uc003ljo.2	+	0	498	c.498A>C	c.(496-498)ttA>ttC	p.L166F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.L166F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	169	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGAAGTTATACACCATCA	0.428000														254			82		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98460854	98460854	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:98460854C>T	uc003upo.3	-	1	444	c.255G>A	c.(253-255)atG>atA	p.M85I	TMEM130_uc011kiq.2_Missense_Mutation_p.M66I|TMEM130_uc011kir.2_Missense_Mutation_p.M85I|TMEM130_uc003upn.3_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	85						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GACCCTTCTCCATCTTGCCAG	0.657000														39			16		0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5246867	5246867	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:5246867A>T	uc003bqi.3	+	5	1290	c.1158A>T	c.(1156-1158)aaA>aaT	p.K386N	EDEM1_uc011asz.1_Missense_Mutation_p.K164N|EDEM1_uc021wsl.1_Missense_Mutation_p.K191N	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	386					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TTGGAGAAAAAGAAGACCTAG	0.443000														47			28		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43096872	43096872	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:43096872C>T	uc011dve.1	+	1	303	c.261C>T	c.(259-261)ttC>ttT	p.F87F	PTK7_uc003oub.1_Silent_p.F79F|PTK7_uc003ouc.1_Silent_p.F79F|PTK7_uc003oud.1_Silent_p.F79F|PTK7_uc003oue.1_Silent_p.F79F|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc003oua.3_Silent_p.F79F	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	79	Ig-like C2-type 1.			F -> L (in Ref. 4; BAF85278).	actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCGGCGTTTCGCCCAGGGCA	0.662000														31			23		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138644105	138644105	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:138644105G>A	uc004fas.1	+	7	1290	c.1261G>A	c.(1261-1263)Ggg>Agg	p.G421R	F9_uc004fat.1_Missense_Mutation_p.G383R	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	421	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.G421R(4)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGAAGTGGAAGGGACCAGTTT	0.438000														88			37		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64522183	64522183	+	Silent	SNP	G	A	A	rs146289842		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:64522183G>A	uc001oax.4	-	7	1798	c.981C>T	c.(979-981)ttC>ttT	p.F327F	PYGM_uc001oay.4_Silent_p.F239F	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	327					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGAAGGCATCGAAGTTCGTGC	0.602000														23			3		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121744159	121744159	+	Silent	SNP	G	A	A	rs142856393	byFrequency	TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:121744159G>A	uc010flp.3	+	11	2292	c.2262G>A	c.(2260-2262)cgG>cgA	p.R754R	GLI2_uc002tmq.1_Silent_p.R426R|GLI2_uc002tmr.1_Silent_p.R409R|GLI2_uc002tmt.4_Silent_p.R426R|GLI2_uc002tmu.4_Silent_p.R409R|GLI2_uc002tmw.1_Silent_p.R737R	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	754					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CACACACGCGGAACACCAAGC	0.597000														39			14		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1081704	1081704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:1081704G>A	uc003jbu.3	-	8	1351	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	429					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTCACGGAAGGGAAGTAGATG	0.622000														51			17		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431672	89431672	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:89431672G>A	uc001pda.3	+	13	1760	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	412					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGCAAAGTGGACCCTTCCAA	0.483000														96			40		0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30784923	30784923	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:30784923G>A	uc001rjd.3	-	23	3270	c.2922C>T	c.(2920-2922)gcC>gcT	p.A974A	IPO8_uc010sjt.2_Silent_p.A769A|IPO8_uc001rje.1_Silent_p.A463A	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	974					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCTGGTACCAGGCTGCATCTC	0.522000														18			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229505	140229505	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140229505C>T	uc003lhu.2	+	0	2149	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.F475F	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	489	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACATCTTCACGGTGTCTG	0.657000														98			61		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943148	72943148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:72943148G>A	uc010wrr.2	+	5	1198	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	OTOP3_uc010wrq.2_Missense_Mutation_p.E382K	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	400						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					ACACGGGCTGGAGGAGAGAGA	0.592000														48			21		0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128850261	128850261	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:128850261G>A	uc003vor.3	+	8	1804	c.1524G>A	c.(1522-1524)gaG>gaA	p.E508E	SMO_uc003vos.3_Silent_p.E183E	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	508					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGACTGTGAGATCAAGAATC	0.552000			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			25		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923836	2923836	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:2923836C>T	uc010ckd.3	+	18	1788	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	RAP1GAP2_uc010cke.3_Silent_p.L551L	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	566					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GCTCGGGGCTCTTCCCCCGCC	0.632000														34			19		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrGL000205.1:117582C>T	uc002kgk.4	+	0		c.960C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000														23			9		0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515236	56515236	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:56515236C>T	uc001sjp.1	+	2	1079	c.890C>T	c.(889-891)cCc>cTc	p.P297L	ZC3H10_uc021qyw.1_Missense_Mutation_p.P297L	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	297							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			ACTCTGGCCCCCACTGTGGGC	0.547000														28			18		0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891668	45891668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:45891668C>T	uc010rgn.2	+	7	1344	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	CRY2_uc009ykw.3_Missense_Mutation_p.S359F|CRY2_uc010rgo.2_Missense_Mutation_p.S163F	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	420	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						ATGTGGCTGTCCTGCAGTGCT	0.567000														81			30		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183673091	183673091	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:183673091C>T	uc003ivd.1	+	18	3843	c.3768C>T	c.(3766-3768)gtC>gtT	p.V1256V	ODZ3_uc003ive.1_Silent_p.V669V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1256					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATGCAGAAGTCGTCGCAGGGA	0.537000														51			27		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690598	33690598	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:33690598A>T	uc002hjg.4	-	1	476	c.229T>A	c.(229-231)Tta>Ata	p.L77I	SLFN11_uc010ctr.3_Missense_Mutation_p.L77I|SLFN11_uc010ctp.3_Missense_Mutation_p.L77I|SLFN11_uc010ctq.3_Missense_Mutation_p.L77I|SLFN11_uc002hjh.4_Missense_Mutation_p.L77I	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	77						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACTGTTCTAAATCCAGTCCC	0.438000														111			58		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398043	111398043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr4:111398043G>A	uc003iab.4	+	0	815	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	158					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GTGCAAGTCCGGAGGTGTTTC	0.627000														165			70		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141039041	141039041	+	Silent	SNP	G	A	A	rs146842496		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:141039041G>A	uc003llm.3	-	22	3348	c.3270C>T	c.(3268-3270)atC>atT	p.I1090I	ARAP3_uc003lll.3_Silent_p.I41I|ARAP3_uc011dbe.2_Silent_p.I752I|ARAP3_uc003lln.3_Silent_p.I921I	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1090					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGAATCGATCTGTGAAA	0.532000														24			14		0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964251	3964251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:3964251C>T	uc002lzc.1	-	2	638	c.544G>A	c.(544-546)Gag>Aag	p.E182K	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Missense_Mutation_p.E182K|DAPK3_uc021umy.1_5'Flank	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	182	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACAAACTCCGGGGTGCCG	0.652000														15			10		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11280856	11280857	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:11280856_11280857GG>AA	uc002mqm.3	-	8	2382_2383	c.2303_2304CC>TT	c.(2302-2304)gcc>gTT	p.A768V	KANK2_uc021upe.1_Missense_Mutation_p.A760V|KANK2_uc002mqo.4_Missense_Mutation_p.A760V|KANK2_uc002mqp.1_Missense_Mutation_p.A569V	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	760										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCCTCACAGGCCAGCAGGGC	0.639000														45			29		0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444527	26444527	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:26444527T>C	uc003nhz.3	+	3	671	c.428T>C	c.(427-429)gTt>gCt	p.V143A	BTN3A3_uc011dkn.2_Missense_Mutation_p.V101A|BTN3A3_uc021ynh.1_Missense_Mutation_p.V101A	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	143						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GAGCTGAAGGTTGCAGGTGAG	0.488000														66			39		0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33585883	33585883	+	Silent	SNP	C	T	T	rs138878596	by1000genomes	TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:33585883C>T	uc002hjf.4	+	1	291	c.174C>T	c.(172-174)atC>atT	p.I58I	SLFN5_uc002hje.3_Silent_p.I58I|SLFN5_uc010wcg.2_Silent_p.I58I	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	58					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGGGCATAATCAAGGCTGAGA	0.478000														77			37		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454420	84454420	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:84454420T>C	uc001vlk.3	-	0	2109	c.1223A>G	c.(1222-1224)aAc>aGc	p.N408S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	408						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GATGTTATTGTTGCCCAGATC	0.458000														187			106		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123703	66123703	+	RNA	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:66123703C>T	uc002jgq.3	+	5		c.2826C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TCCCTTGGGGCTGGACTCCCG	0.572000														42			12		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141032134	141032134	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:141032134G>A	uc002tvj.1	-	84	13973	c.13001C>T	c.(13000-13002)tCa>tTa	p.S4334L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4334	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATGGTACATGATTCAGAATT	0.403000										TSP Lung(27;0.18)				35			11		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866313	139866313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:139866313C>T	uc004fbg.1	-	0	411	c.219G>A	c.(217-219)atG>atA	p.M73I	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	73	23 X 6 AA approximate repeats.							p.M73T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCCTCAAATCCATAGCTTCCG	0.453000														99			51		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48769852	48769852	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:48769852G>A	uc003xqi.3	-	49	6528	c.6471C>T	c.(6469-6471)cgC>cgT	p.R2157R	PRKDC_uc003xqj.3_Silent_p.R2157R	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2158					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCGCGTAAGGGCGAAAGACCT	0.418000								Non-homologous end-joining						22			12		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364949	29364950	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:29364949_29364950CC>TT	uc003nmf.4	+	0	534_535	c.473_474CC>TT	c.(472-474)tcc>tTT	p.S158F		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTGCTGCACTCCGTAATGACTT	0.485000														79			53		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608840	33608840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr19:33608840C>T	uc002nug.1	+	15	2620	c.2306C>T	c.(2305-2307)tCc>tTc	p.S769F	GPATCH1_uc002nuh.1_Missense_Mutation_p.S146F	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	769						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCCTCATCCTCCGAGGATGAG	0.532000														18			22		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21427477	21427477	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:21427477G>A	uc001rer.3	-	12	1970	c.1719C>T	c.(1717-1719)tcC>tcT	p.S573S	SLCO1A2_uc010siq.2_Silent_p.S441S|SLCO1A2_uc001res.3_Silent_p.S573S|SLCO1A2_uc010sio.2_Silent_p.S441S|SLCO1A2_uc010sip.2_Silent_p.S441S	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	573					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTAAACATGTGGAATCCATTA	0.353000														35			24		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75853081	75853081	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:75853081G>A	uc021zbv.1	-	24	4749	c.4714C>T	c.(4714-4716)Ctg>Ttg	p.L1572L	COL12A1_uc021zbw.1_Silent_p.L408L|COL12A1_uc003phs.3_Silent_p.L1572L|COL12A1_uc003pht.3_Silent_p.L408L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1572	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGAGTTTCAGATCCTGAGGT	0.428000														30			13		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122674734	122674734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:122674734G>A	uc009zxm.3	+	4	745	c.720G>A	c.(718-720)atG>atA	p.M240I	LRRC43_uc001ubw.4_Missense_Mutation_p.M55I|LRRC43_uc009zxn.3_Missense_Mutation_p.M1I	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	240										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCAGAGCATGGTCACCAGCC	0.647000														107			56		0	0	1	0	0
MBNL2	10150	broad.mit.edu	37	13	98009818	98009818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr13:98009818C>T	uc010aft.3	+	5	1703	c.887C>T	c.(886-888)cCc>cTc	p.P296L	MBNL2_uc001vmz.3_Missense_Mutation_p.P296L|MBNL2_uc001vna.3_Missense_Mutation_p.P296L|MBNL2_uc001vnb.3_Non-coding_Transcript|MBNL2_uc010tij.2_Missense_Mutation_p.P141L|MBNL2_uc001vnc.3_Missense_Mutation_p.P29L	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 1, mRNA.	296					RNA splicing|mRNA processing|regulation of RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			GTCTTTAACCCCAGCGTCTTG	0.522000														80			35		0	0	1	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														181			7		0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89698693	89698693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr15:89698693C>T	uc002bnj.2	+	8	1384	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	ABHD2_uc002bnk.2_Missense_Mutation_p.R156W	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	156						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAATGGCTATCGGTGCGCCGT	0.517000														68			53		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112751911	112751911	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:112751911G>A	uc002thk.1	+	8	1502	c.1380G>A	c.(1378-1380)agG>agA	p.R460R	MERTK_uc002thl.1_Silent_p.R284R	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	460	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCACAGTGAGGATTGCAGCCG	0.527000														134			53		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4926878	4926878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr17:4926878C>T	uc002gan.2	+	22	3101	c.2744C>T	c.(2743-2745)tCg>tTg	p.S915L		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	915					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGGCCCCCCTCGCCACCACTG	0.667000														51			15		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13736124	13736124	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:13736124C>T	uc001mld.3	+	8	1179	c.1024C>T	c.(1024-1026)Cta>Tta	p.L342L		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	342					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CAATGTAAATCTAACCTCCAA	0.423000														19			11		0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44108668	44108668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr20:44108668C>T	uc002xoo.3	+	2	338	c.310C>T	c.(310-312)Cct>Tct	p.P104S	WFDC2_uc002xoq.3_Non-coding_Transcript|WFDC2_uc002xop.3_Missense_Mutation_p.P56S|WFDC2_uc002xor.3_Missense_Mutation_p.P53S	NM_006103	NP_006094	Q14508	WFDC2_HUMAN	Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.	104	WAP 2.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CAGCCAGTGTCCTGGCCAGAT	0.542000														118			61		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	98165	98165	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrGL000209.1:98165G>T	uc002qul.2	+	0	54	c.20G>T	c.(19-21)aGc>aTc	p.S7I	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_012313	NP_036445	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA.	7					regulation of immune response	integral to membrane|plasma membrane	receptor activity										ATGGTCATCAGCATGGCGTGT	0.617000														26			3		1	1	1	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045530	142045530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:142045530G>A	uc003vxp.4	+	1	167	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGTCCCCATGGAAACGGGAGT	0.473000														99			26		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272041	1272041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:1272041G>A	uc001lta.3	+	30	13990	c.13931G>A	c.(13930-13932)gGg>gAg	p.G4644E		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4644	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		tccatcccggggaccacccac	0.622000														43			12		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153223312	153223312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:153223312G>A	uc004fjp.3	-	11	2582	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	685	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGACCACCGACATCACTTT	0.532000														80			28		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367224	248367224	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:248367224G>A	uc010pzg.2	+	0	855	c.855G>A	c.(853-855)ttG>ttA	p.L285L		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCCCATGTTGAATCCCCTCA	0.478000														87			56		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331687	85331687	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:85331687A>C	uc001dkl.2	-	0	156	c.117T>G	c.(115-117)ttT>ttG	p.F39L	LPAR3_uc009wcj.1_Missense_Mutation_p.F39L	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	39					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		p.T38M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACAGGCAGAAAAACGTCCCAA	0.378000														48			42		0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156729226	156729226	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:156729226G>A	uc021xgh.1	+	9	1248	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	83										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTCACATCAGAAAAGCATCG	0.443000														25			12		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553230	106553230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:106553230C>T	uc003prd.2	+	4	1429	c.1195C>T	c.(1195-1197)Ccg>Tcg	p.P399S	PRDM1_uc003pre.3_Missense_Mutation_p.P265S	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	399					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GCCCCACCTCCCGCCAGCTTT	0.602000			"""D, N, Mis, F, S"""		DLBCL									40			24		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207106358	207106358	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr1:207106358C>T	uc001hez.3	-	6	2043	c.1859G>A	c.(1858-1860)gGg>gAg	p.G620E	PIGR_uc009xbz.3_Missense_Mutation_p.G620E	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	620						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCTCTGCTCCCATCGGCTTG	0.557000														67			30		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94782360	94782360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:94782360G>A	uc003kla.1	+	7	1034	c.988G>A	c.(988-990)Ggc>Agc	p.G330S	FAM81B_uc010jbe.1_Missense_Mutation_p.G126S	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	330										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGACCACCTGGGCCATATAAA	0.373000														38			13		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37523022	37523022	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:37523022C>G	uc003chd.3	+	3	521	c.468C>G	c.(466-468)atC>atG	p.I156M	ITGA9_uc003chc.3_Missense_Mutation_p.I156M	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	156					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCGACCACATCCTACCCCATG	0.512000														59			36		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52538855	52538855	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:52538855C>T	uc003dej.3	+	11	1414	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	STAB1_uc003dei.1_Missense_Mutation_p.A447V	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	447	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGGACGCTGGCCGGGCAGGAG	0.602000														34			5		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44815549	44815549	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr20:44815549G>A	uc002xrm.2	-	7	1860	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	CDH22_uc010ghk.1_Silent_p.I487I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	487	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCAGGATTCGGATCCTTAGGG	0.567000														138			70		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954541	70954541	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:70954541G>A	uc001swb.4	-	14	3718	c.3688C>T	c.(3688-3690)Caa>Taa	p.Q1230*	PTPRB_uc010sto.2_Nonsense_Mutation_p.Q1140*|PTPRB_uc010stp.2_Nonsense_Mutation_p.Q1140*|PTPRB_uc001swc.4_Nonsense_Mutation_p.Q1448*|PTPRB_uc001swa.4_Nonsense_Mutation_p.Q1360*|PTPRB_uc001swd.4_Nonsense_Mutation_p.Q1447*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.Q1327*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1230	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAAGGCCTTGAAACCGCCAC	0.493000														17			9		0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68725707	68725707	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:68725707C>T	uc004dxk.3	+	0	630	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	194						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TTCGGAACTTCACTCTCTCCT	0.637000														64			29		0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37271770	37271770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr22:37271770G>A	uc003apy.4	+	7	887	c.703G>A	c.(703-705)Gac>Aac	p.D235N	NCF4_uc003apz.4_Missense_Mutation_p.D235N	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	235					cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity	p.D234D(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGAGGAGGACGACCCCACCAA	0.597000														87			34		0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38275492	38275492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr8:38275492G>A	uc022aua.1	-	10	2390	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.P514L|FGFR1_uc011lbv.2_Missense_Mutation_p.P481L|FGFR1_uc011lbw.2_Missense_Mutation_p.P394L|FGFR1_uc003xlp.3_Missense_Mutation_p.P481L|FGFR1_uc022aub.1_Missense_Mutation_p.P481L|FGFR1_uc022auc.1_Missense_Mutation_p.P394L|FGFR1_uc022aud.1_Missense_Mutation_p.P392L|FGFR1_uc010lwk.3_Missense_Mutation_p.P473L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	483	Protein kinase.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTCTCCCAGGGGTTTGCCTAA	0.552000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							54			23		0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30920134	30920134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:30920134C>T	uc003nsg.2	+	1	3893	c.3893C>T	c.(3892-3894)cCa>cTa	p.P1298L		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	422						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAGAGCCATCCATACCTCAAT	0.473000														59			22		0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468246	56468246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:56468246C>T	uc010rjn.2	+	0	383	c.383C>T	c.(382-384)cCc>cTc	p.P128L	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										ATCTCCAAGCCCCTGCTTTAT	0.517000														129			30		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193050	139193050	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:139193050C>T	uc003leu.1	+	2	733	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	176					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTCAGCTTCGAGGCCCCCC	0.657000														55			22		0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163235304	163235304	+	Silent	SNP	C	T	T	rs76289683		TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:163235304C>T	uc003qua.3	+	2	506	c.282C>T	c.(280-282)atC>atT	p.I94I	PACRG_uc003qub.3_Silent_p.I94I|PACRG_uc003quc.3_Silent_p.I94I	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	94										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GAAACAAAATCGCCTGGAAGG	0.478000														68			37		0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116988313	116988313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr6:116988313G>A	uc003pxf.2	-	1	303	c.43C>T	c.(43-45)Cca>Tca	p.P15S	ZUFSP_uc010kef.2_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	15						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTCATGTCTGGTTCTGAGGTT	0.328000														57			25		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117744304	117744304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chrX:117744304C>T	uc004eqp.2	+	27	3082	c.3019C>T	c.(3019-3021)Ccc>Tcc	p.P1007S	DOCK11_uc004eqq.2_Missense_Mutation_p.P773S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1007					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGCAATAATTCCCCATGTGAC	0.443000														66			22		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927711	38927711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr3:38927711C>T	uc021wvy.1	-	15	3053	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	SCN11A_uc010hhn.1_Intron	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	952					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTCTTGTTCTCCTGATGGAGC	0.433000														20			5		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123812483	123812483	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr9:123812483C>T	uc004bkv.3	-	0	72	c.42G>A	c.(40-42)ggG>ggA	p.G14G	C5_uc010mvm.1_Silent_p.G14G|C5_uc010mvn.1_Silent_p.G14G	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	14					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CCCAGGTTTTCCCCAGGAAGA	0.373000														112			9		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61305045	61305045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr18:61305045C>T	uc002ljf.3	-	7	1167	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	SERPINB3_uc002lje.3_Missense_Mutation_p.E340K|SERPINB3_uc002ljg.3_Missense_Mutation_p.E361K	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	361					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CAGAACTCTTCATTAGTTGAA	0.448000														87			30		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192201	125192201	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:125192201C>T	uc010flu.3	+	4	1034	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	CNTNAP5_uc002tno.3_Nonsense_Mutation_p.Q224*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	224	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGAGAAGGTCAGCGTGGAGA	0.512000														25			20		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62375218	62375218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:62375218G>A	uc010rly.1	-	10	1590	c.1282C>T	c.(1282-1284)Cac>Tac	p.H428Y	EML3_uc001ntr.1_Missense_Mutation_p.H400Y|EML3_uc001nts.1_Missense_Mutation_p.H400Y|EML3_uc001ntt.1_Missense_Mutation_p.H312Y|EML3_uc001ntu.1_Missense_Mutation_p.H428Y|EML3_uc009yny.1_Missense_Mutation_p.H211Y			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	428						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAGTGGACGTGAGATTTCCCA	0.537000														58			26		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803714	27803714	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:27803714G>A	uc002rkz.4	+	0	4326	c.4275G>A	c.(4273-4275)gaG>gaA	p.E1425E	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1425										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTAAGCAGGAGGACATATTGT	0.502000														45			46		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529513	57529513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr7:57529513C>T	uc011kdi.1	+	3	1458	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACCTTCTCCTCAACTCTAAAT	0.368000														12			8		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432772	152432772	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:152432772A>T	uc021vrb.1	-	76	11727	c.11698T>A	c.(11698-11700)Ttt>Att	p.F3900I	NEB_uc002txr.3_Missense_Mutation_p.F366I|NEB_uc002txu.3_Missense_Mutation_p.F5601I|NEB_uc021vrc.1_Missense_Mutation_p.F5601I|NEB_uc010fnx.3_Missense_Mutation_p.F3888I|NEB_uc021vrd.1_Missense_Mutation_p.F3900I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3900					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGTCACAAAAGATATTCTGG	0.478000														60			31		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202425	140202425	+	Silent	SNP	C	T	T			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr5:140202425C>T	uc003lhl.2	+	0	1065	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.F355F|PCDHAC2_uc003lhj.1_Silent_p.F355F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	371	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCCTTTTCCTGCCTGTCA	0.498000														63			38		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502142	91502142	+	Silent	SNP	G	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr12:91502142G>A	uc001tbm.3	-	1	1004	c.615C>T	c.(613-615)gtC>gtT	p.V205V		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	205					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGAAGAGAGACAGGGAGAC	0.408000														103			37		0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28521300	28521301	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr2:28521300_28521301insA	uc002rls.3	+	10	1282_1283	c.1030_1031insA	c.(1030-1032)caafs	p.Q344fs	BRE_uc002rlp.1_Frame_Shift_Ins_p.Q344fs|BRE_uc002rlq.3_Frame_Shift_Ins_p.Q344fs|BRE_uc002rlr.3_Frame_Shift_Ins_p.Q344fs|BRE_uc002rlt.3_Frame_Shift_Ins_p.Q344fs|BRE_uc002rlu.3_Frame_Shift_Ins_p.Q344fs|BRE_uc002rlv.3_Frame_Shift_Ins_p.Q206fs	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	344	UEV-like 2.				G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CTCCCAGGCCCAAAAAAATTAT	0.446													---	56	---	---	33	---					
STX5	6811	broad.mit.edu	37	11	62598585	62598585	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FW-A3TV-06A-11D-A23B-08	TCGA-FW-A3TV-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d09bfba-5cac-44ee-a834-e23601d91b86	dc2822ca-bd08-42ae-8a3f-5deb05fdefa9	g.chr11:62598585delG	uc001nvh.3	-	1	288	c.131delC	c.(130-132)ccafs	p.P44fs	STX5_uc010rmj.2_Frame_Shift_Del_p.P44fs|STX5_uc010rmi.2_Intron	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	44					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus	SNAP receptor activity|protein N-terminus binding	p.V45fs*38(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GAGGGTCACTGGGGGGGGCAG	0.632													---	4	---	---	2	---