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
CHD5	26038	broad.mit.edu	37	1	6189059	6189059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:6189059G>A	uc001amb.2	-	22	3569	c.3458C>T	c.(3457-3459)tCg>tTg	p.S1153L	CHD5_uc001alz.2_Missense_Mutation_p.S10L|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1153	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.S1153L(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCCTCCACCGAGGCCCGAGT	0.662												
LCK	3932	broad.mit.edu	37	1	32741519	32741519	+	Silent	SNP	G	G	A	rs1126767	byFrequency	TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:32741519G>A	uc001bux.3	+	6	624	c.486G>A	c.(484-486)tcG>tcA	p.S162S	LCK_uc001buy.3_Silent_p.S162S|LCK_uc001buz.3_Silent_p.S162S|LCK_uc010ohc.1_Silent_p.S206S|LCK_uc001bva.3_Silent_p.S220S	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	162	Interaction with PTPRH.|SH2.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.S162S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ATTCAGGATCGTTTTCACTGT	0.562			T	TRB@	T-ALL							
PRPF38A	84950	broad.mit.edu	37	1	52880488	52880488	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:52880488C>G	uc001ctv.4	+	7	1007	c.804C>G	c.(802-804)agC>agG	p.S268R	PRPF38A_uc001ctw.4_Missense_Mutation_p.A79G	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing A (PRPF38A), mRNA.	268	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GTCACCGCAGCAGGTCCCGAG	0.527												
DNAJC6	9829	broad.mit.edu	37	1	65852503	65852503	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:65852503G>A	uc001dce.1	+	7	1205	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	DNAJC6_uc001dcc.1_Missense_Mutation_p.R309H|DNAJC6_uc001dcd.1_Missense_Mutation_p.R278H|DNAJC6_uc010opc.1_Missense_Mutation_p.R265H	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	278	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGAGAATATCGTGTCCAAGAT	0.438												
SLC6A17	388662	broad.mit.edu	37	1	110709512	110709512	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:110709512G>A	uc009wfq.3	+	1						NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.						alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CATCTTCTCTGTGTGCTGGGG	0.547												
NOTCH2NL	100132406	broad.mit.edu	37	1	145273265	145273265	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:145273265G>A	uc001emn.4	+	2	489	c.119G>A	c.(118-120)tGt>tAt	p.C40Y	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.C40Y|NOTCH2NL_uc001emo.2_Missense_Mutation_p.C40Y|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	40	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.T39N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GGTGGGACTTGTGTGGCCCAG	0.532												
SPTA1	6708	broad.mit.edu	37	1	158618368	158618368	+	Silent	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:158618368C>G	uc001fst.1	-	25	3844	c.3645G>C	c.(3643-3645)ctG>ctC	p.L1215L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1215					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L1215M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACACTGAACAGATCTGAGC	0.507												
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:158627401G>A	uc001fst.1	-	18	2870	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	891					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R891*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463												
F5	2153	broad.mit.edu	37	1	169512354	169512354	+	Splice_Site	SNP	T	T	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:169512354T>G	uc001ggg.1	-	13	2121	c.1976_splice	c.e13-1	p.G659_splice		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	659	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCAAGTTCCTACAGAAGAGA	0.383												
TNN	63923	broad.mit.edu	37	1	175048687	175048687	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:175048687G>A	uc001gkl.1	+	2	741	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	TNN_uc010pmx.1_Missense_Mutation_p.G210S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	210	EGF-like 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCGGACACGGCGAGTGCGT	0.701												
CAMSAP2	23271	broad.mit.edu	37	1	200784743	200784743	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:200784743C>G	uc001gvl.3	+	3	886	c.616C>G	c.(616-618)Cac>Gac	p.H206D	CAMSAP2_uc001gvk.3_Missense_Mutation_p.H206D|CAMSAP2_uc001gvm.3_Missense_Mutation_p.H206D	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	206						cytoplasm|microtubule	protein binding										GAAAGAACATCACACAGTTGA	0.269												
CD46	4179	broad.mit.edu	37	1	207930949	207930949	+	Silent	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:207930949C>T	uc001hgc.3	+	2	526	c.351C>T	c.(349-351)taC>taT	p.Y117Y	CD46_uc001hgg.3_Silent_p.Y117Y|CD46_uc001hgh.3_Silent_p.Y117Y|CD46_uc001hgi.3_Silent_p.Y117Y|CD46_uc001hgj.3_Silent_p.Y117Y|CD46_uc001hgm.3_Silent_p.Y117Y|CD46_uc001hgl.3_Silent_p.Y117Y|CD46_uc001hgp.3_Silent_p.Y117Y	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	117	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	p.Y117*(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						ATGGGACTTACGAGTTTGGTT	0.358												
OR52R1	119695	broad.mit.edu	37	11	4824947	4824947	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:4824947C>T	uc021qcs.1	-	0	664	c.664G>A	c.(664-666)Gtg>Atg	p.V222M		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V222V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAATCATCACGTATGACATA	0.473												
ARFGAP2	84364	broad.mit.edu	37	11	47196824	47196824	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:47196824G>C	uc001ndt.3	-	3	577	c.305C>G	c.(304-306)gCc>gGc	p.A102G	ARFGAP2_uc010rha.2_5'Flank|ARFGAP2_uc010rhb.2_Missense_Mutation_p.A102G|ARFGAP2_uc001ndu.3_Intron|ARFGAP2_uc010rhc.2_Intron|ARFGAP2_uc010rhd.2_Missense_Mutation_p.A102G	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	102	Arf-GAP.|Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TTTGGTGTTGGCATCATTGGC	0.542												
OR9G9	504191	broad.mit.edu	37	11	56467865	56467865	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:56467865T>A	uc010rjn.2	+	1	1	c.1_splice	c.e1-1	p.M1_splice	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CTTACAGCCATGCAGAGGAGC	0.453												
MS4A1	931	broad.mit.edu	37	11	60233626	60233626	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:60233626T>A	uc009yna.3	+	4	896	c.569T>A	c.(568-570)tTc>tAc	p.F190Y	MS4A1_uc009ymz.3_Missense_Mutation_p.F190Y|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.F190Y|MS4A1_uc001npq.3_Missense_Mutation_p.F190Y	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	190					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAATCTCTGTTCTTGGTAAGT	0.418												
NAALADL1	10004	broad.mit.edu	37	11	64822202	64822202	+	Silent	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:64822202G>A	uc001ocn.3	-	4	628	c.612C>T	c.(610-612)aaC>aaT	p.N204N	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	204					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCTTGGCAGCGTTCACAGCCT	0.597												
FLI1	2313	broad.mit.edu	37	11	128628186	128628186	+	Silent	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:128628186C>T	uc010sbu.2	+	1	538	c.195C>T	c.(193-195)aaC>aaT	p.N65N	FLI1_uc010sbt.2_5'UTR|FLI1_uc010sbv.2_Silent_p.N32N|FLI1_uc009zci.3_5'UTR|FLI1_uc001qen.3_Silent_p.N32N	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	65					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TGAGGGTCAACGTCAAGCGGG	0.587			T	EWSR1	Ewing sarcoma							
CPNE8	144402	broad.mit.edu	37	12	39124093	39124093	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr12:39124093C>T	uc001rls.1	-	10	874	c.790G>A	c.(790-792)Gta>Ata	p.V264I		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	264										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACCTCATATACGTTGAATTGT	0.308												
RACGAP1	29127	broad.mit.edu	37	12	50388234	50388234	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr12:50388234T>A	uc001rvt.2	-	12	1413	c.1103A>T	c.(1102-1104)cAt>cTt	p.H368L	RACGAP1_uc009zlm.1_Missense_Mutation_p.H368L|RACGAP1_uc001rvs.2_Missense_Mutation_p.H368L|RACGAP1_uc001rvu.2_Missense_Mutation_p.H368L	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	368	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ATTTACACAATGCACAACAAT	0.378												
HCAR1	27198	broad.mit.edu	37	12	123214503	123214503	+	Silent	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr12:123214503G>A	uc001ucz.3	-	0	627	c.384C>T	c.(382-384)tcC>tcT	p.S128S	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	128					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CCACCCGGGTGGAGATAGTGT	0.602												
RNF17	56163	broad.mit.edu	37	13	25442748	25442748	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr13:25442748C>T	uc001upr.3	+	30	4213	c.4172C>T	c.(4171-4173)tCg>tTg	p.S1391L	RNF17_uc010tde.2_Missense_Mutation_p.S1387L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.S1330L|RNF17_uc010aac.3_Missense_Mutation_p.S583L|RNF17_uc010aad.3_Missense_Mutation_p.S401L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1391					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAATTGCTTTCGGCTGAAACA	0.368												
SERPINA3	12	broad.mit.edu	37	14	95090098	95090098	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr14:95090098G>A	uc001ydp.3	+	4	1378	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	SERPINA3_uc001ydo.4_Missense_Mutation_p.D432N|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.D407N|SERPINA3_uc001yds.3_Missense_Mutation_p.D407N	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	407			D -> G (in dbSNP:rs10956).		acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.D407N(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGTCCCTACAGACACCCAGAA	0.493												
KIF26A	26153	broad.mit.edu	37	14	104643009	104643009	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr14:104643009G>A	uc001yos.4	+	11	3884	c.3884G>A	c.(3883-3885)cGc>cAc	p.R1295H		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1295					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGGCGGCCCGCAGGCCAGAG	0.701												
HEXA	3073	broad.mit.edu	37	15	72645470	72645470	+	Missense_Mutation	SNP	C	C	T	rs121907957		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr15:72645470C>T	uc002aun.4	-	4	716	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.R181Q|HEXA_uc010bix.3_Missense_Mutation_p.R170Q|HEXA_uc010biy.2_Missense_Mutation_p.R33Q|HEXA_uc010uko.1_Intron	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	170			R -> Q (in GM2G1; infantile; inactive or unstable protein).|R -> W (in GM2G1; infantile).		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CAGCAAGCCCCGGTGAGGAAA	0.468												
ADAMTS17	170691	broad.mit.edu	37	15	100692957	100692957	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr15:100692957T>C	uc002bvv.1	-	9	1412	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G	ADAMTS17_uc002bvx.1_Missense_Mutation_p.S202G	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	445	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AAGCAGGTGCTGACTTTTGAC	0.488												
LCAT	3931	broad.mit.edu	37	16	67973970	67973971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr16:67973970_67973971insG	uc002euy.1	-	5	1170_1171	c.1159_1160insC	c.(1159-1161)cagfs	p.Q387fs		NM_000229	NP_000220	P04180	LCAT_HUMAN	Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.	387					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGGCTGTGGCTGGCGGCCCTGC	0.629												
CDH1	999	broad.mit.edu	37	16	68856093	68856093	+	Missense_Mutation	SNP	C	C	T	rs121964878		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr16:68856093C>T	uc002ewg.1	+	11	2025	c.1901C>T	c.(1900-1902)gCg>gTg	p.A634V	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.A573V	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	634	Cadherin 5.		A -> V (found in a gastric cancer sample; cells exhibited decreased aggregation increased invasiveness and non-uniform migration in vitro compared to cells transfected with wild-type sequence).	ASA -> RVP (in Ref. 3; AAA61259).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.A634V(6)|p.G633fs*21(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACACACGGGGCGAGTGCCAAC	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer			
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
NF1	4763	broad.mit.edu	37	17	29497003	29497003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr17:29497003C>T	uc002hgg.3	+	4	957	c.574C>T	c.(574-576)Cga>Tga	p.R192*	NF1_uc002hge.2_Nonsense_Mutation_p.R192*|NF1_uc002hgf.2_Nonsense_Mutation_p.R192*|NF1_uc002hgh.3_Nonsense_Mutation_p.R192*|NF1_uc010csn.2_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	192					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R192*(4)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTAAAACGACTCCTGAA	0.284			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
NF1	4763	broad.mit.edu	37	17	29552164	29552164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr17:29552164delG	uc002hgg.3	+	16	2280	c.1897delG	c.(1897-1899)gatfs	p.D633fs	NF1_uc002hgh.3_Frame_Shift_Del_p.D633fs|NF1_uc010csn.2_Frame_Shift_Del_p.D493fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	633					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.D633fs*55(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTAGGATGTGATATTCCTTC	0.413			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
EVPL	2125	broad.mit.edu	37	17	74005931	74005931	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr17:74005931G>A	uc010wss.1	-	21	3649	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	EVPL_uc002jqi.2_Missense_Mutation_p.R1119C|EVPL_uc010wst.1_Missense_Mutation_p.R589C	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1119	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTTCGATGCGAGCCTGTAGC	0.627												
DSG2	1829	broad.mit.edu	37	18	29101206	29101206	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr18:29101206C>T	uc002kwu.4	+	5	711	c.523_splice	c.e5+1	p.H175_splice		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	175	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GAGTGCAGCACGTAAGAGTCt	0.333												
ZNF271	10778	broad.mit.edu	37	18	32886618	32886618	+	Silent	SNP	T	T	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr18:32886618T>G	uc002kyq.4	+	2	1022	c.30T>G	c.(28-30)gcT>gcG	p.A10A	ZNF271_uc002kyp.4_Silent_p.A10A|ZNF271_uc002kyr.4_Silent_p.A10A					Homo sapiens zinc finger protein 271 (ZNF271), transcript variant 1, non-coding RNA.											large_intestine(3)|lung(9)	12						CAGTCAGAGCTCAGATCTTAT	0.378												
AP3D1	8943	broad.mit.edu	37	19	2110727	2110727	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:2110727C>T	uc002lva.3	-	26	3377	c.3154G>A	c.(3154-3156)Gtg>Atg	p.V1052M	AP3D1_uc010dsv.3_Missense_Mutation_p.V80M|AP3D1_uc002luy.3_Missense_Mutation_p.V949M|AP3D1_uc002luz.3_Missense_Mutation_p.V990M	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	990					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAAAGGCACGGGGACGCCA	0.687												
ACTL9	284382	broad.mit.edu	37	19	8807914	8807914	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:8807914C>T	uc002mkl.2	-	0	1259	c.1138G>A	c.(1138-1140)Gta>Ata	p.V380I		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	380						cytoplasm|cytoskeleton		p.S379F(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCGATCCATACGGAGAAATTC	0.662												
RYR1	6261	broad.mit.edu	37	19	38964245	38964245	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:38964245G>A	uc002oit.3	+	27	4124	c.3994G>A	c.(3994-3996)Gaa>Aaa	p.E1332K	RYR1_uc002oiu.3_Missense_Mutation_p.E1332K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1332	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGACTACGAAAACCTGCG	0.746												
RYR1	6261	broad.mit.edu	37	19	39076773	39076773	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:39076773A>G	uc002oit.3	+	103	15041	c.14911A>G	c.(14911-14913)Acg>Gcg	p.T4971A	RYR1_uc002oiu.3_Missense_Mutation_p.T4966A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4971					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTACTTTGATACGACACCGCA	0.557												
CYP2F1	1572	broad.mit.edu	37	19	41630676	41630676	+	Silent	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:41630676G>A	uc002opu.1	+	7	1073	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	CYP2F1_uc010xvv.1_Missense_Mutation_p.R320H|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	339					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGCTGCCGGCGCTGAAGGACC	0.672												
CCDC155	147872	broad.mit.edu	37	19	49900952	49900952	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:49900952G>T	uc002pnm.2	+	5	650	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	CCDC155_uc002pnl.2_Missense_Mutation_p.G149C|CCDC155_uc010emx.2_Missense_Mutation_p.G122C	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	149						integral to membrane	calcium ion binding	p.G148R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GAGCTTCGGAGGCGAAGACCC	0.622												
TMC4	147798	broad.mit.edu	37	19	54667515	54667515	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:54667515C>A	uc010erf.3	-	7	1368	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	TMC4_uc002qdn.3_Missense_Mutation_p.A103S|TMC4_uc002qdo.3_Missense_Mutation_p.K406N	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	412						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGCAATGAGCTTGAACACGG	0.562											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
SLC30A3	7781	broad.mit.edu	37	2	27481034	27481034	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr2:27481034C>T	uc002rjk.3	-	2	605	c.419G>A	c.(418-420)cGt>cAt	p.R140H	SLC30A3_uc002rjj.3_5'UTR|SLC30A3_uc010ylh.2_Missense_Mutation_p.R135H	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	140					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTACCTGAACGGTGCCAGCC	0.642												
CTNNA2	1496	broad.mit.edu	37	2	79971613	79971613	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr2:79971613C>G	uc010ysh.2	+	1	208	c.203C>G	c.(202-204)aCt>aGt	p.T68S	CTNNA2_uc010yse.2_Missense_Mutation_p.T68S|CTNNA2_uc010ysf.2_Missense_Mutation_p.T68S|CTNNA2_uc010ysg.2_Missense_Mutation_p.T68S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	68					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGCAAGCCACTCAGAATTTC	0.473												
PSD4	23550	broad.mit.edu	37	2	113942578	113942578	+	Silent	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr2:113942578C>T	uc002tjc.3	+	2	1284	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D366D|PSD4_uc002tjf.3_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	367					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						cgtgtgtggacgaagcattga	0.547												
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	A	G	rs115341812	by1000genomes	TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567												
BFSP1	631	broad.mit.edu	37	20	17489628	17489628	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr20:17489628G>A	uc002wpo.3	-	4	680	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BFSP1_uc002wpp.3_Missense_Mutation_p.T89M|BFSP1_uc010zrn.2_Missense_Mutation_p.T75M|BFSP1_uc010zro.2_Missense_Mutation_p.T75M	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	214	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCCCGCTCCGTCAGGAGCTT	0.647												
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr21:46011400G>A	uc002zfm.3	-	0	987	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	322	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.S322S(10)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692												
SEMA3F	6405	broad.mit.edu	37	3	50211752	50211752	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:50211752G>T	uc003cyj.3	+	4	623	c.425G>T	c.(424-426)tGc>tTc	p.C142F	SEMA3F_uc003cyk.3_Missense_Mutation_p.C142F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	142	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AACCCCATGTGCACCTATGTG	0.662												
STAB1	23166	broad.mit.edu	37	3	52551965	52551965	+	Silent	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:52551965C>T	uc003dej.3	+	44	4781	c.4707C>T	c.(4705-4707)tgC>tgT	p.C1569C	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1569	EGF-like 13.				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)		CATGTACCTGCGACACAGCCC	0.602												
STXBP5L	9515	broad.mit.edu	37	3	120976020	120976020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:120976020C>T	uc003eec.4	+	16	1812	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	STXBP5L_uc011bji.2_Nonsense_Mutation_p.R558*	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	558					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTAGAGGTACGACTTCAGTA	0.318												
HPS3	84343	broad.mit.edu	37	3	148868439	148868439	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:148868439A>G	uc003ewu.1	+	5	1357	c.1217A>G	c.(1216-1218)gAg>gGg	p.E406G	HPS3_uc011bnq.1_Missense_Mutation_p.E241G|HPS3_uc021xfk.1_Missense_Mutation_p.E299G	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	406						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCTCGTGAGGAGGACCCGTAC	0.512									Hermansky-Pudlak syndrome			
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
BCL6	604	broad.mit.edu	37	3	187440292	187440292	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:187440292C>T	uc003frp.3	-	9	2532	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R636H|BCL6_uc010hza.2_Missense_Mutation_p.R590H|BCL6_uc003frq.2_Missense_Mutation_p.R692H	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	692					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGCTGACACGCGGTATTGCAC	0.552			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""							
CPZ	8532	broad.mit.edu	37	4	8605853	8605853	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr4:8605853G>A	uc003glm.3	+	3	821	c.647G>A	c.(646-648)aGc>aAc	p.S216N	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.S205N|CPZ_uc003gln.3_Missense_Mutation_p.S79N	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	216					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATCGGGCGCAGCTTCGACGGC	0.687												
IL21	59067	broad.mit.edu	37	4	123542199	123542199	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr4:123542199G>A	uc003ies.2	-	0					BC045668_uc003iet.3_Non-coding_Transcript|IL21_uc010int.3_5'UTR	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.						cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						CCTTGGTCTCGTTTTCACTTC	0.463												
PRDM9	56979	broad.mit.edu	37	5	23527680	23527680	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr5:23527680G>T	uc003jgo.3	+	10	2665	c.2483G>T	c.(2482-2484)gGg>gTg	p.G828V		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	828					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.T827R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACACAGGGGAGAAGCCC	0.582										HNSCC(3;0.000094)		
RGNEF	64283	broad.mit.edu	37	5	73090229	73090229	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr5:73090229A>G	uc010izf.3	+	7	1089	c.913A>G	c.(913-915)Att>Gtt	p.I305V	RGNEF_uc011csq.2_Missense_Mutation_p.I305V|RGNEF_uc003kcy.1_Missense_Mutation_p.I305V|RGNEF_uc021yam.1_Missense_Mutation_p.I305V	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	305					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TTTTGCAGAGATTAAGAATTC	0.398												
PCDHGC5	56102	broad.mit.edu	37	5	140750263	140750263	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr5:140750263C>T	uc003ljw.2	+	0	302	c.302C>T	c.(301-303)aCg>aTg	p.T101M	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_uc011dat.2_Missense_Mutation_p.T101M	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	101	Cadherin 1.				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)			AAGAAGTCGACGTGTGTTCTG	0.433												
KIF13A	63971	broad.mit.edu	37	6	17804730	17804730	+	Silent	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr6:17804730G>T	uc003ncg.4	-	19	2476	c.2316C>A	c.(2314-2316)ctC>ctA	p.L772L	KIF13A_uc003ncf.3_Silent_p.L772L|KIF13A_uc003nch.4_Silent_p.L772L|KIF13A_uc003nci.4_Silent_p.L772L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	772					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTTTCCGTAGAGTCTCTTTG	0.393												
GFRAL	389400	broad.mit.edu	37	6	55198595	55198595	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr6:55198595C>A	uc003pcm.1	+	2	255	c.169C>A	c.(169-171)Ccc>Acc	p.P57T		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	57						integral to membrane	receptor activity	p.P57S(2)|p.P57P(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCCAGGTGACCCCTGCAAGAT	0.353												
GFRAL	389400	broad.mit.edu	37	6	55198620	55198620	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr6:55198620A>G	uc003pcm.1	+	2	280	c.194A>G	c.(193-195)tAc>tGc	p.Y65C		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	65						integral to membrane	receptor activity	p.Y65N(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATTCATCATACTGTAACCTG	0.373												
PRSS35	167681	broad.mit.edu	37	6	84234372	84234372	+	Silent	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr6:84234372C>T	uc003pjz.3	+	1	1452	c.1212C>T	c.(1210-1212)caC>caT	p.H404H	PRSS35_uc010kbm.3_Silent_p.H404H|PRSS35_uc021zce.1_Silent_p.H404H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	404	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TCTGGATTCACGGGAACGATG	0.512												
THSD7A	221981	broad.mit.edu	37	7	11485827	11485827	+	Silent	SNP	T	T	A	rs79441692	by1000genomes	TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:11485827T>A	uc021zzo.1	-	12	3177	c.2925A>T	c.(2923-2925)ccA>ccT	p.P975P	THSD7A_uc021zzn.1_Silent_p.P975P	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	975	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTTTCCCTCTGGTAAAATAC	0.423										HNSCC(18;0.044)		
INHBA	3624	broad.mit.edu	37	7	41729399	41729399	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:41729399C>T	uc003thq.3	-	1	1365	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	INHBA_uc003thr.3_Missense_Mutation_p.R377H	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	377				RMR -> AC (in Ref. 7; CAA51163).	cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.R377H(2)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCCCGCATGCGGTAGTGGTT	0.547										TSP Lung(11;0.080)		
GCK	2645	broad.mit.edu	37	7	44186119	44186119	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:44186119G>C	uc003tkl.2	-	7	1432	c.962C>G	c.(961-963)tCc>tGc	p.S321C	GCK_uc003tkj.1_Missense_Mutation_p.S320C|GCK_uc003tkk.1_Missense_Mutation_p.S322C	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	321					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CAGCTGCTCGGAGGCCTCCCC	0.647												
ADCY1	107	broad.mit.edu	37	7	45719321	45719321	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:45719321C>G	uc003tne.4	+	10	1930	c.1912C>G	c.(1912-1914)Ctg>Gtg	p.L638V		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	638					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTGGTCGTCCTGCTCCTGCT	0.577												
WBSCR17	64409	broad.mit.edu	37	7	71175875	71175875	+	Missense_Mutation	SNP	G	G	A	rs143185553	byFrequency	TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:71175875G>A	uc003tvy.3	+	9	1630	c.1630G>A	c.(1630-1632)Gtc>Atc	p.V544I	WBSCR17_uc003tvz.3_Missense_Mutation_p.V243I	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	544	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V544V(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTGCGACAAGGTCAAGAGCAG	0.612												
FKBP6	8468	broad.mit.edu	37	7	72754748	72754748	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:72754748G>C	uc003tya.2	+	5	829	c.697G>C	c.(697-699)Gac>Cac	p.D233H	FKBP6_uc003twz.2_Missense_Mutation_p.D203H|FKBP6_uc011kew.1_Missense_Mutation_p.D228H|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	233					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGAAGCTAGACCGACCCAC	0.567												
CCDC132	55610	broad.mit.edu	37	7	92886757	92886757	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:92886757A>G	uc003umo.3	+	5	531	c.403A>G	c.(403-405)Atc>Gtc	p.I135V	CCDC132_uc003ump.3_Missense_Mutation_p.I105V|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.I135V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	135										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTGCTGTTATCTGTACAAA	0.313												
LRWD1	222229	broad.mit.edu	37	7	102106694	102106694	+	Silent	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:102106694C>T	uc003uzn.3	+	2	547	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	137					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	p.N136K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGTGGAGAACCTGAATCGGGA	0.522												
REPIN1	29803	broad.mit.edu	37	7	150069796	150069796	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:150069796G>T	uc022apt.1	-	0					REPIN1_uc003whd.2_Missense_Mutation_p.C478F|REPIN1_uc010lpq.1_Missense_Mutation_p.C489F|REPIN1_uc010lpr.1_Missense_Mutation_p.C546F|REPIN1_uc003whc.2_Missense_Mutation_p.C489F|REPIN1_uc003whe.2_Missense_Mutation_p.C489F			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).						DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCCTACGTCTGCCCCGACTGC	0.692												
PPP1R3B	79660	broad.mit.edu	37	8	8998667	8998667	+	Silent	SNP	C	C	T	rs138887555		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr8:8998667C>T	uc022arp.1	-	0	495	c.495G>A	c.(493-495)acG>acA	p.T165T	PPP1R3B_uc003wsn.4_Silent_p.T165T|PPP1R3B_uc003wso.4_Silent_p.T165T	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	165	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AGGTGTCGAACGTCATCCTTA	0.502												
IFNA10	3446	broad.mit.edu	37	9	21206859	21206859	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr9:21206859G>A	uc003zoq.1	-	0	284	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	80					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	p.L80F(2)|p.V79A(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATCTCATGGAGGACAGAGATG	0.483												
IFNA10	3446	broad.mit.edu	37	9	21206861	21206861	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr9:21206861A>G	uc003zoq.1	-	0	282	c.236T>C	c.(235-237)gTc>gCc	p.V79A	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	79					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	p.V79A(4)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCATGGAGGACAGAGATGGC	0.488												
ZNF483	158399	broad.mit.edu	37	9	114304228	114304228	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr9:114304228C>G	uc004bff.2	+	5	1237	c.1013C>G	c.(1012-1014)cCc>cGc	p.P338R	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	338					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGCAAGAAACCCTTCAGTTTT	0.413												
REPS2	9185	broad.mit.edu	37	X	17157019	17157019	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:17157019C>T	uc004cxv.1	+	16	2020	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C	REPS2_uc004cxw.1_Missense_Mutation_p.R616C|REPS2_uc011miw.1_Missense_Mutation_p.R415C	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	617	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AACTGCTATCCGCAAAAATAA	0.483												
CASK	8573	broad.mit.edu	37	X	41782236	41782236	+	Silent	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:41782236G>A	uc004dfl.4	-	0	52	c.6C>T	c.(4-6)gcC>gcT	p.A2A	CASK_uc004dfm.4_Silent_p.A2A|CASK_uc004dfn.4_Silent_p.A2A	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	2					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CGTCGTCGTCGGCCATGGTCC	0.642												
SSX9	280660	broad.mit.edu	37	X	48159131	48159131	+	Silent	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:48159131G>A	uc022bvu.1	-	4	404	c.402C>T	c.(400-402)aaC>aaT	p.N134N						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						GTTTCCCATCGTTCTGTAAGC	0.468												
FGD1	2245	broad.mit.edu	37	X	54497806	54497806	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:54497806G>T	uc004dtg.3	-	1	1156	c.422C>A	c.(421-423)aCt>aAt	p.T141N	FGD1_uc011moi.1_5'Flank	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	141	Pro-rich.				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	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.P140P(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						AGGGGTTTCAGTCGGGGGACC	0.607												
ATP2B3	492	broad.mit.edu	37	X	152807349	152807349	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:152807349C>T	uc004fht.1	+	2	755	c.629C>T	c.(628-630)gCg>gTg	p.A210V	ATP2B3_uc004fhs.1_Missense_Mutation_p.A210V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	210					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.A210A(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGTGGCTGCGCTGGTGGTG	0.627