Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ST6GALNAC1	55808	broad.mit.edu	37	17	74622760	74622761	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:74622760_74622761CC>AA	uc002jsh.3	-	4	1457_1458	c.1283_1284GG>TT	c.(1282-1284)cgg>cTT	p.R428L	ST6GALNAC1_uc002jsi.3_Missense_Mutation_p.R296L|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	428					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TCTTGAAACCCCGATTGCCCAA	0.554000														519			12		0	0	6.4e-05	0	0
A4GNT	51146	broad.mit.edu	37	3	137843343	137843344	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:137843343_137843344GG>TT	uc003ers.2	-	2	987_988	c.785_786CC>AA	c.(784-786)ccc>cAA	p.P262Q		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	262					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GATAGGAGATGGGGTAAAATCT	0.480000														432			9		0	0	6.4e-05	0	0
OR6A2	8590	broad.mit.edu	37	11	6816406	6816406	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:6816406G>A	uc001mes.1	-	0	734	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGTTGATGATGTTGGGGC	0.463000														30			26		0	0	0.000184323	0	0
THEMIS	387357	broad.mit.edu	37	6	128134390	128134390	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:128134390G>A	uc011ebt.2	-	3	1545	c.1396C>T	c.(1396-1398)Ctt>Ttt	p.L466F	THEMIS_uc010kfa.3_Missense_Mutation_p.L369F|THEMIS_uc021zfa.1_Missense_Mutation_p.L466F|THEMIS_uc010kfb.3_Missense_Mutation_p.L431F	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	466	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.D465Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCAATGGAAAGATCCCTGACA	0.468000														22			17		0	0	0.000422831	0	0
BSN	8927	broad.mit.edu	37	3	49701949	49701949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:49701949C>T	uc003cxe.4	+	8	11816	c.11702C>T	c.(11701-11703)cCt>cTt	p.P3901L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3901					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGATCCTCCCTGGCGGGGCA	0.647000														42			38		0	0	0.000270559	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225170	26225170	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:26225170G>A	uc003sxq.3	+	3	2124	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	618	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGCAAAGAAGGAAACTCTTAA	0.328000														23			13		0	0	0.00010058	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884979	12884979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:12884979C>T	uc001auk.2	-	3	1328	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	378										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCATAACTTTCCTGCGGGGCA	0.502000														151			127		0	0	0.000781405	0	0
MOG	4340	broad.mit.edu	37	6	29638086	29638086	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:29638086G>A	uc003nnf.3	+	5	850	c.621G>A	c.(619-621)tgG>tgA	p.W207*	MOG_uc003nmy.2_Nonsense_Mutation_p.W207*|MOG_uc003nna.3_Nonsense_Mutation_p.W91*|MOG_uc011dlt.2_Nonsense_Mutation_p.W137*|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Nonsense_Mutation_p.W207*|MOG_uc003nng.3_Intron|MOG_uc003nni.3_Intron|MOG_uc003nnh.3_Intron|MOG_uc003nnj.3_Intron|MOG_uc003nnk.3_Intron	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	207					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGCCCTGCTGGAAGATAACCC	0.507000														180			67		0	0	0.000781405	0	0
BDP1	55814	broad.mit.edu	37	5	70819834	70819834	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:70819834C>T	uc003kbp.1	+	24	5719	c.5456C>T	c.(5455-5457)tCt>tTt	p.S1819F	BDP1_uc003kbo.3_Missense_Mutation_p.S1819F|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1819					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTATCTCTTCTACATCTGAG	0.388000														42			37		0	0	0.000191422	0	0
VRK2	7444	broad.mit.edu	37	2	58358966	58358966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:58358966G>A	uc002rzo.2	+	11	1445	c.700G>A	c.(700-702)Gag>Aag	p.E234K	VRK2_uc010fcb.2_Missense_Mutation_p.E234K|VRK2_uc002rzt.3_Missense_Mutation_p.E116K|VRK2_uc002rzs.3_Missense_Mutation_p.E234K|VRK2_uc002rzv.3_Missense_Mutation_p.E234K|VRK2_uc010fcd.3_Missense_Mutation_p.E211K|VRK2_uc002rzu.3_Missense_Mutation_p.E234K|VRK2_uc010fcc.3_Missense_Mutation_p.E116K|VRK2_uc002rzp.3_Missense_Mutation_p.E234K|VRK2_uc010ypg.2_Missense_Mutation_p.E234K|VRK2_uc010yph.1_Missense_Mutation_p.E116K	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	234	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AAGTGACGTTGAGATCCTCGG	0.468000														40			23		0	0	0.00047179	0	0
PID1	55022	broad.mit.edu	37	2	229890519	229890519	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:229890519C>T	uc002vpr.4	-	2	620	c.582G>A	c.(580-582)caG>caA	p.Q194Q	PID1_uc002vps.4_Silent_p.Q192Q|PID1_uc002vpt.4_Silent_p.Q161Q|PID1_uc002vpu.4_Silent_p.Q112Q	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	194	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGCAGTCCATCTGGTAGGACA	0.587000														43			32		0	0	0.000409698	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221260	56221260	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:56221260G>A	uc001shu.2	-	0	1239	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	DNAJC14_uc001shx.1_Nonsense_Mutation_p.Q395*|DNAJC14_uc009zob.1_Nonsense_Mutation_p.Q395*|DNAJC14_uc001shy.1_Nonsense_Mutation_p.Q395*	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	395					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAGCCCCACTGAACTATTCTT	0.552000														58			47		0	0	0.000781405	0	0
KDM3B	51780	broad.mit.edu	37	5	137756405	137756405	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:137756405C>T	uc003lcy.1	+	14	3926	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	KDM3B_uc010jew.1_Silent_p.S898S|KDM3B_uc011cys.1_Silent_p.S274S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1242					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAGCAGGGTCCCTGAGGTCGG	0.458000														62			42		0	0	0.000781405	0	0
NBPF7	343505	broad.mit.edu	37	1	120382882	120382883	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:120382882_120382883GG>TT	uc010oxk.2	-	3	1244_1245	c.623_624CC>AA	c.(622-624)ccc>cAA	p.P208Q		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	208	NBPF 1.					cytoplasm		p.P208P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		AGTCTTACCTGGGAGCAGGTGA	0.401000														395			8		0	0	6.4e-05	0	0
CFTR	1080	broad.mit.edu	37	7	117243649	117243649	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:117243649C>T	uc003vjd.3	+	16	2853	c.2721C>T	c.(2719-2721)atC>atT	p.I907I	CFTR_uc011knq.2_Silent_p.I313I	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	907	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CAGTGATTATCACCAGCACCA	0.418000									Cystic Fibrosis					20			7		0	0	0.000157383	0	0
HFE2	148738	broad.mit.edu	37	1	145416872	145416872	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:145416872C>T	uc001eni.2	+	3	1542	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	HFE2_uc001enk.2_Missense_Mutation_p.S293F|HFE2_uc001enj.2_Missense_Mutation_p.S180F|HFE2_uc001enl.2_Missense_Mutation_p.S180F|HFE2_uc021oux.1_Missense_Mutation_p.S180F	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	406					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTCCTCTTTCCTCAGCAACC	0.522000														66			50		0	0	0.000781405	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559699	44559699	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:44559699G>A	uc002lcr.1	-	0	2290	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	646	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.K645T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTGGCCACAGATTTGAAACA	0.542000														167			68		0	0	0.000781405	0	0
PCDH8	5100	broad.mit.edu	37	13	53420893	53420893	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:53420893G>A	uc001vhi.3	-	0	1883	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V	PCDH8_uc001vhj.3_Missense_Mutation_p.A560V	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	560	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGCGTAGATGGCTCCGGTAGC	0.687000														7			8		0	0	0.000442599	0	0
VWA5A	4013	broad.mit.edu	37	11	123988943	123988943	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:123988943C>T	uc001pzu.3	+	4	503	c.294C>T	c.(292-294)ttC>ttT	p.F98F	VWA5A_uc001pzr.3_Silent_p.F98F|VWA5A_uc001pzs.3_Silent_p.F98F|VWA5A_uc010sae.2_Silent_p.F114F|VWA5A_uc001pzt.3_Silent_p.F98F	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	98	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ACCAGGCCTTCTTATTGGAGG	0.567000														31			18		0	0	0.00074312	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510169	120510169	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:120510169C>T	uc001eik.3	-	7	1637	c.1340G>A	c.(1339-1341)gGt>gAt	p.G447D	NOTCH2_uc001eil.3_Missense_Mutation_p.G447D|NOTCH2_uc021osy.1_Missense_Mutation_p.G408D|NOTCH2_uc001eim.4_Missense_Mutation_p.G364D	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	447	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGCATAACCCTTCAGACA	0.478000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					196			161		0	0	0.000781405	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446348	10446348	+	Silent	SNP	T	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:10446348T>C	uc003gmn.3	-	2	2092	c.1605A>G	c.(1603-1605)gcA>gcG	p.A535A	ZNF518B_uc021xme.1_Silent_p.A535A	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AGGAACAGGTTGCAGGTGATG	0.398000														34			25		0	0	0.000720815	0	0
PPA2	27068	broad.mit.edu	37	4	106377875	106377875	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:106377875G>A	uc003hxl.3	-	1	205	c.185C>T	c.(184-186)cCc>cTc	p.P62L	PPA2_uc003hxn.3_Missense_Mutation_p.P62L|PPA2_uc003hxo.3_Missense_Mutation_p.P62L|PPA2_uc003hxp.3_Intron|PPA2_uc003hxq.3_5'UTR|PPA2_uc011cfa.1_Intron	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	62					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATCATGAAAGGGGGAAATGTA	0.348000														78			58		0	0	0.000781405	0	0
CCBL2	56267	broad.mit.edu	37	1	89420882	89420882	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:89420882T>C	uc001dmp.2	-	8	1191	c.814A>G	c.(814-816)Aca>Gca	p.T272A	CCBL2_uc001dmq.2_Missense_Mutation_p.T238A|CCBL2_uc001dmr.2_Missense_Mutation_p.T108A	NM_001008661	NP_001008662	Q6YP21	KAT3_HUMAN	Homo sapiens cysteine conjugate-beta lyase 2 (CCBL2), transcript variant 1, mRNA.	272					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTGTTATTGTTCTCTCCCAC	0.318000														37			35		0	0	0.000191422	0	0
CMPK2	129607	broad.mit.edu	37	2	6991691	6991691	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:6991691G>A	uc002qyo.3	-	3	1225	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CMPK2_uc002qyn.1_Non-coding_Transcript|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.3_Silent_p.I372I	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	372					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGAGCAGCAGGATAAGGTCAG	0.597000														63			39		0	0	0.000319135	0	0
TSNARE1	203062	broad.mit.edu	37	8	143399925	143399925	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:143399925G>A	uc003ywj.3	-	5	1003	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	TSNARE1_uc011lju.2_Silent_p.L322L|TSNARE1_uc003ywk.3_Silent_p.L322L|TSNARE1_uc003ywl.4_Silent_p.L103L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	322					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGCGCAGCAGCTCGGCCATC	0.652000														64			44		0	0	0.000781405	0	0
CFHR5	81494	broad.mit.edu	37	1	196952032	196952032	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:196952032C>T	uc001gts.4	+	1	204	c.76C>T	c.(76-78)Cca>Tca	p.P26S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	26	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTGTGATTTTCCAAAAATACA	0.308000														34			14		0	0	0.000308642	0	0
ADCY1	107	broad.mit.edu	37	7	45632490	45632490	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:45632490G>A	uc003tne.4	+	1	790	c.772G>A	c.(772-774)Gat>Aat	p.D258N	ADCY1_uc003tnd.3_Missense_Mutation_p.D33N	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	258					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)	GAGGCTGGAGGATGAGAACGA	0.592000														25			24		0	0	0.000295444	0	0
UNQ2565	0	broad.mit.edu	37	22	24658478	24658478	+	RNA	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:24658478C>T	uc002zzs.4	+	5		c.3102C>T			DQ576853_uc011ajp.1_Non-coding_Transcript					Homo sapiens POM121 membrane glycoprotein-like 9, pseudogene (POM121L9P), non-coding RNA.																		TTCAGCGTGCCTGCGATGGCG	0.567000														15			5		0	0	3.59834e-05	0	0
AFF3	3899	broad.mit.edu	37	2	100199260	100199260	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:100199260C>T	uc002taf.3	-	16	3012	c.2868_splice	c.e16+1	p.T956_splice	AFF3_uc002tag.3_Splice_Site_p.T931_splice|AFF3_uc010fiq.1_Splice_Site_p.T931_splice|AFF3_uc010yvr.1_Splice_Site_p.T1084_splice|AFF3_uc002tah.1_Splice_Site_p.T956_splice	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	931					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATCAACAAACCGTGAGGTCTC	0.498000														41			29		0	0	0.000279167	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912499	54912499	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:54912499C>A	uc001sgc.4	+	13	1482	c.1403C>A	c.(1402-1404)tCt>tAt	p.S468Y	NCKAP1L_uc010sox.2_Missense_Mutation_p.S10Y|NCKAP1L_uc010soy.2_Missense_Mutation_p.S418Y	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	468					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATCCTCTCCTCTCTGAATCTC	0.468000														82			72		7.09011e-46	1.03208e-44	0.000781405	1	0
HINT2	84681	broad.mit.edu	37	9	35813317	35813318	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:35813317_35813318GG>AA	uc003zyh.3	-	3	411_412	c.345_346CC>TT	c.(343-348)ctcctt>ctTTtt	p.L116F	SPAG8_uc003zye.3_5'Flank|SPAG8_uc003zyg.3_5'Flank	NM_032593	NP_115982	Q9BX68	HINT2_HUMAN	Homo sapiens histidine triad nucleotide binding protein 2 (HINT2), nuclear gene encoding mitochondrial protein, mRNA.	116	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity	p.L115F(1)		NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGCCACAAGGAGTAGGTGTC	0.550000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			93		0	0	6.4e-05	0	0
BAG6	7917	broad.mit.edu	37	6	31610040	31610041	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31610040_31610041CG>AT	uc003nvg.4	-	14	2407_2408	c.2093_2094CG>AT	c.(2092-2094)ccg>cAT	p.P698H	BAG6_uc003nvf.4_Missense_Mutation_p.P692H|BAG6_uc003nvi.4_Missense_Mutation_p.P692H|BAG6_uc003nvh.4_Missense_Mutation_p.P692H|BAG6_uc011dnw.2_Missense_Mutation_p.P692H|BAG6_uc011dnx.2_Missense_Mutation_p.P566H	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	698					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TAAAAAACTCCGGTGACAGGCT	0.639000														357			9		0	0	6.4e-05	0	0
EPB41	2035	broad.mit.edu	37	1	29319972	29319973	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:29319972_29319973CC>TT	uc001brm.2	+	2	726_727	c.599_600CC>TT	c.(598-600)tcc>tTT	p.S200F	EPB41_uc001brg.2_5'UTR|EPB41_uc001brh.2_5'UTR|EPB41_uc001brj.2_5'UTR|EPB41_uc001bri.2_Missense_Mutation_p.S200F|EPB41_uc009vtk.2_Missense_Mutation_p.S200F|EPB41_uc001brk.3_Missense_Mutation_p.S200F|EPB41_uc001brl.2_Missense_Mutation_p.S200F|EPB41_uc021okg.1_Missense_Mutation_p.S200F|EPB41_uc009vtm.2_Intron|EPB41_uc009vtl.2_5'UTR	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	200					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTAAAAGCTTCCCAAAAACCAA	0.366000														46			41		0	0	6.4e-05	0	0
DDB2	1643	broad.mit.edu	37	11	47259440	47259440	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:47259440C>T	uc001neb.2	+	7	1271	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	DDB2_uc001nec.2_Non-coding_Transcript|DDB2_uc009yli.1_Missense_Mutation_p.P295L|DDB2_uc001ned.2_Non-coding_Transcript|DDB2_uc001nee.2_Missense_Mutation_p.P170L|DDB2_uc001nef.2_Missense_Mutation_p.P156L	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	359					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TACCCAGATCCTAATTTCAAA	0.488000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum					69			41		0	0	0.000509022	0	0
DNAH3	55567	broad.mit.edu	37	16	20996810	20996810	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:20996810C>T	uc010vbe.2	-	47	7254	c.7254G>A	c.(7252-7254)agG>agA	p.R2418R	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2418	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACGGCAGATCCTAGAGATGT	0.552000														36			31		0	0	0.000279167	0	0
TTC35	9694	broad.mit.edu	37	8	109468135	109468135	+	Silent	SNP	T	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:109468135T>A	uc003ymw.1	+	4	374	c.339T>A	c.(337-339)atT>atA	p.I113I		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	113						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			ATGATAGGATTTTACAAGAAG	0.234000														46			7		0	0	0.000157383	0	0
EPN3	55040	broad.mit.edu	37	17	48614080	48614080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:48614080G>A	uc010wms.2	+	2	516	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	EPN3_uc002ira.4_Missense_Mutation_p.E55K|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.E55K			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	55	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGCCTTCACCGAAGTCATGGG	0.597000														33			63		0	0	0.000781405	0	0
RIF1	55183	broad.mit.edu	37	2	152273156	152273157	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:152273156_152273157GG>TT	uc002txm.3	+	4	523_524	c.362_363GG>TT	c.(361-363)tgg>tTT	p.W121F	RIF1_uc010fnv.2_Missense_Mutation_p.W85F|RIF1_uc002txn.3_Missense_Mutation_p.W121F|RIF1_uc002txl.3_Missense_Mutation_p.W121F|RIF1_uc002txo.3_Missense_Mutation_p.W121F|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	121					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAGCACTTTGGGTGATATCTA	0.342000														344			8		0	0	6.4e-05	0	0
HCN1	348980	broad.mit.edu	37	5	45262553	45262553	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:45262553G>A	uc003jok.3	-	7	2168	c.2143C>T	c.(2143-2145)Cga>Tga	p.R715*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	715						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A714S(2)|p.R715Q(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGAAAGTTCGAGCGGCCAGA	0.652000														16			18		0	0	0.000958276	0	0
CLTCL1	8218	broad.mit.edu	37	22	19223300	19223300	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:19223300G>A	uc021wle.1	-	5	963	c.888C>T	c.(886-888)aaC>aaT	p.N296N	CLTCL1_uc021wld.1_Silent_p.N296N|CLTCL1_uc021wlc.1_Silent_p.N296N|CLTCL1_uc021wlf.1_Silent_p.N296N|CLTCL1_uc011agw.1_Silent_p.N296N	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	296	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CACTAATACGGTTCATGCAGA	0.408000			T	?	ALCL									95			72		0	0	0.000781405	0	0
CFTR	1080	broad.mit.edu	37	7	117175331	117175331	+	Silent	SNP	C	T	T	rs1800081		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:117175331C>T	uc003vjd.3	+	5	741	c.609C>T	c.(607-609)atC>atT	p.I203I	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	203	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCGTGTGGATCGCTCCTTTGC	0.458000									Cystic Fibrosis					45			58		0	0	0.000781405	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120350843	120350843	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:120350843C>T	uc001pxl.2	+	37	4276	c.3941C>T	c.(3940-3942)cCc>cTc	p.P1314L	ARHGEF12_uc009zat.3_Missense_Mutation_p.P1295L|ARHGEF12_uc009zau.1_Missense_Mutation_p.P1211L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1314					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGACATATGCCCTTTAGAACT	0.483000			T	MLL	AML									64			45		0	0	0.000781405	0	0
TNS4	84951	broad.mit.edu	37	17	38645016	38645016	+	Silent	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:38645016C>A	uc010cxb.3	-	2	809	c.645G>T	c.(643-645)ctG>ctT	p.L215L		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	215	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGAGGGGGGCAGAGGGCGCT	0.647000														56			27		3.01185e-09	4.32451e-08	0.000586117	1	0
EFNB3	1949	broad.mit.edu	37	17	7612849	7612849	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:7612849G>A	uc002gis.3	+	4	1375	c.978G>A	c.(976-978)caG>caA	p.Q326Q		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	326					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				ATATCGTGCAGGATGGGCCCC	0.592000														2			30		0	0	0.000814825	0	0
abParts	0	broad.mit.edu	37	14	107211377	107211377	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:107211377C>T	uc021ser.1	-	15		c.1100_splice	c.e15-1							Parts of antibodies, mostly variable regions.																		AAACCCAGCTCAGCCCAAACT	0.517000														65			55		0	0	0.000781405	0	0
NIPAL3	57185	broad.mit.edu	37	1	24782663	24782664	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:24782663_24782664GG>TT	uc001bjh.3	+	7	1080_1081	c.673_674GG>TT	c.(673-675)ggg>TTg	p.G225L	NIPAL3_uc009vrc.3_Missense_Mutation_p.G143L|NIPAL3_uc001bji.3_5'UTR	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA.	225						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GGCCGTGGCTGGGATGCTTGTC	0.564000														285			8		0	0	6.4e-05	0	0
BAG6	7917	broad.mit.edu	37	6	31606965	31606966	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31606965_31606966GG>TT	uc003nvg.4	-	24	3655_3656	c.3341_3342CC>AA	c.(3340-3342)ccc>cAA	p.P1114Q	BAG6_uc003nvf.4_Missense_Mutation_p.P1108Q|BAG6_uc003nvi.4_Missense_Mutation_p.P1108Q|BAG6_uc003nvh.4_Missense_Mutation_p.P1108Q|BAG6_uc011dnw.2_Missense_Mutation_p.P1059Q|BAG6_uc011dnx.2_Missense_Mutation_p.P885Q	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	1114					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GACTGTAGTTGGGGTCTTCCTG	0.540000														772			12		0	0	6.4e-05	0	0
abParts	0	broad.mit.edu	37	14	106668007	106668007	+	RNA	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:106668007G>A	uc021ser.1	-	1312		c.27013C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.483000														66			45		0	0	0.000781405	0	0
MVP	9961	broad.mit.edu	37	16	29842365	29842365	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:29842365C>T	uc002dui.3	+	2	444	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Intron|MVP_uc002duj.3_Missense_Mutation_p.P98S|MVP_uc010vea.2_5'UTR	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	98					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGACCCCTTCCCCCTGTACCC	0.617000														8			8		0	0	0.000274275	0	0
HPS1	3257	broad.mit.edu	37	10	100190926	100190926	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:100190926G>A	uc021pwv.1	-	6	876	c.630C>T	c.(628-630)ttC>ttT	p.F210F	HPS1_uc009xwb.3_Non-coding_Transcript|HPS1_uc010qph.1_Silent_p.F210F|HPS1_uc001kpl.3_Silent_p.F210F	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	210					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GCACGAGCAGGAAGGCATGCA	0.627000									Hermansky-Pudlak syndrome					12			14		0	0	0.000219431	0	0
IQUB	154865	broad.mit.edu	37	7	123104989	123104989	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:123104989G>A	uc003vkn.3	-	9	2233	c.1656C>T	c.(1654-1656)gtC>gtT	p.V552V	IQUB_uc003vko.3_Silent_p.V552V|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.V552V	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	552								p.G551G(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATGATGTTTGACTCCTCTCA	0.323000														144			19		0	0	0.000295444	0	0
GPR98	84059	broad.mit.edu	37	5	90106807	90106807	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:90106807C>T	uc003kju.3	+	73	15826	c.15730C>T	c.(15730-15732)Ctt>Ttt	p.L5244F	GPR98_uc003kjt.3_Missense_Mutation_p.L2950F|GPR98_uc003kjw.3_Missense_Mutation_p.L905F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5244					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCAGAAGTTCTTATCCGAAG	0.423000														42			36		0	0	0.000319135	0	0
VWA3B	200403	broad.mit.edu	37	2	98779420	98779420	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:98779420C>T	uc002syo.3	+	7	1359	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	VWA3B_uc010yvh.2_Silent_p.D215D|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Silent_p.D365D|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.D22D	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	365										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAAGCCCGACGTGGCCACTG	0.567000														54			37		0	0	0.000781405	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857353	9857353	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:9857353C>T	uc010uym.2	-	13	4358	c.4048G>A	c.(4048-4050)Gac>Aac	p.D1350N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1350N|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1350					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCTTGCTGTCCTCCAGACCT	0.537000														32			19		0	0	0.000958276	0	0
MUC3A	4584	broad.mit.edu	37	7	100551903	100551904	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:100551903_100551904GG>TT	uc003uxl.1	+	0	1154_1155	c.354_355GG>TT	c.(352-357)agggga>agTTga	p.118_119RG>S*	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTTCACTAGGGGAAGTACGTC	0.431000														368			13		0	0	6.4e-05	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576414	158576414	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:158576414C>T	uc010pio.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGTACCTCTTCCTTTCCTTCC	0.517000														46			27		0	0	0.000227799	0	0
SLC13A1	6561	broad.mit.edu	37	7	122769450	122769450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:122769450G>A	uc003vkm.3	-	8	1043	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	SLC13A1_uc010lks.3_Missense_Mutation_p.L216F	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	340						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATTGGCCCAAGCTTTTGGTAT	0.403000														10			30		0	0	0.000339439	0	0
BAG6	7917	broad.mit.edu	37	6	31617045	31617046	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31617045_31617046CC>AA	uc003nvg.4	-	3	667_668	c.353_354GG>TT	c.(352-354)cgg>cTT	p.R118L	BAG6_uc003nvf.4_Missense_Mutation_p.R118L|BAG6_uc003nvi.4_Missense_Mutation_p.R118L|BAG6_uc003nvh.4_Missense_Mutation_p.R118L|BAG6_uc011dnw.2_Missense_Mutation_p.R118L|BAG6_uc011dnx.2_Missense_Mutation_p.R118L	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	118					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCCAGGCCCCCGAGTACCAGG	0.589000														750			15		0	0	6.4e-05	0	0
ADD2	119	broad.mit.edu	37	2	70890787	70890787	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:70890787C>T	uc021vjc.1	-	15	2216	c.1951G>A	c.(1951-1953)Ggg>Agg	p.G651R	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.G651R	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	651					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCCTCCCTCCCGTTGACCACC	0.522000														50			30		0	0	0.000339439	0	0
ZAN	7455	broad.mit.edu	37	7	100350305	100350305	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:100350305C>T	uc003uwj.3	+	13	2742	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	ZAN_uc003uwk.3_Silent_p.I859I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	859	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCACAGAAA	0.488000														10			34		0	0	0.000409698	0	0
RYR3	6263	broad.mit.edu	37	15	34023823	34023823	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:34023823G>A	uc001zhi.3	+	47	7422	c.7352G>A	c.(7351-7353)aGg>aAg	p.R2451K	RYR3_uc010bar.3_Missense_Mutation_p.R2451K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2451	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACAATATACAGGCTATCCAAG	0.468000														14			11		0	0	6.40141e-05	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717494	222717494	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:222717494T>C	uc001hnh.1	-	1	417	c.359A>G	c.(358-360)gAa>gGa	p.E120G		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	120					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTGGGTGTTTTCGGCGTCGTA	0.567000														171			139		0	0	0.000781405	0	0
PPT2	9374	broad.mit.edu	37	6	32130605	32130606	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32130605_32130606GG>TT	uc003nzw.3	+	8	980_981	c.805_806GG>TT	c.(805-807)ggg>TTg	p.G269L	PPT2_uc003nzx.3_Missense_Mutation_p.G263L|PPT2_uc003nzz.3_Missense_Mutation_p.G263L|PPT2_uc021yvl.1_Intron|EGFL8_uc003nzy.2_Intron|PPT2_uc010jtu.1_Intron|EGFL8_uc003oab.1_5'Flank|EGFL8_uc003oac.1_5'Flank	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	263					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.G269W(4)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GGATTCTTTTGGGTTGAAGACT	0.545000														860			16		0	0	6.4e-05	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938719	31938720	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31938719_31938720CC>AA	uc003nyp.1	-	2	894_895	c.561_562GG>TT	c.(559-564)atggga>atTTga	p.187_188MG>I*	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	187							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						AATTTGTATCCCATGTACATAA	0.599000														766			17		0	0	6.4e-05	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224013	43224013	+	Silent	SNP	G	A	A	rs149835341		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:43224013G>A	uc002lbe.3	+	9	2055	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	SLC14A2_uc002lbb.3_Silent_p.T413T|SLC14A2_uc010dnj.3_Silent_p.T413T	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	413						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTCCTGACGACAAACAACC	0.542000														109			54		0	0	0.000781405	0	0
SPAG5	10615	broad.mit.edu	37	17	26919504	26919504	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:26919504G>A	uc002hbq.3	-	2	850	c.758C>T	c.(757-759)gCc>gTc	p.A253V	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	253					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGCTGCCAAGGCAGTTGAAGG	0.498000														42			23		0	0	0.000295444	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748693	96748693	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:96748693C>T	uc001kka.4	+	8	1406	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L	CYP2C9_uc009xut.3_Silent_p.L459L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	461					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCTGAAATCTCTGGTTGACCC	0.478000														22			25		0	0	0.000586117	0	0
NLN	57486	broad.mit.edu	37	5	65108166	65108166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:65108166C>T	uc003juf.3	+	11	2106	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	NLN_uc010iww.3_Missense_Mutation_p.S320F	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	643					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GAAGTATTTTCCATGGATATG	0.348000														33			23		0	0	0.000375601	0	0
HAS1	3036	broad.mit.edu	37	19	52217350	52217350	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:52217350G>A	uc002pxn.1	-	3	1101	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Missense_Mutation_p.T356I|HAS1_uc002pxp.1_Missense_Mutation_p.T355I	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	356					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGACCTGGAGGTGTACCTGCA	0.637000														7			8		0	0	0.000673444	0	0
PLGLA	285189	broad.mit.edu	37	2	107007371	107007371	+	RNA	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:107007371C>T	uc002tdp.3	+	2		c.220C>T								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		GTGTATCTTTCAGAGTGCAAG	0.453000														10			10		0	0	0.00010058	0	0
CEP41	95681	broad.mit.edu	37	7	130040067	130040068	+	Missense_Mutation	DNP	CG	AT	AT	rs149934449		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:130040067_130040068CG>AT	uc003vpz.3	-	9	832_833	c.785_786CG>AT	c.(784-786)ccg>cAT	p.P262H	CEP41_uc003vpy.3_Missense_Mutation_p.P24H|CEP41_uc010lmf.3_Missense_Mutation_p.P59H|CEP41_uc003vqa.3_Intron|CEP41_uc011kpg.2_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	262	Rhodanese.				G2/M transition of mitotic cell cycle	centrosome|cytosol											TCAGTCCTTCCGGGAATTTCTG	0.525000														646			10		0	0	6.4e-05	0	0
CRHBP	1393	broad.mit.edu	37	5	76259283	76259284	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:76259283_76259284CG>AT	uc003ker.3	+	5	1089_1090	c.809_810CG>AT	c.(808-810)ccg>cAT	p.P270H		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	270					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTTCATGGCCCGGGTGAGGTAT	0.446000														312			8		0	0	6.4e-05	0	0
CLASP1	23332	broad.mit.edu	37	2	122165191	122165191	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:122165191G>A	uc002tnc.3	-	24	2915	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F	CLASP1_uc010yyv.2_5'UTR|CLASP1_uc002tmz.3_5'UTR|CLASP1_uc002tna.3_5'UTR|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.S822F|CLASP1_uc010yza.2_Missense_Mutation_p.S814F|CLASP1_uc021vnl.1_Missense_Mutation_p.S820F|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.S813F	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	842					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACCATTCCTGGAGCCATATGA	0.493000														50			50		0	0	0.000781405	0	0
BAZ2B	29994	broad.mit.edu	37	2	160242964	160242964	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:160242964C>T	uc002uao.3	-	21	3776	c.3371G>A	c.(3370-3372)gGa>gAa	p.G1124E	BAZ2B_uc002uap.3_Missense_Mutation_p.G1088E	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1124	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATTTAGCAATCCCTCTTGAAG	0.433000														12			10		0	0	6.40141e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32036656	32036657	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32036656_32036657GG>TT	uc003nzl.2	-	15	6046_6047	c.5844_5845CC>AA	c.(5842-5847)accctg>acAAtg	p.L1949M		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2031					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAACCATACAGGGTCACCAGGT	0.550000														747			14		0	0	6.4e-05	0	0
MMP24	10893	broad.mit.edu	37	20	33842501	33842501	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:33842501G>A	uc002xbu.2	+	3	764	c.761G>A	c.(760-762)gGa>gAa	p.G254E	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	254					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGATTGGAGGAGACACCCAC	0.552000														53			52		0	0	0.000781405	0	0
PRMT5	10419	broad.mit.edu	37	14	23393554	23393554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:23393554G>A	uc001whm.1	-	10	1215	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	PRMT5_uc001whl.1_Missense_Mutation_p.S358F|PRMT5_uc010tnf.1_Missense_Mutation_p.S269F|PRMT5_uc010tnh.1_Missense_Mutation_p.S331F|PRMT5_uc010tng.1_Missense_Mutation_p.S314F|PRMT5_uc001whn.1_Missense_Mutation_p.S204F	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	375					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCCCGCAGGGAAGCGTTCAC	0.547000														38			33		0	0	0.000692331	0	0
OTOP1	133060	broad.mit.edu	37	4	4199727	4199727	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:4199727C>T	uc003ghp.1	-	4	864	c.834G>A	c.(832-834)caG>caA	p.Q278Q		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	278					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGCCAGGATCTGATACTCTA	0.532000														45			30		0	0	0.000279167	0	0
DNAH10	196385	broad.mit.edu	37	12	124337793	124337793	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:124337793G>T	uc001uft.4	+	34	6003	c.5978G>T	c.(5977-5979)cGg>cTg	p.R1993L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1993	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGCTGGCCCGGGAGCAGCTG	0.423000														11			6		3.59834e-05	0.000514557	3.59834e-05	1	0
PTPRT	11122	broad.mit.edu	37	20	41306677	41306677	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:41306677G>A	uc002xkg.3	-	6	1166	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	PTPRT_uc010ggj.3_Missense_Mutation_p.R328C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	328	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R328C(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGGTGGTGCGATATTCCACT	0.562000														47			34		0	0	0.000692331	0	0
TNXB	7148	broad.mit.edu	37	6	32036847	32036848	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32036847_32036848CC>AA	uc003nzl.2	-	15	5855_5856	c.5653_5654GG>TT	c.(5653-5655)ggg>TTg	p.G1885L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1967	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTCAACTCCCCGAGGTGGGGC	0.584000														785			16		0	0	6.4e-05	0	0
CRISP3	10321	broad.mit.edu	37	6	49705064	49705064	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:49705064G>A	uc021zai.1	-	1	203	c.115C>T	c.(115-117)Cca>Tca	p.P39S	CRISP3_uc003ozs.3_Missense_Mutation_p.P29S	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	16					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GGAAAAGATGGAAGCAGCCCA	0.418000														63			8		0	0	0.000673444	0	0
TRPM2	7226	broad.mit.edu	37	21	45799003	45799003	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr21:45799003C>T	uc010gpt.1	+	7	1238	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	TRPM2_uc002zet.1_Nonsense_Mutation_p.Q380*|TRPM2_uc002zeu.1_Nonsense_Mutation_p.Q380*|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Nonsense_Mutation_p.Q380*|TRPM2_uc002zex.1_Nonsense_Mutation_p.Q166*	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	380						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCCTGATCCAGCAGAAACT	0.597000														42			37		0	0	0.000953801	0	0
CIITA	4261	broad.mit.edu	37	16	10971230	10971230	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:10971230G>A	uc002daj.4	+	0	176	c.43G>A	c.(43-45)Gag>Aag	p.E15K	CIITA_uc002dai.4_Missense_Mutation_p.E15K|CIITA_uc002dak.4_Missense_Mutation_p.E15K|CIITA_uc002dag.2_Missense_Mutation_p.E15K|CIITA_uc002dah.2_Missense_Mutation_p.E15K|CIITA_uc010bup.1_Missense_Mutation_p.E15K	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	15					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTACCTGTCAGAGCCCCAAGG	0.572000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									13			6		0	0	8.12818e-05	0	0
FAM129A	116496	broad.mit.edu	37	1	184764618	184764619	+	Missense_Mutation	DNP	GG	TT	TT	rs143488738		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:184764618_184764619GG>TT	uc001gra.3	-	13	2473_2474	c.2279_2280CC>AA	c.(2278-2280)ccc>cAA	p.P760Q	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	760	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CACAGTTGTCGGGGTGGATGGC	0.569000														205			9		0	0	6.4e-05	0	0
PARP8	79668	broad.mit.edu	37	5	50091099	50091099	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:50091099C>T	uc003jon.4	+	12	1458	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y	PARP8_uc011cpz.2_Missense_Mutation_p.H318Y|PARP8_uc003joo.3_Missense_Mutation_p.H426Y|PARP8_uc003jop.3_Missense_Mutation_p.H426Y	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	426						intracellular	NAD+ ADP-ribosyltransferase activity	p.H426R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTGAAAAATCACAAATTGCT	0.448000														30			19		0	0	0.000958276	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040675	147040675	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:147040675C>T	uc010jgo.1	-	1	611	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E155K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E113K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E155K|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	155						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCAATTTCCTGTAAGAGC	0.552000														81			58		0	0	0.000781405	0	0
CUBN	8029	broad.mit.edu	37	10	16960672	16960672	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:16960672G>A	uc001ioo.3	-	44	7001	c.6949C>T	c.(6949-6951)Cga>Tga	p.R2317*		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2317	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R2317L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTCAGATCGAAATCTCAAA	0.413000														31			16		0	0	0.000958276	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839225	128839225	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:128839225C>G	uc009zcp.3	-	21	5841	c.5841G>C	c.(5839-5841)gaG>gaC	p.E1947D	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.E906D|ARHGAP32_uc001qez.3_Missense_Mutation_p.E1598D	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1947	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTCGCTCCATCTCTTTGGAGA	0.517000														38			40		0	0	0.000374591	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398686	10398686	+	Silent	SNP	G	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:10398686G>T	uc003myr.3	-	6	1530	c.1278C>A	c.(1276-1278)gcC>gcA	p.A426A	TFAP2A_uc003myq.3_Silent_p.A420A|TFAP2A_uc003mys.3_Non-coding_Transcript|TFAP2A_uc011dih.2_3'UTR|TFAP2A_uc003myt.3_Silent_p.A422A	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	426					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CACTGCTTTTGGCGTTGTTGT	0.642000														773			11		3.52763e-06	5.05132e-05	0.000566183	1	0
DYNC2LI1	51626	broad.mit.edu	37	2	44023054	44023055	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:44023054_44023055CG>AT	uc002rtl.3	+	6	636_637	c.536_537CG>AT	c.(535-537)ccg>cAT	p.P179H	DYNC2LI1_uc002rtk.3_Missense_Mutation_p.P178H|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.P52H|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.P52H	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	178						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	p.P178P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCCATTTCCGGTACCTCTGG	0.347000														468			10		0	0	6.4e-05	0	0
CSNK2B	1460	broad.mit.edu	37	6	31637165	31637166	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31637165_31637166CC>AA	uc003nvr.1	+	5	777_778	c.437_438CC>AA	c.(436-438)ccc>cAA	p.P146Q	LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	146					Wnt receptor signaling pathway|adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						GTGTACACACCCAAGTCATCAA	0.569000														599			11		0	0	6.4e-05	0	0
INO80	54617	broad.mit.edu	37	15	41365680	41365680	+	Silent	SNP	A	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:41365680A>G	uc001zni.3	-	10	1554	c.1341T>C	c.(1339-1341)ttT>ttC	p.F447F	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	447	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTGGGCTTTAAAATGGTTAC	0.368000														42			31		0	0	0.000491102	0	0
OR4P4	81300	broad.mit.edu	37	11	55406440	55406440	+	Silent	SNP	T	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:55406440T>C	uc010rij.2	+	0	607	c.607T>C	c.(607-609)Tta>Cta	p.L203L		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TAATTCAGGCTTAATTGCTTT	0.373000														33			23		0	0	0.000229342	0	0
OR8D2	283160	broad.mit.edu	37	11	124189444	124189444	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:124189444G>C	uc010sah.2	-	0	650	c.650C>G	c.(649-651)tCt>tGt	p.S217C		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAAAGCATAAGAGATAAGGAC	0.448000														22			13		0	0	0.00010058	0	0
FAR1	84188	broad.mit.edu	37	11	13736088	13736088	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:13736088C>T	uc001mld.3	+	8	1143	c.988C>T	c.(988-990)Cct>Tct	p.P330S		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	330					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CAAGAGGAATCCTCTCGAACA	0.373000														14			8		0	0	0.000274275	0	0
KCNK1	3775	broad.mit.edu	37	1	233802610	233802610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:233802610G>A	uc010pxo.1	+	1	793	c.625G>A	c.(625-627)Gac>Aac	p.D209N		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	209						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCTGGAGGATGACTGGAACTT	0.507000														64			44		0	0	0.000781405	0	0
CFH	3075	broad.mit.edu	37	1	196643044	196643044	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:196643044G>A	uc001gtj.4	+	2	542	c.302G>A	c.(301-303)gGa>gAa	p.G101E	CFH_uc001gti.4_Missense_Mutation_p.G101E|CFH_uc009wyw.3_Missense_Mutation_p.G101E|CFH_uc009wyx.3_Missense_Mutation_p.G101E	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	101	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTACAGGAGGAAATGTGTTT	0.343000														51			53		0	0	0.000781405	0	0
LPAR3	23566	broad.mit.edu	37	1	85331580	85331580	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:85331580G>A	uc001dkl.2	-	0	263	c.224C>T	c.(223-225)gCc>gTc	p.A75V	LPAR3_uc009wcj.1_Missense_Mutation_p.A75V	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	75					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAAGAAATCGGCAGCAGCTAA	0.418000														53			41		0	0	0.000191422	0	0
OR4S2	219431	broad.mit.edu	37	11	55418847	55418847	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:55418847C>T	uc001nhs.1	+	0	468	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACTCCATTATCCAAGTGGCTC	0.433000														26			25		0	0	0.00047179	0	0
SLC22A4	6583	broad.mit.edu	37	5	131670426	131670427	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:131670426_131670427GG>TT	uc003kwq.3	+	6	1227_1228	c.1062_1063GG>TT	c.(1060-1065)gtgggt>gtTTgt	p.G355C	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	355					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGACCTCAGTGGGTTACTTTGC	0.406000														422			11		0	0	6.4e-05	0	0
SAA1	6288	broad.mit.edu	37	11	18288502	18288502	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:18288502C>T	uc021qem.1	+	2	169	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA1_uc021qen.1_Missense_Mutation_p.S23L|SAA1_uc021qeo.1_Missense_Mutation_p.S23L	NM_001178006	NP_954630	P02735	SAA_HUMAN	Homo sapiens serum amyloid A1 (SAA1), transcript variant 3, mRNA.	23					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTTCTTTTCGTTCCTTGGC	0.498000														53			27		0	0	0.000409698	0	0
ADAM30	11085	broad.mit.edu	37	1	120436620	120436621	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:120436620_120436621GG>TT	uc001eij.3	-	0	2527_2528	c.2339_2340CC>AA	c.(2338-2340)ccc>cAA	p.P780Q		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	780					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P780L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TCTTTGCTTTGGGTCGTTTACT	0.366000														552			15		0	0	6.4e-05	0	0
C1orf173	127254	broad.mit.edu	37	1	75086490	75086490	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:75086490C>T	uc001dgg.3	-	7	1147	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E104K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	310										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACTTTAATTTCATCCCGGAAG	0.348000														24			19		0	0	0.000958276	0	0
CALB2	794	broad.mit.edu	37	16	71411602	71411602	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:71411602C>T	uc002faa.4	+	3	374	c.294C>T	c.(292-294)ttC>ttT	p.F98F	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Silent_p.F98F	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	98	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AAGAGAACTTCCTTCTGTGCT	0.557000														41			29		0	0	0.000184323	0	0
LOC341056	341056	broad.mit.edu	37	11	122888658	122888658	+	RNA	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:122888658C>T	uc010rzt.2	+	0		c.385C>T								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		AATCTTAACCCCATGGTGGAT	0.473000														56			42		0	0	0.000680045	0	0
UPF2	26019	broad.mit.edu	37	10	11998368	11998369	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:11998368_11998369CC>AA	uc001ila.3	-	11	2998_2999	c.2524_2525GG>TT	c.(2524-2526)ggg>TTg	p.G842L	UPF2_uc001ilb.3_Missense_Mutation_p.G842L|UPF2_uc001ilc.3_Missense_Mutation_p.G842L|UPF2_uc009xiz.2_Missense_Mutation_p.G842L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	842	Binds to UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AACGTGGATCCCAACATCCTCT	0.376000														465			11		0	0	6.4e-05	0	0
KCNA1	3736	broad.mit.edu	37	12	5020851	5020851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:5020851C>T	uc001qnh.3	+	1	1412	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	KCNA1_uc021qts.1_Missense_Mutation_p.R103W	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	103					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGGCCGCCTGCGGAGGCCGGT	0.617000														44			19		0	0	0.000295444	0	0
TTI2	80185	broad.mit.edu	37	8	33369706	33369706	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:33369706G>A	uc003xjl.4	-	0	951	c.426C>T	c.(424-426)ggC>ggT	p.G142G	TTI2_uc003xjm.4_Silent_p.G142G|TTI2_uc003xjn.1_Silent_p.G142G	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	Homo sapiens TELO2 interacting protein 2 (TTI2), transcript variant 2, mRNA.	142							binding										AGTGATGCAGGCCCGTCTGCC	0.532000														41			27		0	0	0.000586117	0	0
UBTD2	92181	broad.mit.edu	37	5	171638918	171638918	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:171638918G>A	uc003mbp.1	-	2	747	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA.	207	Ubiquitin-like.					cytoplasm		p.F207F(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGCTCTTCGAACTTCATTT	0.493000														65			47		0	0	0.000781405	0	0
P2RY13	53829	broad.mit.edu	37	3	151046191	151046191	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:151046191C>T	uc003eyv.2	-	1	674	c.653G>A	c.(652-654)tGg>tAg	p.W218*	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	218						integral to membrane|plasma membrane		p.W197L(1)|p.Y218Y(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAAAACAGTCCAGAAAATAAA	0.353000														21			14		0	0	0.000422831	0	0
FUK	197258	broad.mit.edu	37	16	70503181	70503181	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:70503181C>G	uc010cft.3	+	9	1064	c.1006C>G	c.(1006-1008)Cgg>Ggg	p.R336G	FUK_uc002eyy.3_Missense_Mutation_p.R304G|FUK_uc002eyz.3_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	304						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCAGAGCGCCCGGGCCCAGCT	0.652000														95			4		0	0	0.00024832	0	0
MUSK	4593	broad.mit.edu	37	9	113562667	113562667	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:113562667T>G	uc022blv.1	+	14	2143	c.2009T>G	c.(2008-2010)aTg>aGg	p.M670R	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.M581R|MUSK_uc022blu.1_Missense_Mutation_p.M571R	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	670	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTCCGCAGCATGTCCCCTCAC	0.572000														10			53		0	0	0.000781405	0	0
FAT3	120114	broad.mit.edu	37	11	92543181	92543181	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:92543181C>T	uc001pdj.4	+	11	9437	c.9420C>T	c.(9418-9420)gtC>gtT	p.V3140V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3140	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACACCTGTGTCTATGAGAACA	0.532000										TCGA Ovarian(4;0.039)				171			123		0	0	0.000781405	0	0
CNOT3	4849	broad.mit.edu	37	19	54647468	54647468	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:54647468C>T	uc002qdj.2	+	4	565	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	CNOT3_uc010yel.2_Missense_Mutation_p.R81C|CNOT3_uc002qdi.3_5'UTR|CNOT3_uc002qdk.2_Missense_Mutation_p.R81C|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	81					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TATAGACAACCGCAAGCTCAT	0.557000														21			22		0	0	0.000175454	0	0
LTBP1	4052	broad.mit.edu	37	2	33174001	33174001	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:33174001G>A	uc021vft.1	+	1	577	c.554G>A	c.(553-555)aGg>aAg	p.R185K		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	185					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGCTCCCAGAGGTGCACCAAA	0.567000														50			45		0	0	0.000781405	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42292362	42292362	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:42292362G>A	uc021sjp.1	-	7	792	c.792C>T	c.(790-792)taC>taT	p.Y264Y	PLA2G4E_uc010udc.2_5'Flank|PLA2G4E_uc001zov.2_5'Flank	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	257					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGTACTTGGGGTAGTGGAAGC	0.612000														6			4		0	0	0.000602214	0	0
BAG6	7917	broad.mit.edu	37	6	31615482	31615483	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31615482_31615483CG>AT	uc003nvg.4	-	6	1005_1006	c.691_692CG>AT	c.(691-693)cgg>ATg	p.R231M	BAG6_uc003nvf.4_Missense_Mutation_p.R225M|BAG6_uc003nvi.4_Missense_Mutation_p.R225M|BAG6_uc003nvh.4_Missense_Mutation_p.R225M|BAG6_uc011dnw.2_Missense_Mutation_p.R225M|BAG6_uc011dnx.2_Missense_Mutation_p.R225M	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	231	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.R225R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CATGGGCTCCCGGGGAGGTGCT	0.663000														663			18		0	0	6.4e-05	0	0
MEFV	4210	broad.mit.edu	37	16	3293453	3293453	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:3293453C>T	uc002cun.1	-	9	2074	c.2034G>A	c.(2032-2034)ggG>ggA	p.G678G	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Silent_p.G258G|MEFV_uc021tby.1_Silent_p.G181G|MEFV_uc021tbz.1_Silent_p.G97G|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	678	B30.2/SPRY.		G -> E (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAGTCATGTTCCCTTTCCTGC	0.547000														58			35		0	0	0.000191422	0	0
CELSR1	9620	broad.mit.edu	37	22	46835151	46835151	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:46835151G>A	uc003bhw.1	-	2	4341	c.4341C>T	c.(4339-4341)ttC>ttT	p.F1447F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1447	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACTGGGGCGGGAAGCTCCTGG	0.657000														40			29		0	0	0.000184323	0	0
PREX2	80243	broad.mit.edu	37	8	69032459	69032459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:69032459G>A	uc003xxv.1	+	28	3560	c.3533G>A	c.(3532-3534)gGg>gAg	p.G1178E		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1178					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCCTAAAAGGGCAGGCTGTT	0.383000														70			44		0	0	0.000781405	0	0
ATP10D	57205	broad.mit.edu	37	4	47565627	47565627	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:47565627G>A	uc003gxk.1	+	14	2862	c.2698G>A	c.(2698-2700)Gag>Aag	p.E900K	ATP10D_uc003gxl.1_Missense_Mutation_p.E148K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	900					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Q899Q(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCGTCTGCAGGAGGGAGTCCC	0.473000														30			19		0	0	0.000586117	0	0
ASTN2	23245	broad.mit.edu	37	9	119204829	119204829	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:119204829G>A	uc004bjt.2	-	19	3449	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	ASTN2_uc022bml.1_Silent_p.F812F|ASTN2_uc022bmm.1_Silent_p.F816F|ASTN2_uc004bjp.2_Silent_p.F268F|ASTN2_uc011lxr.2_Silent_p.F219F|ASTN2_uc011lxs.2_Silent_p.F219F|ASTN2_uc011lxt.2_Silent_p.F219F|ASTN2_uc004bjq.2_Silent_p.F219F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1167	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATACAGAGTGAACCTGCAGC	0.547000														6			26		0	0	0.000586117	0	0
RGMA	56963	broad.mit.edu	37	15	93595718	93595718	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:93595718G>A	uc010urc.2	-	2	405	c.174C>T	c.(172-174)atC>atT	p.I58I	RGMA_uc002bsq.2_Silent_p.I34I|RGMA_uc021svs.1_Silent_p.I34I|RGMA_uc021svt.1_Silent_p.I34I|RGMA_uc010boi.2_5'UTR|RGMA_uc002bsr.2_5'UTR|RGMA_uc021svu.1_Silent_p.I34I|RGMA_uc002bss.2_Silent_p.I50I	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	50					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGCACTTGAGGATCTTGCACG	0.647000														12			10		0	0	0.00010058	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708282	126708282	+	Silent	SNP	C	T	T	rs146246704		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:126708282C>T	uc003ejg.3	+	0	846	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	282	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.A282S(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGTCCAAGATCGTGCGGCTCT	0.602000														93			55		0	0	0.000781405	0	0
AIDA	64853	broad.mit.edu	37	1	222860273	222860274	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:222860273_222860274GG>TT	uc001hnn.3	-	6	665	c.460_splice	c.e6+1	p.G154_splice	AIDA_uc001hno.3_Splice_Site|AIDA_uc010pus.2_Splice_Site_p.G130_splice	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	Homo sapiens axin interactor, dorsalization associated (AIDA), mRNA.	154	Axin-binding (By similarity).				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GATACCTACCGGGAACTCTAGC	0.416000														213			6		0	0	6.4e-05	0	0
NOD2	64127	broad.mit.edu	37	16	50763758	50763758	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:50763758G>A	uc002egm.1	+	10	3101	c.2996G>A	c.(2995-2997)gGg>gAg	p.G999E	NOD2_uc010vgq.1_Missense_Mutation_p.G44E	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	999					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACCTACCTAGGGGCAGAAGCC	0.493000														22			16		0	0	0.000566183	0	0
GPR142	350383	broad.mit.edu	37	17	72367905	72367905	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:72367905C>T	uc021ucp.1	+	3	555	c.546C>T	c.(544-546)gcC>gcT	p.A182A	GPR142_uc010wqy.2_Silent_p.A185A	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	185						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGCGCCTTGCCACCAGGACCA	0.627000														38			19		0	0	0.000132079	0	0
KCNB2	9312	broad.mit.edu	37	8	73480030	73480030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:73480030C>T	uc003xzb.3	+	1	649	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	21					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTTCCCTTCCTCCAGAGCC	0.522000														47			45		0	0	0.000781405	0	0
SERPINA13	388007	broad.mit.edu	37	14	95107896	95107896	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:95107896C>T	uc001ydt.3	+	1	501	c.413C>T	c.(412-414)tCc>tTc	p.S138F						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						GTGAGCATCTCCCTGGCCTTG	0.587000														4			6		0	0	3.59834e-05	0	0
DOCK7	85440	broad.mit.edu	37	1	63005462	63005462	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:63005462G>A	uc001daq.3	-	25	3181	c.3147C>T	c.(3145-3147)gtC>gtT	p.V1049V	DOCK7_uc001dan.3_Silent_p.V910V|DOCK7_uc001dao.3_Silent_p.V910V|DOCK7_uc001dap.3_Silent_p.V1018V|DOCK7_uc001dam.3_Silent_p.V229V	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1049					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAATCGTGCTGACAAGAGCTG	0.373000														24			20		0	0	0.000229342	0	0
LENG8	114823	broad.mit.edu	37	19	54966176	54966176	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:54966176C>T	uc002qfv.1	+	5	759	c.615C>T	c.(613-615)ccC>ccT	p.P205P	LENG8_uc002qfw.2_Silent_p.P242P			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	205							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGAAGCGACCCTTTGCTGTTA	0.597000														20			11		0	0	6.40141e-05	0	0
HOMER2	9455	broad.mit.edu	37	15	83544130	83544130	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:83544130C>T	uc002bjg.3	-	2	378	c.189G>A	c.(187-189)ccG>ccA	p.P63P	HOMER2_uc002bjh.3_Silent_p.P63P	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	63	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		p.P126P(1)|p.P63P(1)		cervix(1)|endometrium(2)|lung(6)	9						AGGTCATATTCGGTGTGATTG	0.438000														28			16		0	0	0.000422831	0	0
PITX2	5308	broad.mit.edu	37	4	111539826	111539826	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:111539826G>A	uc003iaf.3	-	6	2232	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	PITX2_uc003iac.3_Missense_Mutation_p.R144W|PITX2_uc003iad.3_Missense_Mutation_p.R137W|PITX2_uc021xqr.1_Missense_Mutation_p.R137W|PITX2_uc003iae.3_Missense_Mutation_p.R91W|PITX2_uc021xqs.1_Missense_Mutation_p.R91W	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	137			R -> P (in RIEG1).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CATTTGGCCCGACGATTCTTG	0.572000														36			34		0	0	0.000270559	0	0
CYTIP	9595	broad.mit.edu	37	2	158290911	158290911	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:158290911C>T	uc002tzj.1	-	2	322	c.250G>A	c.(250-252)Gat>Aat	p.D84N	CYTIP_uc010zcl.1_5'UTR	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	84	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GTTTCATTATCCTGCTTCTCC	0.333000														36			48		0	0	0.000781405	0	0
MPP7	143098	broad.mit.edu	37	10	28420578	28420578	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:28420578C>T	uc001iua.1	-	7	762	c.358G>A	c.(358-360)Gac>Aac	p.D120N	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.D120N|MPP7_uc009xla.2_Missense_Mutation_p.D120N|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	120	L27 2.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AACACTGGGTCGTAATTCTTC	0.358000														34			29		0	0	0.000409698	0	0
RNF5	6048	broad.mit.edu	37	6	32147810	32147811	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32147810_32147811GG>TT	uc003oaj.4	+	4	479_480	c.352_353GG>TT	c.(352-354)ggg>TTg	p.G118L	AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	Homo sapiens ring finger protein 5 (RNF5), mRNA.	118					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						TGGTGATACCGGGGGCTTCCAC	0.515000														815			19		0	0	6.4e-05	0	0
PSG8	440533	broad.mit.edu	37	19	43268142	43268142	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:43268142G>A	uc002ouo.2	-	1	454	c.356C>T	c.(355-357)tCc>tTc	p.S119F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.S119F|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	119	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TAAGGTGTAGGATCCTGCGTC	0.443000														157			128		0	0	0.000781405	0	0
MRPS17	51373	broad.mit.edu	37	7	56022659	56022660	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:56022659_56022660GG>TT	uc003trd.3	+	2	211_212	c.181_182GG>TT	c.(181-183)ggg>TTg	p.G61L		NM_015969	NP_057053	Q9Y2R5	RT17_HUMAN	Homo sapiens mitochondrial ribosomal protein S17 (MRPS17), nuclear gene encoding mitochondrial protein, mRNA.	61					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGCACAGTTGGGGATATTGTG	0.436000														372			9		0	0	6.4e-05	0	0
OR2A5	393046	broad.mit.edu	37	7	143748394	143748394	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:143748394C>T	uc011ktw.2	+	0	900	c.900C>T	c.(898-900)gcC>gcT	p.A300A		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G299R(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCAAGGGTGCCCTGAAAAGAG	0.493000														77			5		0	0	0.000157383	0	0
CFH	3075	broad.mit.edu	37	1	196857321	196857321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:196857321C>T	uc001gtp.3	+	0	178	c.41C>T	c.(40-42)tCc>tTc	p.S14F	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.S14F|CFH_uc001gto.3_Missense_Mutation_p.S14F	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	1151					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGTGGGTTTCCTGTGCTAAT	0.343000														16			11		0	0	0.000151284	0	0
HIF3A	64344	broad.mit.edu	37	19	46825115	46825115	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:46825115C>T	uc002peh.3	+	9	1258	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	HIF3A_uc002peg.4_Silent_p.F409F|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.F353F|HIF3A_uc002pej.2_Silent_p.F340F|HIF3A_uc010xxy.2_Silent_p.F340F|HIF3A_uc002pel.3_Silent_p.F407F|HIF3A_uc010xxz.2_Silent_p.F358F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCGCCGTTTCTGCAGCCCTG	0.687000														42			29		0	0	0.000339439	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101572563	101572563	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:101572563C>T	uc003knm.3	-	12	2461	c.2174G>A	c.(2173-2175)tGa>tAa	p.*725*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	0					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTTCCCATTTCACCCTTCTTT	0.378000														31			19		0	0	0.000175454	0	0
RPL26L1	51121	broad.mit.edu	37	5	172396539	172396539	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:172396539G>A	uc003mcc.3	+	3	475	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Homo sapiens ribosomal protein L26-like 1 (RPL26L1), mRNA.	145					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAAATGCAGGAATAAATAGA	0.388000														65			13		0	0	0.000422831	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	A	A	rs1851732	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:25161457G>A	uc001upm.3	+	7		c.981G>A			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TTATTTATTCGATTCGTGGTA	0.378000														32			5		0	0	8.12818e-05	0	0
HYDIN	54768	broad.mit.edu	37	16	70871611	70871612	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:70871611_70871612CC>TT	uc002ezr.3	-	76	13371_13372	c.13220_13221GG>AA	c.(13219-13221)ggg>gAA	p.G4407E	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4408										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGTACCCTTCCCTTTGATTTC	0.460000														26			16		0	0	6.4e-05	0	0
LRP1B	53353	broad.mit.edu	37	2	141777598	141777598	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:141777598C>T	uc002tvj.1	-	11	2835	c.1863G>A	c.(1861-1863)agG>agA	p.R621R	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	621					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAATGGTTTTCCTATGGCCAT	0.418000										TSP Lung(27;0.18)				20			17		0	0	0.000958276	0	0
GP2	2813	broad.mit.edu	37	16	20335499	20335499	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:20335499G>A	uc002dgv.3	-	2	257	c.174C>T	c.(172-174)gtC>gtT	p.V58V	GP2_uc002dgw.3_Silent_p.V58V|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	58						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGTCAAAACAGACATGAGCCT	0.552000														28			28		0	0	0.000227799	0	0
COASY	80347	broad.mit.edu	37	17	40715023	40715024	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:40715023_40715024CG>AT	uc010cyj.3	+	2	672_673	c.470_471CG>AT	c.(469-471)ccg>cAT	p.P157H	COASY_uc002hzz.3_Missense_Mutation_p.P128H|COASY_uc002iab.3_5'UTR|COASY_uc002iad.3_Missense_Mutation_p.P128H|COASY_uc002iac.3_Missense_Mutation_p.P128H|COASY_uc002iae.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	128					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGTACAACCCGGTCAAACAGC	0.569000														226			6		0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120462982	120462983	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:120462982_120462983GG>TT	uc001eik.3	-	29	5645_5646	c.5348_5349CC>AA	c.(5347-5349)ccc>cAA	p.P1783Q		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1783					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCGATCAATGGGGTCATCTTC	0.540000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					404			9		0	0	6.4e-05	0	0
OR6C74	254783	broad.mit.edu	37	12	55641164	55641164	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:55641164C>T	uc010spg.2	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCCTTTTTTTCACCTACATGT	0.378000														41			28		0	0	0.000878237	0	0
TLL1	7092	broad.mit.edu	37	4	166996085	166996085	+	Silent	SNP	G	A	A	rs115884871	byFrequency	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:166996085G>A	uc003irh.2	+	16	2891	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	TLL1_uc011cjn.2_Silent_p.T771T|TLL1_uc011cjo.2_Silent_p.T572T	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGTCAACACGATGGGGAGCT	0.383000														35			26		0	0	0.00047179	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636268	74636268	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:74636268G>A	uc002axt.2	-	3	846	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	CYP11A1_uc002axs.2_Nonsense_Mutation_p.Q73*|CYP11A1_uc010bjm.1_Nonsense_Mutation_p.Q73*|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Nonsense_Mutation_p.Q11*	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	231					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ATGAATCGCTGGGCCTCGGGG	0.562000														57			44		0	0	0.000781405	0	0
TNKS	8658	broad.mit.edu	37	8	9437709	9437710	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:9437709_9437710GG>TT	uc003wss.3	+	1	719_720	c.714_715GG>TT	c.(712-717)atgggt>atTTgt	p.238_239MG>IC	TNKS_uc011kwv.1_Missense_Mutation_p.238_239MG>IC|TNKS_uc011kww.2_Missense_Mutation_p.1_2MG>IC	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	238					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TACTACAGATGGGTGCTAATGT	0.396000														161			9		0	0	6.4e-05	0	0
CTNNA3	29119	broad.mit.edu	37	10	67748450	67748450	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:67748450C>T	uc009xpn.1	-	16	2388	c.2265_splice	c.e16+1	p.Q755_splice	CTNNA3_uc001jmw.2_Splice_Site_p.Q755_splice	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	755					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGTAACTCACCTGATTAGCAA	0.378000														43			36		0	0	0.000191422	0	0
DISP1	84976	broad.mit.edu	37	1	223176933	223176934	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:223176933_223176934GG>TT	uc001hnu.2	+	9	2520_2521	c.2194_2195GG>TT	c.(2194-2196)ggg>TTg	p.G732L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	732					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACTGTAGGTGGGGCCTACATT	0.426000														629			19		0	0	6.4e-05	0	0
CCDC63	160762	broad.mit.edu	37	12	111321968	111321968	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:111321968G>A	uc001trv.1	+	7	1183	c.988G>A	c.(988-990)Gag>Aag	p.E330K	CCDC63_uc010sye.1_Missense_Mutation_p.E290K|CCDC63_uc001trw.1_Missense_Mutation_p.E245K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	330								p.K329T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTGGCCAAGGAGGAGAAGAA	0.532000														50			30		0	0	0.000409698	0	0
PC	5091	broad.mit.edu	37	11	66617523	66617523	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:66617523C>A	uc001ojn.1	-	17	2832	c.2783G>T	c.(2782-2784)cGg>cTg	p.R928L	PC_uc001ojo.1_Missense_Mutation_p.R928L|PC_uc001ojp.1_Missense_Mutation_p.R928L	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	928					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGCCTCTGCCCGGCTCAATCC	0.637000														84			8		0.000157383	0.00224144	0.000157383	1	0
PPP1R3B	79660	broad.mit.edu	37	8	8998818	8998818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:8998818G>A	uc022arp.1	-	0	344	c.344C>T	c.(343-345)tCc>tTc	p.S115F	PPP1R3B_uc003wsn.4_Missense_Mutation_p.S115F|PPP1R3B_uc003wso.4_Missense_Mutation_p.S115F	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	115					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)		AGAGGGCTGGGAAAAATCCAG	0.498000														46			41		0	0	0.000228196	0	0
GCC1	79571	broad.mit.edu	37	7	127222106	127222106	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:127222106G>A	uc003vma.3	-	1	2708	c.2290C>T	c.(2290-2292)Cca>Tca	p.P764S		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	764						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCACTGGTTGGGAGTCGCATT	0.517000														31			120		0	0	0.000781405	0	0
CDH8	1006	broad.mit.edu	37	16	61687766	61687766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:61687766G>A	uc002eog.2	-	11	3101	c.2146C>T	c.(2146-2148)Cca>Tca	p.P716S		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	716					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P716S(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACACCATTTGGAACTGGAGCA	0.413000														42			24		0	0	0.000375601	0	0
NEB	4703	broad.mit.edu	37	2	152382515	152382516	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:152382515_152382516CG>AT	uc021vrb.1	-	120	17043_17044	c.17014_17015CG>AT	c.(17014-17016)cgg>ATg	p.R5672M	NEB_uc002txr.3_Missense_Mutation_p.R2138M|NEB_uc002txu.3_Missense_Mutation_p.R7373M|NEB_uc021vrc.1_Missense_Mutation_p.R7373M|NEB_uc010fnx.3_Missense_Mutation_p.R5660M|NEB_uc021vrd.1_Missense_Mutation_p.R5672M|NEB_uc002txt.4_Missense_Mutation_p.R177M	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5672					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.R5672R(2)|p.R5672Q(2)|p.R5672L(2)|p.R7373L(1)|p.R7373R(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACAGTGTCCCGGGTCTCTGGT	0.490000														274			7		0	0	6.4e-05	0	0
EPG5	57724	broad.mit.edu	37	18	43534931	43534931	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:43534931G>A	uc002lbm.3	-	1	537	c.437C>T	c.(436-438)tCg>tTg	p.S146L	EPG5_uc002lbo.1_Missense_Mutation_p.S146L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	146					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACCTTGTACCGACATATTTTC	0.428000														61			29		0	0	0.000279167	0	0
KDM2B	84678	broad.mit.edu	37	12	121880284	121880284	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:121880284G>A	uc001uat.3	-	18	3064	c.2960C>T	c.(2959-2961)cCc>cTc	p.P987L	KDM2B_uc010szy.2_Missense_Mutation_p.P427L|KDM2B_uc001uaq.3_Missense_Mutation_p.P427L|KDM2B_uc001uar.3_Missense_Mutation_p.P578L|KDM2B_uc001uas.3_Missense_Mutation_p.P918L|KDM2B_uc021rfd.1_Missense_Mutation_p.P918L|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.P987L|KDM2B_uc001uao.3_Missense_Mutation_p.P235L|KDM2B_uc010szx.2_Missense_Mutation_p.P235L|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	987					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GATGCCCGGGGGCCGCTTGGG	0.706000														14			12		0	0	0.00010058	0	0
DICER1	23405	broad.mit.edu	37	14	95582790	95582790	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:95582790C>T	uc001ydw.2	-	11	1964	c.1752_splice	c.e11+1	p.K584_splice	DICER1_uc021sbc.1_Splice_Site_p.K584_splice|DICER1_uc001ydv.2_Splice_Site_p.K574_splice|DICER1_uc001ydx.2_Splice_Site_p.K584_splice	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	584	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTGATCTTACCTTTTCAATAG	0.328000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					64			49		0	0	0.000781405	0	0
GYS2	2998	broad.mit.edu	37	12	21721862	21721862	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:21721862C>T	uc001rfb.3	-	4	1015	c.760G>A	c.(760-762)Gtg>Atg	p.V254M		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	254					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.V254M(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGGTGAACACGTGAGCGCAA	0.428000														37			25		0	0	0.000375601	0	0
D2HGDH	728294	broad.mit.edu	37	2	242681921	242681921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:242681921C>T	uc002wce.1	+	3	595	c.422C>T	c.(421-423)cCc>cTc	p.P141L	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.P7L|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	141	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCAGCGTCCCCGTCTTTGAC	0.652000														16			13		0	0	0.00010058	0	0
POM121L12	285877	broad.mit.edu	37	7	53103445	53103445	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:53103445C>G	uc003tpz.3	+	0	97	c.81C>G	c.(79-81)gaC>gaG	p.D27E		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	27										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AAGGCCCCGACGCCCTGGCGG	0.701000														16			15		0	0	0.000219431	0	0
SAMD11	148398	broad.mit.edu	37	1	877579	877579	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:877579C>T	uc001abw.1	+	8	1013	c.933C>T	c.(931-933)ccC>ccT	p.P311P	SAMD11_uc001abx.1_Silent_p.P174P	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	311						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCCTGGGCCCCCATCTCAGGC	0.746000														10			4		0	0	0.00024832	0	0
KALRN	8997	broad.mit.edu	37	3	123946845	123946845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:123946845C>T	uc003ehg.3	+	1	203	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	KALRN_uc010hrv.1_Missense_Mutation_p.R26W|KALRN_uc003ehf.1_Missense_Mutation_p.R26W|KALRN_uc011bjy.1_Missense_Mutation_p.R26W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	26					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R26L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGGTCTTTTCGGAATGATGG	0.483000														76			58		0	0	0.000781405	0	0
RIOK2	55781	broad.mit.edu	37	5	96504523	96504523	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:96504523A>T	uc003kmz.3	-	6	923	c.813T>A	c.(811-813)gaT>gaA	p.D271E	RIOK2_uc003kna.3_Missense_Mutation_p.D271E	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	271	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TCATAAAGAAATCTTTAATGC	0.318000														55			36		0	0	0.00058488	0	0
DOCK8	81704	broad.mit.edu	37	9	418204	418204	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:418204C>T	uc003zgf.2	+	29	3949	c.3837C>T	c.(3835-3837)tcC>tcT	p.S1279S	DOCK8_uc022bcu.1_Silent_p.S1211S|DOCK8_uc010mgv.3_Silent_p.S1179S|DOCK8_uc010mgu.3_Silent_p.S581S|DOCK8_uc003zgk.2_Silent_p.S737S	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1279					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGCTGTCTTCCTTGGTATGTT	0.398000														120			174		0	0	0.000781405	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687663	27687663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:27687663G>A	uc001itu.2	-	3	1982	c.1864C>T	c.(1864-1866)Cat>Tat	p.H622Y		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	622					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCTGCACATGGAAACACCCA	0.373000														34			34		0	0	0.000814825	0	0
SELL	6402	broad.mit.edu	37	1	169660933	169660933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:169660933G>A	uc010pls.2	-	6	1079	c.970C>T	c.(970-972)Cca>Tca	p.P324S	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.P384S	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	371					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ATTTAATATGGGTCATTCATA	0.323000														11			8		0	0	0.000442599	0	0
RUNX2	860	broad.mit.edu	37	6	45459784	45459784	+	Silent	SNP	G	A	A	rs12173874		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:45459784G>A	uc011dvx.2	+	5	1002	c.792G>A	c.(790-792)caG>caA	p.Q264Q	RUNX2_uc011dvy.2_Silent_p.Q264Q|RUNX2_uc003oxt.3_Silent_p.Q250Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	264	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCCCGCCTCAGAACCCACGGC	0.488000														36			64		0	0	0.000781405	0	0
TSGA13	114960	broad.mit.edu	37	7	130364065	130364066	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:130364065_130364066GG>TT	uc003vqi.3	-	4	771_772	c.314_315CC>AA	c.(313-315)ccc>cAA	p.P105Q	TSGA13_uc003vqj.3_Missense_Mutation_p.P105Q	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	105										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGATTGAGCAGGGAGGTGGGTT	0.431000														842			13		0	0	6.4e-05	0	0
FAM125A	93343	broad.mit.edu	37	19	17531349	17531349	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:17531349C>T	uc002ngo.1	+	2	225	c.192C>T	c.(190-192)aaC>aaT	p.N64N	FAM125A_uc002ngn.1_Silent_p.N64N|FAM125A_uc002ngq.1_5'Flank	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	Homo sapiens family with sequence similarity 125, member A (FAM125A), mRNA.	64	MABP.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	8						ACCCCCAGAACCCGCAGGAGA	0.667000														14			15		0	0	0.000422831	0	0
C8orf37	157657	broad.mit.edu	37	8	96264445	96264446	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:96264445_96264446CC>AA	uc003yho.2	-	4	485_486	c.440_441GG>TT	c.(439-441)tgg>tTT	p.W147F		NM_177965	NP_808880	Q96NL8	CH037_HUMAN	Homo sapiens chromosome 8 open reading frame 37 (C8orf37), mRNA.	147										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					ACGATTTGTCCCACATATAGTC	0.327000														362			11		0	0	6.4e-05	0	0
E2F3	1871	broad.mit.edu	37	6	20490470	20490471	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:20490470_20490471CC>AA	uc003nda.2	+	6	1534_1535	c.1207_1208CC>AA	c.(1207-1209)cca>AAa	p.P403K	E2F3_uc021ymj.1_Missense_Mutation_p.P272K	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	403	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TCTGGCCTCCCCAGCCAACCTC	0.475000														656			12		0	0	6.4e-05	0	0
PCDH12	51294	broad.mit.edu	37	5	141335158	141335158	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:141335158C>T	uc003llx.3	-	0	3470	c.2259G>A	c.(2257-2259)cgG>cgA	p.R753R		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	753				R -> W (in Ref. 4; BAB14677).	neuron recognition	integral to plasma membrane	calcium ion binding	p.R753W(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCGGCCTCCCGACAGTTGT	0.582000														25			20		0	0	0.000229342	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373830	81373830	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:81373830G>A	uc009xry.3	+	5	835	c.753G>A	c.(751-753)agG>agA	p.R251R	SFTPA1_uc001kap.3_Silent_p.R236R|SFTPA1_uc001kar.3_Silent_p.R236R|SFTPA1_uc001kaq.3_Silent_p.R236R|SFTPA1_uc001kao.3_Silent_p.R202R|SFTPA1_uc021puu.1_Silent_p.R187R|SFTPA1_uc010qlt.2_Silent_p.R177R|SFTPA1_uc009xrz.3_Silent_p.R166R	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	236					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGAATGACAGGAACTGCCTGT	0.582000														32			37		0	0	0.000228196	0	0
TM4SF18	116441	broad.mit.edu	37	3	149042780	149042780	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:149042780G>A	uc021xfl.1	-	2	387	c.297C>T	c.(295-297)ctC>ctT	p.L99L	TM4SF18_uc003exa.3_Silent_p.L99L	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	99						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAGCAATTCCGAGGGAAGAAA	0.433000														21			8		0	0	0.000442599	0	0
C12orf51	283450	broad.mit.edu	37	12	112638535	112638535	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:112638535G>A	uc021reb.1	-	54	8468	c.8072C>T	c.(8071-8073)cCt>cTt	p.P2691L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CATGTCAATAGGATACCAGTA	0.483000														31			34		0	0	0.000814825	0	0
GUCA1B	2979	broad.mit.edu	37	6	42152631	42152631	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:42152631C>T	uc003orz.3	-	3	661	c.525G>A	c.(523-525)tgG>tgA	p.W175*		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA.	175	EF-hand 4.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TCTTCATCACCCACTTGTCCC	0.577000														76			48		0	0	0.000781405	0	0
C17orf67	339210	broad.mit.edu	37	17	54892245	54892246	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:54892245_54892246GG>TT	uc010dci.3	-	1	340_341	c.212_213CC>AA	c.(211-213)ccc>cAA	p.P71Q	C17orf67_uc002iuq.3_Non-coding_Transcript	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN	Homo sapiens chromosome 17 open reading frame 67 (C17orf67), mRNA.	71						extracellular region		p.P71P(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TTGGCTCATCGGGGAATCCGGG	0.490000														568			13		0	0	6.4e-05	0	0
NTS	4922	broad.mit.edu	37	12	86276090	86276090	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:86276090G>A	uc001tag.3	+	3	559	c.450G>A	c.(448-450)cgG>cgA	p.R150R		NM_006183	NP_006174	P30990	NEUT_HUMAN	Homo sapiens neurotensin (NTS), mRNA.	150					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						TTCTGAAACGGCAGCTGTATG	0.323000														90			69		0	0	0.000781405	0	0
GAGE10	643832	broad.mit.edu	37	X	49173731	49173731	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:49173731C>T	uc010nir.1	+	3	408	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	Homo sapiens G antigen 10 (GAGE10), mRNA.	98										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GGAGATGGGCCTGCCAAATCC	0.483000														6			78		0	0	0.000781405	0	0
ITGB6	3694	broad.mit.edu	37	2	161052834	161052834	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:161052834G>A	uc002ubh.2	-	2	254	c.239C>T	c.(238-240)tCc>tTc	p.S80F	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.S80F|ITGB6_uc010zcq.1_Missense_Mutation_p.S38F|ITGB6_uc010fov.1_Missense_Mutation_p.S80F	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	80					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCTACTTGGGAGACAGGGTT	0.393000														90			78		0	0	0.000781405	0	0
MUC4	4585	broad.mit.edu	37	3	195516204	195516204	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:195516204C>T	uc021xjp.1	-	1	2403	c.2247G>A	c.(2245-2247)ggG>ggA	p.G749G	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Silent_p.G631G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	754					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTTCTGGGCCCCCTGGTGTTG	0.602000														54			47		0	0	0.000781405	0	0
CFB	629	broad.mit.edu	37	6	31896623	31896624	+	Missense_Mutation	DNP	GG	TT	TT	rs149324266		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31896623_31896624GG>TT	uc003nyf.3	+	2	635_636	c.371_372GG>TT	c.(370-372)cgg>cTT	p.R124L	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R124L|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.R95L|CFB_uc011dor.2_Intron	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	138	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTCATATTGCGGGGCTCGCCTG	0.574000														573			17		0	0	6.4e-05	0	0
FAIM	55179	broad.mit.edu	37	3	138351814	138351815	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:138351814_138351815GG>TT	uc003esr.3	+	4	693_694	c.433_434GG>TT	c.(433-435)ggg>TTg	p.G145L	FAIM_uc003esq.3_Missense_Mutation_p.G167L|FAIM_uc003esp.3_Missense_Mutation_p.G179L|FAIM_uc003ess.3_Missense_Mutation_p.G145L	NM_001033032	NP_060617	Q9NVQ4	FAIM1_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA.	145					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						CTTCAGTATCGGGAACCATGAC	0.416000														361			7		0	0	6.4e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000871	204000872	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:204000871_204000872CC>AA	uc002uzt.3	+	26	4531_4532	c.4198_4199CC>AA	c.(4198-4200)cca>AAa	p.P1400K	NBEAL1_uc021vvj.1_Missense_Mutation_p.P103K	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1400							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACACCATCCCCAGTAGAGTCT	0.426000														330			16		0	0	6.4e-05	0	0
CRB1	23418	broad.mit.edu	37	1	197396720	197396720	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:197396720G>A	uc001gtz.3	+	6	2474	c.2265G>A	c.(2263-2265)ttG>ttA	p.L755L	CRB1_uc010poz.2_Silent_p.L686L|CRB1_uc009wza.3_Silent_p.L643L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.L236L|CRB1_uc001gub.1_Silent_p.L404L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	755	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.A754D(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCTAGCTTTGGAAAACAGCA	0.433000														16			12		0	0	0.00010058	0	0
C15orf44	81556	broad.mit.edu	37	15	65890678	65890678	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:65890678G>A	uc010uix.2	-	5	1225	c.837C>T	c.(835-837)atC>atT	p.I279I	C15orf44_uc002apd.3_Silent_p.I243I|C15orf44_uc010uja.2_Silent_p.I226I|C15orf44_uc010ujb.2_Silent_p.I186I|C15orf44_uc002ape.4_Silent_p.I243I|C15orf44_uc010uiy.2_Silent_p.I164I|C15orf44_uc010uiz.2_Silent_p.I207I			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	243										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						TGACTTTAGGGATAGGATCAA	0.383000														33			24		0	0	0.000720815	0	0
CACNA1C	775	broad.mit.edu	37	12	2774773	2774773	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:2774773C>T	uc009zdu.1	+	37	4882	c.4569C>T	c.(4567-4569)atC>atT	p.I1523I	CACNA1C_uc001qkc.2_Silent_p.I1475I|CACNA1C_uc001qjz.2_Silent_p.I1475I|CACNA1C_uc001qkd.2_Silent_p.I1475I|CACNA1C_uc001qke.2_Silent_p.I1464I|CACNA1C_uc001qkf.2_Silent_p.I1464I|CACNA1C_uc009zdw.1_Silent_p.I1497I|CACNA1C_uc001qkg.2_Silent_p.I1462I|CACNA1C_uc001qkh.2_Silent_p.I1464I|CACNA1C_uc001qkl.2_Silent_p.I1523I|CACNA1C_uc001qkj.2_Silent_p.I1475I|CACNA1C_uc001qkk.2_Silent_p.I1475I|CACNA1C_uc001qkn.2_Silent_p.I1475I|CACNA1C_uc001qkm.2_Silent_p.I1464I|CACNA1C_uc001qko.2_Silent_p.I1495I|CACNA1C_uc001qkp.2_Silent_p.I1475I|CACNA1C_uc001qkq.2_Silent_p.I1503I|CACNA1C_uc001qku.2_Silent_p.I1475I|CACNA1C_uc001qkr.2_Silent_p.I1492I|CACNA1C_uc001qks.2_Silent_p.I1475I|CACNA1C_uc001qkt.2_Silent_p.I1475I|CACNA1C_uc009zdv.1_Silent_p.I1472I|CACNA1C_uc001qkb.2_Silent_p.I1475I|CACNA1C_uc001qki.1_Silent_p.I1211I|CACNA1C_uc010sea.1_Silent_p.I166I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1523	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TAGCTGTCATCATGGACAACT	0.512000														37			35		0	0	0.000228196	0	0
LGI2	55203	broad.mit.edu	37	4	25005432	25005432	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:25005432G>A	uc003grf.2	-	7	1378	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	427						extracellular region		p.R427*(2)|p.R427Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTTTGCATTCGGAAGCTCTTC	0.522000														115			93		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9090826	9090826	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:9090826G>A	uc002mkp.3	-	0	1193	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	330	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTGTCATGGAAAAAGGGAT	0.527000														47			30		0	0	0.000147802	0	0
COQ10A	93058	broad.mit.edu	37	12	56662922	56662922	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:56662922C>T	uc001sko.4	+	2	622	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	COQ10A_uc001skp.4_Silent_p.L89L|COQ10A_uc001skq.4_Silent_p.L104L	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN	Homo sapiens coenzyme Q10 homolog A (S. cerevisiae) (COQ10A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	121						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TAAGAAGTCTCTGGTGGTATC	0.502000														73			64		0	0	0.000781405	0	0
MAGI1	9223	broad.mit.edu	37	3	65361455	65361455	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:65361455C>T	uc003dmn.3	-	17	3687	c.3161G>A	c.(3160-3162)gGa>gAa	p.G1054E	MAGI1_uc003dmm.3_Missense_Mutation_p.G1082E|MAGI1_uc003dmo.3_Missense_Mutation_p.G1083E|MAGI1_uc003dmp.3_Intron	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1083	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AACTGTGTTTCCCGCTTCCTT	0.448000														79			149		0	0	0.000781405	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269319	150269319	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:150269319A>T	uc003whl.3	+	2	243	c.161A>T	c.(160-162)aAa>aTa	p.K54I	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.K68I	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	54							GTP binding	p.R53Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTGGCCGGAAAGTGTTTCAT	0.468000														12			19		0	0	0.000132079	0	0
FAM161B	145483	broad.mit.edu	37	14	74411480	74411480	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:74411480G>A	uc001xpd.2	-	2	871	c.483C>T	c.(481-483)agC>agT	p.S161S		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AGGAGCTGACGCTTCTGTGCT	0.652000														15			15		0	0	0.000308642	0	0
CPXM2	119587	broad.mit.edu	37	10	125521640	125521640	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:125521640G>A	uc001lhk.1	-	10	1850	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	509					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGCACAAAAGGGATTTTTTCC	0.577000														48			40		0	0	0.000319135	0	0
OR52E2	119678	broad.mit.edu	37	11	5079910	5079910	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:5079910C>T	uc010qyw.2	-	0	948	c.948G>A	c.(946-948)aaG>aaA	p.K316K		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTACTCTTCCTTTTCCATTC	0.338000														38			25		0	0	0.000586117	0	0
TAF1A	9015	broad.mit.edu	37	1	222750876	222750877	+	Missense_Mutation	DNP	CG	AT	AT	rs145721552	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:222750876_222750877CG>AT	uc009xdz.2	-	4	723_724	c.514_515CG>AT	c.(514-516)cgg>ATg	p.R172M	TAF1A_uc001hni.2_Missense_Mutation_p.R58M|TAF1A_uc001hnj.3_Missense_Mutation_p.R172M|TAF1A_uc010pur.2_Missense_Mutation_p.R172M	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.R172R(2)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TAATATTTCCCGGGAAGACGTA	0.381000														646			12		0	0	6.4e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32010368	32010368	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32010368G>A	uc003nzl.2	-	39	12270	c.12068C>T	c.(12067-12069)cCc>cTc	p.P4023L	TNXB_uc003nzg.1_Missense_Mutation_p.P454L|TNXB_uc003nzh.1_Missense_Mutation_p.P492L	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4070	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGGAAGGGGATCCGCAG	0.701000														208			74		0	0	0.000781405	0	0
MORC1	27136	broad.mit.edu	37	3	108682299	108682299	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:108682299G>A	uc003dxl.3	-	26	2848	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	MORC1_uc011bhn.2_Missense_Mutation_p.R900C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	921					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGTTTTATACGAAGATTCTTC	0.358000														59			42		0	0	0.000781405	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628572	173628572	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:173628572C>T	uc001gja.1	-	2	47	c.-14_splice	c.e2-1		ANKRD45_uc001gjb.4_Splice_Site	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.											NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TCCAAAAATACCTATGACCAA	0.328000														12			17		0	0	0.000375601	0	0
PHF21B	112885	broad.mit.edu	37	22	45309868	45309868	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:45309868G>A	uc003bfn.3	-	4	816	c.665C>T	c.(664-666)cCt>cTt	p.P222L	PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	222							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		gaggggtgaaggggacagtga	0.647000														35			25		0	0	0.00047179	0	0
SRPK1	6732	broad.mit.edu	37	6	35803137	35803137	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:35803137G>A	uc003olj.3	-	15	2036	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S	SRPK1_uc003olh.3_Missense_Mutation_p.P531S|SRPK1_uc003oli.3_Missense_Mutation_p.P531S|SRPK1_uc011dtg.2_Missense_Mutation_p.P622S	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	638	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.P637A(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CTCTTCTCAGGGATCAGCTCC	0.567000														52			11		0	0	6.40141e-05	0	0
SCN9A	6335	broad.mit.edu	37	2	167133802	167133802	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:167133802C>T	uc010fpl.3	-	15	2873	c.2532G>A	c.(2530-2532)ctG>ctA	p.L844L	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	855						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGATCTTAATCAGCATGTTCA	0.398000														22			9		0	0	0.000274275	0	0
TACC2	10579	broad.mit.edu	37	10	123845365	123845365	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:123845365T>A	uc001lfv.3	+	3	3710	c.3350T>A	c.(3349-3351)tTc>tAc	p.F1117Y	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.F1117Y|TACC2_uc010qtv.2_Missense_Mutation_p.F1117Y	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1117						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTGCAAGTTTCCCATCAGCT	0.617000														43			15		0	0	0.000422831	0	0
RNF5	6048	broad.mit.edu	37	6	32147894	32147895	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32147894_32147895CG>AT	uc003oaj.4	+	4	563_564	c.436_437CG>AT	c.(436-438)cgg>ATg	p.R146M	AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	Homo sapiens ring finger protein 5 (RNF5), mRNA.	146					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						GCCTTTCCGCCGGGGTACAGGT	0.559000														565			10		0	0	6.4e-05	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004998	153004998	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:153004998C>T	uc001fba.3	+	1	241	c.177C>T	c.(175-177)ccC>ccT	p.P59P	SPRR1B_uc021ozp.1_Silent_p.P59P	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	59	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCAGCCCAAGGTTCCAG	0.617000														49			34		0	0	0.000692331	0	0
CD40	958	broad.mit.edu	37	20	44751836	44751836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:44751836G>A	uc002xrg.1	+	4	552	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	CD40_uc002xrf.1_3'UTR|CD40_uc002xrh.1_Missense_Mutation_p.E159K|CD40_uc002xrj.1_Intron|CD40_uc002xrk.1_Intron	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	159					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	p.E159K(2)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	ATCTGCTTTCGAAAAATGTCA	0.532000									Immune Deficiency with Hyper-IgM					100			75		0	0	0.000781405	0	0
FRMD7	90167	broad.mit.edu	37	X	131218544	131218544	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:131218544G>A	uc004ewn.3	-	7	893	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F	FRMD7_uc022cdy.1_Missense_Mutation_p.L119F|FRMD7_uc011muy.2_Missense_Mutation_p.L224F	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	239	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGTTTGATGAGAAAATGCTTT	0.323000														5			45		0	0	0.000781405	0	0
F2RL3	9002	broad.mit.edu	37	19	17000638	17000638	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:17000638G>A	uc002nfa.3	+	1	539	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	122					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGCGGCTGCTGACCTCCTGCT	0.751000														2			13		0	0	0.000219431	0	0
C12orf12	196477	broad.mit.edu	37	12	91347349	91347349	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:91347349G>A	uc001tbj.3	-	0	1605	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	391										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GGCACTTTGGGAATTATCTGC	0.413000														37			30		0	0	0.000692331	0	0
NBPF7	343505	broad.mit.edu	37	1	120378786	120378787	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:120378786_120378787CG>AT	uc010oxk.2	-	6	1580_1581	c.959_960CG>AT	c.(958-960)ccg>cAT	p.P320H		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	320	NBPF 2.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CCCTTTCCTCCGGGGAGTCCTG	0.480000														312			8		0	0	6.4e-05	0	0
EXOC5	10640	broad.mit.edu	37	14	57710979	57710979	+	Silent	SNP	G	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:57710979G>T	uc001xct.3	-	3	620	c.369C>A	c.(367-369)ccC>ccA	p.P123P	EXOC5_uc010trg.2_Silent_p.P68P|EXOC5_uc010trh.2_Intron	NM_006544	NP_006535	O00471	EXOC5_HUMAN	Homo sapiens exocyst complex component 5 (EXOC5), mRNA.	123					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CCCGTTGTCTGGGTGTGTTTA	0.398000														95			6		0.000157383	0.00224144	0.000157383	1	0
ARL6IP1	23204	broad.mit.edu	37	16	18806848	18806848	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:18806848G>A	uc002dfl.1	-	3	415	c.346C>T	c.(346-348)Cga>Tga	p.R116*	ARL6IP1_uc010van.1_Nonsense_Mutation_p.R87*|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 interacting protein 1 (ARL6IP1), mRNA.	116						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GCTCTGCGTCGAGTTTTTACT	0.363000														44			30		0	0	0.000279167	0	0
RANBP17	64901	broad.mit.edu	37	5	170648799	170648799	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:170648799G>A	uc003mba.3	+	21	2519	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R	RANBP17_uc003mbb.3_Missense_Mutation_p.G118R|RANBP17_uc003mbd.3_Missense_Mutation_p.G156R|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	793					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCTCCTAATGGAATTCTTCT	0.328000			T	TRD@	ALL									52			33		0	0	0.000228196	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140865557	140865557	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:140865557C>T	uc003lky.2	+	0	817	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.P273S	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	273	Cadherin 3.				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)			GGACCTGGGTCCCAGTGGTAA	0.537000														51			34		0	0	0.000409698	0	0
TAF13	6884	broad.mit.edu	37	1	109607239	109607240	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:109607239_109607240GG>TT	uc001dwm.1	-	3	335_336	c.280_281CC>AA	c.(280-282)cca>AAa	p.P94K		NM_005645	NP_005636	Q15543	TAF13_HUMAN	Homo sapiens TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa (TAF13), mRNA.	94					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAACTTCCTTGGGTCCTTTCGA	0.361000														582			11		0	0	6.4e-05	0	0
ATP10A	57194	broad.mit.edu	37	15	25924935	25924935	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:25924935G>A	uc010ayu.3	-	20	4159	c.4053C>T	c.(4051-4053)tcC>tcT	p.S1351S		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1351					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAGAAGGCTGGGACAGGGGCA	0.637000														44			22		0	0	0.000375601	0	0
NBEAL1	65065	broad.mit.edu	37	2	203964360	203964361	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:203964360_203964361GG>TT	uc002uzt.3	+	10	1440_1441	c.1107_1108GG>TT	c.(1105-1110)caggga>caTTga	p.369_370QG>H*		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	369							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGTTTCAGGGACAATTGGA	0.391000														398			10		0	0	6.4e-05	0	0
CYFIP2	26999	broad.mit.edu	37	5	156747690	156747690	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:156747690C>T	uc021ygm.1	+	14	1686	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	CYFIP2_uc011ddn.2_Silent_p.I491I|CYFIP2_uc011ddo.2_Silent_p.I321I|CYFIP2_uc021ygn.1_Silent_p.I516I|CYFIP2_uc021ygo.1_Silent_p.I516I|CYFIP2_uc003lwt.3_Silent_p.I395I|CYFIP2_uc011ddp.2_Silent_p.I251I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	517					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAAGACCATCTGTGACTGGG	0.532000														233			198		0	0	0.000781405	0	0
SELE	6401	broad.mit.edu	37	1	169698386	169698386	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:169698386G>A	uc001ggm.4	-	6	1188	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	344	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACCTGGGCTGGTCCCTGCAA	0.488000														41			16		0	0	0.000566183	0	0
SMAD6	4091	broad.mit.edu	37	15	67073543	67073543	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:67073543C>T	uc002aqf.3	+	3	2084	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Silent_p.I126I	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	387	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GCAGCAAGATCGGCTTCGGCA	0.672000														16			12		0	0	0.000151284	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998636	8998636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:8998636G>A	uc022arp.1	-	0	526	c.526C>T	c.(526-528)Cct>Tct	p.P176S	PPP1R3B_uc003wsn.4_Missense_Mutation_p.P176S|PPP1R3B_uc003wso.4_Missense_Mutation_p.P176S	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	176	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)		TACTGACAAGGAAAGTCTGTG	0.483000														81			77		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179582773	179582773	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:179582773G>A	uc021vsy.1	-	82	21453	c.21228C>T	c.(21226-21228)tcC>tcT	p.S7076S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S3737S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8003	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTACTAAGGAAGCAACGT	0.408000														28			11		0	0	6.40141e-05	0	0
CSDE1	7812	broad.mit.edu	37	1	115282468	115282469	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:115282468_115282469CC>AA	uc001efi.3	-	3	703_704	c.181_182GG>TT	c.(181-183)ggg>TTg	p.G61L	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.G15L|CSDE1_uc001efm.3_Missense_Mutation_p.G61L|CSDE1_uc009wgv.3_Missense_Mutation_p.G15L|CSDE1_uc001efl.3_Missense_Mutation_p.G15L|CSDE1_uc001efn.3_Missense_Mutation_p.G15L	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	15	CSD 1.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAGGGTACCCATTATGTCCA	0.361000														455			11		0	0	6.4e-05	0	0
CASC3	22794	broad.mit.edu	37	17	38319996	38319997	+	Missense_Mutation	DNP	CG	AT	AT	rs144021374		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:38319996_38319997CG>AT	uc010cwt.1	+	6	1343_1344	c.1048_1049CG>AT	c.(1048-1050)cgg>ATg	p.R350M	CASC3_uc010cws.1_Missense_Mutation_p.R350M|CASC3_uc002hue.3_Missense_Mutation_p.R350M	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	350					RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GATTAGTTACCGGTCACGGCGC	0.569000														240			7		0	0	6.4e-05	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215081	140215081	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:140215081G>A	uc003lhq.2	+	0	1113	c.1113G>A	c.(1111-1113)ttG>ttA	p.L371L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.L371L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	386					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCACATTGATTAGCGTGT	0.502000														78			64		0	0	0.000781405	0	0
CUL1	8454	broad.mit.edu	37	7	148486870	148486871	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:148486870_148486871CG>AT	uc010lpg.3	+	14	2152_2153	c.1626_1627CG>AT	c.(1624-1629)tccggg>tcATgg	p.G543W	CUL1_uc003wey.3_Missense_Mutation_p.G543W|CUL1_uc003wez.3_Missense_Mutation_p.G433W|CUL1_uc003wfa.3_Missense_Mutation_p.G204W	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	543					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGCTGAGCTCCGGGTCCTGGCC	0.480000														153			6		0	0	6.4e-05	0	0
BTNL8	79908	broad.mit.edu	37	5	180375354	180375355	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:180375354_180375355GG>TT	uc003mmp.3	+	5	1022	c.788_splice	c.e5-1	p.W263_splice	BTNL8_uc003mmq.3_Splice_Site_p.K306_splice|BTNL8_uc010jll.3_Intron|BTNL8_uc011dhg.2_Splice_Site_p.W138_splice|BTNL8_uc010jlm.3_Splice_Site_p.W147_splice|BTNL8_uc011dhh.2_Splice_Site_p.W79_splice	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	263						integral to membrane		p.?(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTTTCAGGGAAAATCCAG	0.545000														333			10		0	0	6.4e-05	0	0
ADAR	103	broad.mit.edu	37	1	154557721	154557721	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:154557721G>A	uc001ffh.3	-	13	3657	c.3415C>T	c.(3415-3417)Ctg>Ttg	p.L1139L	ADAR_uc021pag.1_Silent_p.L844L|ADAR_uc001ffj.3_Silent_p.L1094L|ADAR_uc001ffi.3_Silent_p.L1113L|ADAR_uc001ffk.3_Silent_p.L844L	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	1139	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTACCGTCCAGGATCTCCAGG	0.542000														63			51		0	0	0.000781405	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38184340	38184340	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:38184340C>A	uc003xli.3	-	6	2134	c.1616G>T	c.(1615-1617)gGg>gTg	p.G539V	WHSC1L1_uc011lbm.2_Missense_Mutation_p.G539V|WHSC1L1_uc010lwe.3_Missense_Mutation_p.G539V|WHSC1L1_uc003xlj.3_Missense_Mutation_p.G539V	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	539					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTGTCTTGCCCCCTGACACT	0.403000			T	NUP98	AML									46			37		3.76114e-14	5.42995e-13	0.000814825	1	0
COL7A1	1294	broad.mit.edu	37	3	48629347	48629347	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:48629347T>A	uc003ctz.2	-	9	1342	c.1341A>T	c.(1339-1341)gaA>gaT	p.E447D		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	447	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACGCCGCCATTCCAACCGGT	0.627000														43			63		0	0	0.000781405	0	0
GPR123	84435	broad.mit.edu	37	10	134896165	134896165	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:134896165C>T	uc001llw.3	+	5	1251	c.1251C>T	c.(1249-1251)ggC>ggT	p.G417G				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGACCCACGGCCTTGGCCTGA	0.607000														17			8		0	0	0.000157383	0	0
LAMB3	3914	broad.mit.edu	37	1	209796360	209796360	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:209796360G>A	uc001hhg.3	-	15	2913	c.2523C>T	c.(2521-2523)ggC>ggT	p.G841G	LAMB3_uc009xco.3_Silent_p.G841G|LAMB3_uc001hhh.3_Silent_p.G841G|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	841	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGCATTGAAGCCCCGCAGCT	0.667000														60			55		0	0	0.000781405	0	0
OR4K2	390431	broad.mit.edu	37	14	20344762	20344762	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:20344762C>T	uc001vwh.1	+	0	336	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACTGAGATCATCTTACTCA	0.438000														198			47		0	0	0.000781405	0	0
TRPC6	7225	broad.mit.edu	37	11	101375406	101375406	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:101375406C>T	uc001pgk.4	-	1	719	c.294G>A	c.(292-294)gaG>gaA	p.E98E	TRPC6_uc009ywy.3_Silent_p.E98E|TRPC6_uc009ywz.1_Silent_p.E98E	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	98					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGCGTTCCTCCTCTATAGATA	0.483000														39			28		0	0	0.000720815	0	0
E2F3	1871	broad.mit.edu	37	6	20486996	20486997	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:20486996_20486997CC>AA	uc003nda.2	+	4	1288_1289	c.961_962CC>AA	c.(961-963)cct>AAt	p.P321N	E2F3_uc021ymj.1_Missense_Mutation_p.P190N	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	321	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TGTGAAAGCCCCTCCAGAAACA	0.391000														616			13		0	0	6.4e-05	0	0
SPRY3	10251	broad.mit.edu	37	X	155004374	155004374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:155004374C>T	uc022cio.1	+	0	841	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	SPRY3_uc004fnq.1_Missense_Mutation_p.P281S	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	281					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCACCCTTCCCCAAGGCCCA	0.547000														54			32		0	0	0.000339439	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691202	18691202	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:18691202A>T	uc001rdt.3	+	23	3429	c.3313A>T	c.(3313-3315)Att>Ttt	p.I1105F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.I1146F|PIK3C2G_uc010sic.2_Missense_Mutation_p.I924F	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1105	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGCTTATAATATTATCAGAAA	0.363000														12			7		0	0	8.12818e-05	0	0
ABCC9	10060	broad.mit.edu	37	12	22046965	22046965	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:22046965C>T	uc001rfh.3	-	12	1822	c.1802_splice	c.e12+1	p.S601_splice	ABCC9_uc001rfi.1_Splice_Site_p.S601_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	601					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCAGTGCATACCTTATGATGG	0.398000														12			12		0	0	0.00010058	0	0
EPHA7	2045	broad.mit.edu	37	6	93956640	93956640	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:93956640G>A	uc003poe.3	-	14	2837	c.2596C>T	c.(2596-2598)Cac>Tac	p.H866Y	EPHA7_uc003pof.3_Missense_Mutation_p.H861Y|EPHA7_uc011eac.2_Missense_Mutation_p.H862Y	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	866	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTAGCTGGTGAAGGCCAGCT	0.393000														29			18		0	0	0.000958276	0	0
MYH1	4619	broad.mit.edu	37	17	10399767	10399767	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:10399767C>T	uc002gmo.3	-	33	4850	c.4756G>A	c.(4756-4758)Gaa>Aaa	p.E1586K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1586						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTCAATTTCCTCATCTTTT	0.453000														13			61		0	0	0.000781405	0	0
CCNT1	904	broad.mit.edu	37	12	49087100	49087100	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:49087100G>A	uc001rsd.4	-	8	2220	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	CCNT1_uc009zkz.2_Missense_Mutation_p.R348C|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	633					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	p.R633C(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGAGGGACACGAGTTTTACAG	0.488000														31			21		0	0	0.000175454	0	0
FGD5	152273	broad.mit.edu	37	3	14861656	14861656	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:14861656G>A	uc003bzc.3	+	0	1188	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	FGD5_uc011avk.2_Missense_Mutation_p.E360K	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	360					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TTTTTGCAGCGAGAGCTGTTC	0.527000														33			25		0	0	0.000878237	0	0
SERPINE2	5270	broad.mit.edu	37	2	224856569	224856569	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:224856569C>T	uc010zlr.1	-	3	809	c.672G>A	c.(670-672)ggG>ggA	p.G224G	SERPINE2_uc002vnu.2_Silent_p.G212G|SERPINE2_uc002vnv.2_Silent_p.G212G	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	212					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GATAGGATTTCCCGTCGGCTG	0.547000														29			13		0	0	0.000219431	0	0
NPY2R	4887	broad.mit.edu	37	4	156135508	156135508	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:156135508C>T	uc003ioq.3	+	1	906	c.417C>T	c.(415-417)atC>atT	p.I139I	NPY2R_uc003ior.3_Silent_p.I139I|NPY2R_uc021xtm.1_Silent_p.I139I	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	139					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TATCCACAATCACCTTGACAG	0.527000														21			14		0	0	0.000308642	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331823	100331823	+	RNA	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:100331823G>A	uc021sxl.1	-	1		c.1330C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		CAACCCAGAGGACCTGGAGAG	0.607000														28			15		0	0	0.000422831	0	0
MYO7B	4648	broad.mit.edu	37	2	128345966	128345966	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:128345966G>A	uc002top.3	+	15	1744	c.1691_splice	c.e15-1	p.G564_splice		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	564	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGTCTCCACAGGCTTCCTGGA	0.542000														20			9		0	0	0.000673444	0	0
ATG10	83734	broad.mit.edu	37	5	81549195	81549195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:81549195C>T	uc003khs.3	+	7	1043	c.614C>T	c.(613-615)cCt>cTt	p.P205L	ATG10_uc003khr.3_Missense_Mutation_p.P205L|ATG10_uc010jas.3_Missense_Mutation_p.P169L	NM_001131028	NP_113670	Q9H0Y0	ATG10_HUMAN	Homo sapiens ATG10 autophagy related 10 homolog (S. cerevisiae) (ATG10), transcript variant 3, mRNA.	205					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CTGAATCTACCTCTGAGTTAT	0.413000														67			48		0	0	0.000781405	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054239	95054239	+	Silent	SNP	G	A	A	rs146244413		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:95054239G>A	uc001ydm.2	+	2	750	c.540G>A	c.(538-540)acG>acA	p.T180T	SERPINA5_uc010ave.2_Silent_p.T180T|SERPINA5_uc001ydn.1_Silent_p.T180T	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	180					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.T180T(4)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAAAGCAAACGAAGGGCAAGA	0.483000														62			48		0	0	0.000781405	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														22			5		0	0	0.000602214	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891833	18891833	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:18891833G>A	uc001rdy.3	+	0	789	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	211					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGACCTGAAAGAAAGCTTGGA	0.398000														15			15		0	0	0.000422831	0	0
MYBPH	4608	broad.mit.edu	37	1	203140242	203140242	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:203140242C>T	uc001gzh.1	-	5	939	c.880G>A	c.(880-882)Ggc>Agc	p.G294S		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	294	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCTGTGTTGCCTGTGTCCTGG	0.607000														48			22		0	0	0.000586117	0	0
COL5A1	1289	broad.mit.edu	37	9	137622286	137622286	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:137622286C>T	uc004cfe.3	+	6	1511	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	377	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGCCGAAATTCCCACCAGCAC	0.617000														9			29		0	0	0.000279167	0	0
KHNYN	23351	broad.mit.edu	37	14	24901147	24901147	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:24901147C>T	uc010tpc.2	+	2	819	c.803C>T	c.(802-804)cCc>cTc	p.P268L	KHNYN_uc001wph.4_Missense_Mutation_p.P227L|KHNYN_uc010alw.3_Missense_Mutation_p.P227L|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	227										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GTGAGAGCTCCCCCTAGTGAC	0.642000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			47		0	0	0.000781405	0	0
LRP1	4035	broad.mit.edu	37	12	57579463	57579463	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:57579463G>A	uc001snd.3	+	40	7079	c.6613G>A	c.(6613-6615)Gag>Aag	p.E2205K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2205					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTCTACTCAGAGCGCACCAT	0.637000														10			8		0	0	0.000673444	0	0
HFM1	164045	broad.mit.edu	37	1	91843681	91843681	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:91843681C>T	uc001doa.4	-	10	1395	c.1296G>A	c.(1294-1296)atG>atA	p.M432I	HFM1_uc010osu.2_Missense_Mutation_p.M111I|HFM1_uc010osv.1_Missense_Mutation_p.M116I|HFM1_uc001doc.1_Missense_Mutation_p.M432I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	432	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTACAGTTTTCATTCTGCTAA	0.348000														10			12		0	0	0.000151284	0	0
NUAK1	9891	broad.mit.edu	37	12	106460902	106460902	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:106460902C>G	uc001tlj.1	-	6	3044	c.1664G>C	c.(1663-1665)gGt>gCt	p.G555A		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	555							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGCAGGGACACCAGGCTCTGA	0.587000														28			23		0	0	0.000229342	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518266	41518266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:41518266G>A	uc002opr.1	+	6	1035	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.R143Q	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	343					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CTTCATGACCGAGCCAAAATG	0.483000														28			22		0	0	0.000375601	0	0
UNC93A	54346	broad.mit.edu	37	6	167711438	167711438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:167711438C>T	uc003qvq.3	+	3	680	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	UNC93A_uc003qvr.3_Intron	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	169						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CATAGAGACCCTTCCAGAAGA	0.532000														47			33		0	0	0.000692331	0	0
ANO1	55107	broad.mit.edu	37	11	69995855	69995855	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:69995855G>A	uc001opj.3	+	11	1603	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.R405Q|ANO1_uc010rqk.2_Missense_Mutation_p.R168Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	433					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	p.R433Q(1)|p.R433*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAACAGATGCGACTCAACTAC	0.537000														12			10		0	0	0.00010058	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42860032	42860032	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:42860032A>G	uc010skv.2	-	5	1026	c.739T>C	c.(739-741)Tat>Cat	p.Y247H	PRICKLE1_uc001rnl.3_Missense_Mutation_p.Y247H|PRICKLE1_uc010skw.2_Missense_Mutation_p.Y247H|PRICKLE1_uc001rnm.3_Missense_Mutation_p.Y247H	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	247	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TACTCCGCATAGAGAGACTCA	0.522000														45			31		0	0	0.000491102	0	0
DUSP22	56940	broad.mit.edu	37	6	348142	348143	+	Missense_Mutation	DNP	AT	GC	GC			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:348142_348143AT>GC	uc003msx.3	+	5	742_743	c.303_304AT>GC	c.(301-306)gcatac>gcGCac	p.Y102H	DUSP22_uc011dhn.1_Missense_Mutation_p.Y102H|DUSP22_uc003msy.1_Missense_Mutation_p.Y59H	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	102	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y102Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGGTGATCGCATACATCATGAC	0.609000														199			36		0	0	6.4e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769605	140769605	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:140769605C>T	uc003lkc.2	+	0	2154	c.2154C>T	c.(2152-2154)agC>agT	p.S718S	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	738					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)			GCTCCTCCAGCCCCGCCTCCT	0.572000														123			72		0	0	0.000781405	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040330	247040330	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:247040330G>A	uc001ibv.2	-	22	2983	c.2886C>T	c.(2884-2886)ttC>ttT	p.F962F	AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	953	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCACTAAAAGGAATTCATGAT	0.348000														24			30		0	0	0.000227799	0	0
CELSR1	9620	broad.mit.edu	37	22	46760441	46760441	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:46760441A>G	uc003bhw.1	-	32	8747	c.8747T>C	c.(8746-8748)cTt>cCt	p.L2916P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2916					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTGCTAGCAAGCCTGGCTGC	0.682000														43			12		0	0	0.000151284	0	0
FRY	10129	broad.mit.edu	37	13	32745229	32745229	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:32745229G>A	uc001utx.3	+	17	2469	c.1973G>A	c.(1972-1974)tGg>tAg	p.W658*	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTCTCAGATTGGAGGGAAGAT	0.418000														65			37		0	0	0.000814825	0	0
ICA1L	130026	broad.mit.edu	37	2	203684471	203684472	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:203684471_203684472GG>TT	uc002uzh.1	-	5	674_675	c.510_511CC>AA	c.(508-513)tcccaa>tcAAaa	p.Q171K	ICA1L_uc002uzi.1_Missense_Mutation_p.Q171K|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Missense_Mutation_p.Q171K	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	171	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAGCTCTTGGGATACATCTT	0.416000														524			14		0	0	6.4e-05	0	0
OR4E2	26686	broad.mit.edu	37	14	22133916	22133916	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:22133916C>T	uc010tmd.2	+	0	620	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGAACCATCTCCCTCTCCTGT	0.493000														36			17		0	0	0.000566183	0	0
ADH1B	125	broad.mit.edu	37	4	100235017	100235017	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:100235017C>T	uc003hus.4	-	5	873	c.789G>A	c.(787-789)gtG>gtA	p.V263V	ADH1B_uc003hut.4_Silent_p.V223V|ADH1B_uc011ceh.2_Silent_p.V108V|ADH1B_uc011cei.1_Silent_p.V223V	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	263					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.V263L(1)|p.G262C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACGAAAAATCCACACCTCCAT	0.468000														104			72		0	0	0.000781405	0	0
PTPRD	5789	broad.mit.edu	37	9	8500893	8500893	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:8500893C>A	uc003zkk.3	-	23	2732	c.1989G>T	c.(1987-1989)ttG>ttT	p.L663F	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	663	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGGAATTCCCAAAATCTCGT	0.483000										TSP Lung(15;0.13)				181			10		7.93312e-07	1.13751e-05	0.000219431	1	0
CCDC141	285025	broad.mit.edu	37	2	179742823	179742823	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:179742823G>A	uc002une.2	-	11	1885	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	CCDC141_uc002ung.3_Silent_p.I589I|CCDC141_uc002unf.1_Silent_p.I68I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	14							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTTCTGAGGGATTTCGGTTT	0.348000														22			15		0	0	0.000422831	0	0
ITPR3	3710	broad.mit.edu	37	6	33652562	33652562	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:33652562G>A	uc021ywr.1	+	38	5373	c.5149G>A	c.(5149-5151)Gac>Aac	p.D1717N		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1717					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCTGGACCCAGACTGGTCGGC	0.627000														111			41		0	0	0.000589545	0	0
CACNA1S	779	broad.mit.edu	37	1	201063042	201063042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:201063042C>T	uc001gvv.3	-	2	593	c.366G>A	c.(364-366)tgG>tgA	p.W122*		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	122					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGCACATTCCAGCCACTGC	0.547000														33			26		0	0	0.000184323	0	0
C7orf29	113763	broad.mit.edu	37	7	150027560	150027560	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:150027560C>T	uc003wgy.3	+	0	623	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	23										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCTGCGCTACCTGCACATCTT	0.647000														28			64		0	0	0.000781405	0	0
A2M	2	broad.mit.edu	37	12	9231867	9231867	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:9231867C>T	uc001qvk.1	-	24	3205	c.3092G>A	c.(3091-3093)cGa>cAa	p.R1031Q	A2M_uc009zgk.1_Missense_Mutation_p.R881Q	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1031					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTGCCATATCGCTCCCCAAA	0.413000														33			26		0	0	0.000147802	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126877	19126877	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:19126877G>T	uc002dfu.4	+	0	1624	c.1094G>T	c.(1093-1095)cGg>cTg	p.R365L	ITPRIPL2_uc002dft.3_Missense_Mutation_p.R61L	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	365						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTGCAGGAACGGGCAGCTCCA	0.672000														76			5		0.000602214	0.00853056	0.000602214	1	0
OR14A16	284532	broad.mit.edu	37	1	247978618	247978618	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:247978618G>A	uc001idm.1	-	0	414	c.414C>T	c.(412-414)acC>acT	p.T138T		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T138T(2)|p.S137R(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTTGGACACAGGTGCTCCTGT	0.527000														48			37		0	0	0.00058488	0	0
DMRT1	1761	broad.mit.edu	37	9	916815	916815	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:916815C>T	uc003zgv.3	+	3	1024	c.875C>T	c.(874-876)tCt>tTt	p.S292F		NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	292					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGGATGCATTCTTACTACCCG	0.502000														18			46		0	0	0.000781405	0	0
SPTA1	6708	broad.mit.edu	37	1	158654952	158654952	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:158654952C>T	uc001fst.1	-	1	409	c.210G>A	c.(208-210)atG>atA	p.M70I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	70					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.I69I(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)					TGACTTTCTCCATGATCCACT	0.453000														6			9		0	0	0.000274275	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:52034594C>T	uc002pwy.3	-	1	455	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E83K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.E47K|SIGLEC6_uc010ydc.2_Missense_Mutation_p.E83K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.E83K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.E83K|SIGLEC6_uc010epa.2_Missense_Mutation_p.E72K|SIGLEC6_uc010epb.2_Missense_Mutation_p.E36K	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	83	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACTTCTTCGTCTGGGTCG	0.582000														37			23		0	0	0.000229342	0	0
DMGDH	29958	broad.mit.edu	37	5	78338222	78338222	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:78338222C>T	uc003kfs.3	-	6	1083	c.1077G>A	c.(1075-1077)ttG>ttA	p.L359L	DMGDH_uc011cte.1_Silent_p.L209L|DMGDH_uc011ctf.1_Silent_p.L158L|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	359					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CAGCCTTTTTCAAGACAGGAA	0.448000														38			24		0	0	0.000878237	0	0
ABHD5	51099	broad.mit.edu	37	3	43744072	43744073	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:43744072_43744073CC>AA	uc003cmx.3	+	2	609_610	c.499_500CC>AA	c.(499-501)cca>AAa	p.P167K		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	167					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GCTGAAGTACCCATCAAGGTAA	0.475000														182			7		0	0	6.4e-05	0	0
ANKS1B	56899	broad.mit.edu	37	12	99222980	99222980	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:99222980C>T	uc001tge.2	-	18	3455	c.3038G>A	c.(3037-3039)cGa>cAa	p.R1013Q	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc001tgk.3_Missense_Mutation_p.R310Q|ANKS1B_uc010svd.2_Missense_Mutation_p.R19Q|ANKS1B_uc001tgd.2_Intron|ANKS1B_uc009ztp.3_Missense_Mutation_p.R19Q|ANKS1B_uc010svf.2_Missense_Mutation_p.R19Q|ANKS1B_uc010sve.2_Missense_Mutation_p.R19Q|ANKS1B_uc001tgh.4_Missense_Mutation_p.R19Q|ANKS1B_uc009ztr.3_Intron|ANKS1B_uc001tgj.3_Intron|ANKS1B_uc001tgi.3_Missense_Mutation_p.R239Q|ANKS1B_uc009zts.2_Missense_Mutation_p.R239Q|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Intron	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	1013						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.R1013R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGTTTTGATCGGGGAATATC	0.428000														123			106		0	0	0.000781405	0	0
XKR4	114786	broad.mit.edu	37	8	56436522	56436522	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:56436522C>T	uc003xsf.3	+	2	1721	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	563						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATCAGAAATTCGCAGAGCGGG	0.567000														15			25		0	0	0.00047179	0	0
ESR2	2100	broad.mit.edu	37	14	64723949	64723949	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:64723949C>T	uc001xha.1	-	5	1554	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	ESR2_uc001xgy.2_Silent_p.L362L|ESR2_uc001xgu.3_Silent_p.L362L|ESR2_uc001xgv.3_Silent_p.L362L|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Silent_p.L362L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Intron|ESR2_uc001xgz.2_Silent_p.L362L|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	362	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CTCACCTGTCCAGAACAAGAT	0.468000														48			41		0	0	0.000589545	0	0
MMP3	4314	broad.mit.edu	37	11	102710938	102710938	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:102710938G>A	uc001phj.1	-	5	901	c.836C>T	c.(835-837)cCt>cTt	p.P279L		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	279					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TGGAGGGACAGGTTCCGTGGG	0.517000														22			15		0	0	0.000566183	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68252626	68252627	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:68252626_68252627GG>TT	uc001xka.2	-	17	3391_3392	c.3252_3253CC>AA	c.(3250-3255)tcccag>tcAAag	p.Q1085K	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.Q1085K	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1085					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTAGCTGCTGGGAGAGGGTGG	0.559000														226			12		0	0	6.4e-05	0	0
GPR98	84059	broad.mit.edu	37	5	89931004	89931004	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:89931004A>G	uc003kju.3	+	9	2009	c.1913A>G	c.(1912-1914)aAt>aGt	p.N638S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	638					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAATCTGCAATATTTCTTTA	0.358000														19			20		0	0	0.000132079	0	0
TAB1	10454	broad.mit.edu	37	22	39772070	39772070	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:39772070C>T	uc003axr.3	+	1	1911	c.129C>T	c.(127-129)ttC>ttT	p.F43F	TAB1_uc003axo.4_Silent_p.F117F|TAB1_uc003axq.4_Silent_p.F117F|TAB1_uc003axs.4_Silent_p.F118F	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCTGGGCTTTCCTCTGGTTCG	0.632000														62			68		0	0	0.000781405	0	0
FAM194A	131831	broad.mit.edu	37	3	150403561	150403561	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:150403561C>T	uc003eyg.3	-	5	808	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	FAM194A_uc003eyh.3_Missense_Mutation_p.E105K	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	251										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAGCTCTCTTCTTTGTATGCC	0.338000														30			26		0	0	0.000184323	0	0
NBEAL1	65065	broad.mit.edu	37	2	203972603	203972604	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:203972603_203972604GG>TT	uc002uzt.3	+	12	1887_1888	c.1554_1555GG>TT	c.(1552-1557)ttgggg>ttTTgg	p.518_519LG>FW		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	518							binding	p.R519S(1)|p.R519H(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATGGTTCCTTGGGGAGTCAGTC	0.460000														419			13		0	0	6.4e-05	0	0
ABCA7	10347	broad.mit.edu	37	19	1051465	1051465	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:1051465C>T	uc002lqw.4	+	20	3073	c.2842C>T	c.(2842-2844)Ctg>Ttg	p.L948L	ABCA7_uc010dsb.1_Silent_p.L810L	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	948	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCAACGGAAGCTGTCCGTGGC	0.617000														26			18		0	0	0.00074312	0	0
MED12L	116931	broad.mit.edu	37	3	150908650	150908650	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:150908650C>T	uc003eyp.3	+	12	2029	c.1900C>T	c.(1900-1902)Cgg>Tgg	p.R634W	MED12L_uc011bnz.2_Missense_Mutation_p.R494W|MED12L_uc003eyn.3_Missense_Mutation_p.R634W|MED12L_uc003eyo.3_Missense_Mutation_p.R634W	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	634					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCTCAACTCGGCCGCGGTC	0.517000														42			18		0	0	0.000958276	0	0
MUC17	140453	broad.mit.edu	37	7	100682579	100682579	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:100682579C>T	uc003uxp.1	+	2	7935	c.7882C>T	c.(7882-7884)Cct>Tct	p.P2628S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2628	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AATCTCAACTCCTAGTGAAGT	0.453000														130			29		0	0	0.000147802	0	0
ZNF236	7776	broad.mit.edu	37	18	74580662	74580663	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:74580662_74580663GG>TT	uc002lmi.3	+	3	577_578	c.379_380GG>TT	c.(379-381)ggg>TTg	p.G127L	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.G127L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	127					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTGAGTGTGGGGATGAGTTT	0.525000														269			9		0	0	6.4e-05	0	0
TRUB2	26995	broad.mit.edu	37	9	131071999	131071999	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:131071999G>A	uc004buq.1	-	7	836	c.826C>T	c.(826-828)Cta>Tta	p.L276L		NM_015679	NP_056494	O95900	TRUB2_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 2 (E. coli) (TRUB2), mRNA.	276					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ATGTTGGTTAGGTCCCACTGG	0.627000														5			17		0	0	0.000958276	0	0
MYO18B	84700	broad.mit.edu	37	22	26422418	26422418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:26422418G>A	uc003abz.1	+	42	6728	c.6478G>A	c.(6478-6480)Gaa>Aaa	p.E2160K	MYO18B_uc003aca.1_Missense_Mutation_p.E2041K|MYO18B_uc010guy.1_Missense_Mutation_p.E2042K|MYO18B_uc010guz.1_Missense_Mutation_p.E2040K|MYO18B_uc011aka.1_Missense_Mutation_p.E1314K|MYO18B_uc011akb.1_Missense_Mutation_p.E1673K|MYO18B_uc010gva.1_Missense_Mutation_p.E143K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2160						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGATAAACGAAGAGGCTGG	0.502000														90			78		0	0	0.000781405	0	0
FBXO41	150726	broad.mit.edu	37	2	73493768	73493768	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:73493768C>T	uc021vjh.1	-	1	1038	c.948G>A	c.(946-948)gcG>gcA	p.A316A		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	316						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TGGCCTCCCGCGCCGCCGTCT	0.667000														45			26		0	0	0.00058488	0	0
ZNF474	133923	broad.mit.edu	37	5	121488712	121488712	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:121488712G>A	uc003ksv.3	+	1	1403	c.1027G>A	c.(1027-1029)Gta>Ata	p.V343I	ZNF474_uc021ycy.1_Missense_Mutation_p.V343I	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	343						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGCACCCAGTGTAACTGATAA	0.458000														30			16		0	0	0.000422831	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413833	26413833	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:26413833C>T	uc003nhv.3	+	9	1823	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	BTN3A1_uc011dkj.2_3'UTR|BTN3A1_uc010jqj.3_3'UTR|BTN3A1_uc011dkk.2_Silent_p.F433F	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	485	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTCATACTTTCCTGGACGTCT	0.463000														149			45		0	0	0.000781405	0	0
NCOA6	23054	broad.mit.edu	37	20	33364129	33364129	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:33364129G>A	uc002xav.3	-	4	2929	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	NCOA6_uc002xaw.3_Missense_Mutation_p.R120W|NCOA6_uc021wcd.1_Missense_Mutation_p.R120W|NCOA6_uc021wce.1_Missense_Mutation_p.R120W|NCOA6_uc021wcf.1_Missense_Mutation_p.R120W|NCOA6_uc010gew.1_Missense_Mutation_p.R120W	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	120	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTAAATCCCGAAGCTGCTGG	0.498000														47			18		0	0	0.000132079	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215339	140215339	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:140215339G>A	uc003lhq.2	+	0	1371	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.Q457Q	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	471	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCGCGCAGCCCGAGTATA	0.672000														52			32		0	0	0.000953801	0	0
FLT4	2324	broad.mit.edu	37	5	180056356	180056356	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:180056356G>A	uc003mlz.4	-	6	967	c.888C>T	c.(886-888)acC>acT	p.T296T	FLT4_uc003mma.4_Silent_p.T296T|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Silent_p.T296T|FLT4_uc011dgz.1_Intron	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	296	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTGTGGATGGTCAGGATGC	0.627000														26			24		0	0	0.000878237	0	0
PTPRD	5789	broad.mit.edu	37	9	8500886	8500886	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:8500886G>A	uc003zkk.3	-	23	2739	c.1996C>T	c.(1996-1998)Cct>Tct	p.P666S	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	666	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGTCCGAAGGAATTCCCAAA	0.478000										TSP Lung(15;0.13)				139			53		0	0	0.000781405	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11105025	11105026	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:11105025_11105026GG>TT	uc003mzt.3	-	1	1000_1001	c.518_519CC>AA	c.(517-519)ccc>cAA	p.P173Q	C6orf228_uc011dio.2_Intron|ERVFRD-1_uc021ylp.1_Missense_Mutation_p.P173Q	NM_207582	NP_997465	P60508	EFRD1_HUMAN	Homo sapiens endogenous retrovirus group FRD, member 1 (ERVFRD-1), mRNA.	173						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TTGGAGGTTTGGGGAATCTTGG	0.441000														493			11		0	0	6.4e-05	0	0
AKNAD1	254268	broad.mit.edu	37	1	109385790	109385790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:109385790C>T	uc001dwa.3	-	5	1614	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	AKNAD1_uc010ovb.2_Missense_Mutation_p.E156K|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	449								p.E449K(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATTGTTGATTCGTGCTTGTGG	0.488000														43			60		0	0	0.000781405	0	0
HTN3	3347	broad.mit.edu	37	4	70898915	70898915	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:70898915C>T	uc003hew.2	+	4	251	c.134C>T	c.(133-135)tCa>tTa	p.S45L		NM_000200	NP_000191	P15516	HIS3_HUMAN	Homo sapiens histatin 3 (HTN3), mRNA.	45					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						GGCTATAGATCAAATTATCTG	0.373000														15			5		0	0	0.000602214	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904447	73904447	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:73904447C>T	uc011dyh.2	+	14	2513	c.2166C>T	c.(2164-2166)taC>taT	p.Y722Y	KCNQ5_uc011dyi.2_Silent_p.Y713Y|KCNQ5_uc010kat.3_Silent_p.Y694Y|KCNQ5_uc003pgk.3_Silent_p.Y703Y|KCNQ5_uc011dyj.2_Silent_p.Y593Y|KCNQ5_uc011dyk.2_Silent_p.Y453Y	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	703					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S721S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AGACTTTCTACGCGCTTAGCC	0.493000														59			48		0	0	0.000781405	0	0
ATG16L2	89849	broad.mit.edu	37	11	72539930	72539931	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:72539930_72539931CG>AT	uc001otd.3	+	16	1713_1714	c.1673_1674CG>AT	c.(1672-1674)ccg>cAT	p.P558H	ATG16L2_uc001ote.3_Missense_Mutation_p.P452H|ATG16L2_uc009ytj.2_Intron	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	558					autophagy|protein transport	cytoplasm	protein binding	p.P558L(2)|p.S557I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CACTACAGCCCGGACAGAAGCT	0.599000														302			9		0	0	6.4e-05	0	0
OR4C12	283093	broad.mit.edu	37	11	50003384	50003384	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:50003384G>A	uc010ria.2	-	0	688	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATCTCAAGATGATCACATAGG	0.403000														7			12		0	0	6.40141e-05	0	0
DOCK3	1795	broad.mit.edu	37	3	51274960	51274960	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:51274960C>T	uc011bds.2	+	20	2064	c.2041C>T	c.(2041-2043)Cac>Tac	p.H681Y		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	681						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAGTATTTTCACTTTCGACC	0.468000														16			20		0	0	0.00047179	0	0
SHKBP1	92799	broad.mit.edu	37	19	41083314	41083314	+	Silent	SNP	A	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:41083314A>G	uc002oob.3	+	2	202	c.153A>G	c.(151-153)ggA>ggG	p.G51G	SHKBP1_uc002ooc.3_Silent_p.G51G|SHKBP1_uc010xvl.1_5'UTR|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	51	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCTGAGCGGACGCATCTCGA	0.627000														12			9		0	0	0.000673444	0	0
SAAL1	113174	broad.mit.edu	37	11	18110953	18110953	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:18110953G>A	uc001mnq.3	-	6	744	c.694C>T	c.(694-696)Caa>Taa	p.Q232*	SAAL1_uc001mnr.3_Nonsense_Mutation_p.Q232*	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.	232					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TCCTGGGGTTGGTCCAGAGGC	0.493000														25			22		0	0	0.000375601	0	0
MAPK4	5596	broad.mit.edu	37	18	48252484	48252484	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:48252484G>A	uc002lev.3	+	4	2006	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	MAPK4_uc010xdm.2_Missense_Mutation_p.D125N|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	336					cell cycle		ATP binding|MAP kinase activity	p.D336N(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGAGATCGACGACATCGTGCT	0.602000														30			19		0	0	0.000132079	0	0
DOK7	285489	broad.mit.edu	37	4	3465143	3465143	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:3465143G>A	uc003ghd.3	+	0	111	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	DOK7_uc003ghe.3_Missense_Mutation_p.R14Q	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	14	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTCAAGCTGCGGGACGGCAAG	0.766000														11			11		0	0	0.000219431	0	0
ZNF28	7576	broad.mit.edu	37	19	53304430	53304430	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:53304430G>A	uc002qad.3	-	3	825	c.668C>T	c.(667-669)tCc>tTc	p.S223F	ZNF28_uc002qac.3_Missense_Mutation_p.S169F|ZNF28_uc010eqe.3_Missense_Mutation_p.S169F|ZNF28_uc021uza.1_Missense_Mutation_p.S170F	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACAATTAAAGGATTTGCCACT	0.323000														54			46		0	0	0.000509022	0	0
CDCP2	200008	broad.mit.edu	37	1	54610221	54610221	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:54610221G>A	uc001cwv.1	-	1	1193	c.345C>T	c.(343-345)acC>acT	p.T115T		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	115	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCAGGAGGAGGTGAAGGGCG	0.602000														24			24		0	0	0.000295444	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600597	3600597	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:3600597G>A	uc002lyg.2	-	1	423	c.36C>T	c.(34-36)ttC>ttT	p.F12F	TBXA2R_uc021umv.1_Silent_p.F12F	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	12					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TTGTGGGCCGGAAACAGGGCC	0.672000														17			10		0	0	6.40141e-05	0	0
MLH1	4292	broad.mit.edu	37	3	37070385	37070385	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:37070385T>A	uc003cgl.3	+	12	1718	c.1520T>A	c.(1519-1521)tTg>tAg	p.L507*	MLH1_uc011aye.2_Nonsense_Mutation_p.L266*|MLH1_uc011ayb.2_Nonsense_Mutation_p.L266*|MLH1_uc010hge.3_Nonsense_Mutation_p.L507*|MLH1_uc011ayc.2_Nonsense_Mutation_p.L409*|MLH1_uc011ayd.2_Nonsense_Mutation_p.L266*|MLH1_uc003cgo.3_Nonsense_Mutation_p.L266*|MLH1_uc003cgn.4_Nonsense_Mutation_p.L266*|MLH1_uc010hgi.1_Nonsense_Mutation_p.L149*|MLH1_uc010hgj.1_Nonsense_Mutation_p.L149*|MLH1_uc010hgk.3_Nonsense_Mutation_p.L149*|MLH1_uc010hgl.1_Nonsense_Mutation_p.L82*|MLH1_uc010hgn.3_Nonsense_Mutation_p.L149*|MLH1_uc010hgm.3_Non-coding_Transcript|MLH1_uc010hgo.3_Nonsense_Mutation_p.L149*	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	507	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACTAGTGTTTTGAGTCTCCAG	0.488000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					145			81		0	0	0.000781405	0	0
FAIM3	9214	broad.mit.edu	37	1	207087397	207087397	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:207087397C>T	uc001hey.3	-	1	259	c.80G>A	c.(79-81)gGg>gAg	p.G27E	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Missense_Mutation_p.G27E|FAIM3_uc010psa.2_5'UTR	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	27					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GCCCAGCTCCCCCTCTACCTT	0.547000														47			42		0	0	0.000509022	0	0
CD200R1	131450	broad.mit.edu	37	3	112647760	112647760	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:112647760C>A	uc003dzj.1	-	4	905	c.672G>T	c.(670-672)aaG>aaT	p.K224N	CD200R1_uc003dzk.1_Missense_Mutation_p.K201N|CD200R1_uc011bhx.1_Missense_Mutation_p.K179N	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	201	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GGCATGTACTCTTAACAGTCA	0.527000														14			13		6.53275e-17	9.45724e-16	0.000219431	1	0
AGA	175	broad.mit.edu	37	4	178358577	178358577	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:178358577G>A	uc003iuu.2	-	4	732	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	AGA_uc010irt.2_5'Flank|AGA_uc003iuw.3_Missense_Mutation_p.R202C|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	202					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCATGACCACGATCATCTTCT	0.373000														24			26		0	0	0.000586117	0	0
CACNA1E	777	broad.mit.edu	37	1	181732607	181732607	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:181732607G>A	uc009wxt.3	+	33	4950	c.4755G>A	c.(4753-4755)aaG>aaA	p.K1585K	CACNA1E_uc001gow.3_Silent_p.K1585K|CACNA1E_uc009wxs.3_Silent_p.K1566K|CACNA1E_uc001gox.1_Silent_p.K811K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1585					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCCTCATAAAGCTCCTGCGTC	0.473000														25			24		0	0	0.00047179	0	0
MYLK	4638	broad.mit.edu	37	3	123376127	123376127	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:123376127C>T	uc003ego.3	-	23	4416	c.4134G>A	c.(4132-4134)tgG>tgA	p.W1378*	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Nonsense_Mutation_p.W178*|MYLK_uc011bjw.2_Nonsense_Mutation_p.W1378*|MYLK_uc003egp.3_Nonsense_Mutation_p.W1309*|MYLK_uc003egq.3_Nonsense_Mutation_p.W1378*|MYLK_uc003egr.3_Nonsense_Mutation_p.W1309*|MYLK_uc003egs.3_Nonsense_Mutation_p.W1202*	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1378	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTAGTTCCTTCCACGTCTTGT	0.537000														26			25		0	0	0.000586117	0	0
AGBL1	123624	broad.mit.edu	37	15	86807930	86807930	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:86807930G>A	uc002blz.1	+	9	1470	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	AGBL1_uc002bma.1_Missense_Mutation_p.D195N|AGBL1_uc002bmb.1_Missense_Mutation_p.D158N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	464					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCCTTTCCACGATCCCTATCT	0.473000														73			56		0	0	0.000781405	0	0
MORC1	27136	broad.mit.edu	37	3	108705742	108705742	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:108705742G>A	uc003dxl.3	-	21	2329	c.2242C>T	c.(2242-2244)Cct>Tct	p.P748S	MORC1_uc011bhn.2_Missense_Mutation_p.P727S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	748					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTAAAAGAGGAATTTCCTTT	0.279000														5			6		0	0	8.12818e-05	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586593	1586593	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:1586593G>A	uc003skv.4	-	8	1554	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	TMEM184A_uc003skt.4_Silent_p.L392L|TMEM184A_uc021zyr.1_Silent_p.L218L	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	413						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCCCCCTACAGGTCCTCCGAG	0.716000														11			9		0	0	0.000673444	0	0
MYH9	4627	broad.mit.edu	37	22	36700073	36700073	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:36700073G>A	uc003apg.3	-	18	2589	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F	MYH9_uc003aph.1_Silent_p.F650F	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	786	IQ.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCAGGCCTGGAACCCTATGA	0.622000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					28			19		0	0	0.000375601	0	0
ZNF90	7643	broad.mit.edu	37	19	20215170	20215170	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:20215170C>T	uc002nor.2	+	1	265	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	42	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACCTGGTCTTCCTTGGTGAGG	0.368000														35			23		0	0	0.000375601	0	0
CACNA1E	777	broad.mit.edu	37	1	181754859	181754859	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:181754859C>T	uc009wxt.3	+	42	5885	c.5690C>T	c.(5689-5691)cCc>cTc	p.P1897L	CACNA1E_uc001gow.3_Missense_Mutation_p.P1897L|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1878L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1897					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1897S(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAAATGCCCCCATGTTCCAG	0.478000														113			93		0	0	0.000781405	0	0
DNAH11	8701	broad.mit.edu	37	7	21906245	21906245	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:21906245G>T	uc003svc.3	+	71	11706	c.11675G>T	c.(11674-11676)aGa>aTa	p.R3892I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3892					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTCTTCTGAGAGCAATGCGC	0.413000									Kartagener syndrome					40			31		9.04072e-19	1.3124e-17	0.00058488	1	0
PAPPA2	60676	broad.mit.edu	37	1	176659394	176659394	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:176659394C>T	uc001gkz.3	+	4	3423	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S	PAPPA2_uc001gky.1_Silent_p.S753S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	753	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E752Q(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAAGAGAATCCTGCAATGACC	0.547000														44			38		0	0	0.000270559	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217787	150217787	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:150217787C>T	uc003whk.3	+	1	855	c.725C>T	c.(724-726)tCa>tTa	p.S242L	GIMAP7_uc022apu.1_Missense_Mutation_p.S242L	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	242							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCATAAATCAGAGGAAGAA	0.284000														13			35		0	0	0.000491102	0	0
RNF213	57674	broad.mit.edu	37	17	78341886	78341887	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:78341886_78341887CC>AA	uc002jyh.2	+	44	12388_12389	c.12245_12246CC>AA	c.(12244-12246)ccc>cAA	p.P4082Q	RNF213_uc021uen.1_Missense_Mutation_p.P4033Q|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGATATGCCCCTACTGTTTAA	0.535000														270			8		0	0	6.4e-05	0	0
NETO1	81832	broad.mit.edu	37	18	70526078	70526078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:70526078C>T	uc002lkw.3	-	3	736	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	NETO1_uc002lky.2_Missense_Mutation_p.R151Q|NETO1_uc002lkz.3_Missense_Mutation_p.R150Q	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	151	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAAATTGTATCGAGCTGAAAA	0.323000														26			55		0	0	0.000781405	0	0
KCNH5	27133	broad.mit.edu	37	14	63447592	63447592	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:63447592C>T	uc001xfx.3	-	5	991	c.940G>A	c.(940-942)Gag>Aag	p.E314K	KCNH5_uc001xfy.3_Missense_Mutation_p.E314K|KCNH5_uc001xfz.1_Missense_Mutation_p.E256K|KCNH5_uc001xga.3_Missense_Mutation_p.E256K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	314					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAACTTACCTCATCCACATTT	0.363000														25			14		0	0	0.000422831	0	0
CACNA1E	777	broad.mit.edu	37	1	181724450	181724450	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:181724450C>T	uc009wxt.3	+	27	4101	c.3906C>T	c.(3904-3906)atC>atT	p.I1302I	CACNA1E_uc001gow.3_Silent_p.I1302I|CACNA1E_uc009wxs.3_Silent_p.I1283I|CACNA1E_uc001gox.1_Silent_p.I528I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1302					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCATGTTCATCTTTGCTGTCA	0.483000														74			47		0	0	0.000781405	0	0
MIA3	375056	broad.mit.edu	37	1	222818929	222818930	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:222818929_222818930GG>TT	uc001hnl.3	+	6	3520_3521	c.3511_3512GG>TT	c.(3511-3513)ggg>TTg	p.G1171L	MIA3_uc009xea.1_Missense_Mutation_p.G1007L|MIA3_uc001hnm.3_Missense_Mutation_p.G49L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1171					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGTTCAGCCTGGGCCTGATTTT	0.391000														736			18		0	0	6.4e-05	0	0
CLCN7	1186	broad.mit.edu	37	16	1499018	1499018	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:1499018G>A	uc002clv.2	-	18	1856	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	CLCN7_uc002clu.2_Silent_p.P30P|CLCN7_uc002clw.2_Silent_p.P558P	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	582						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CCAGCATGATGGGGAAGCCGT	0.612000														18			13		0	0	0.000219431	0	0
MSH5	4439	broad.mit.edu	37	6	31727628	31727629	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31727628_31727629CG>AT	uc003nwu.2	+	17	1689_1690	c.1561_1562CG>AT	c.(1561-1563)cga>ATa	p.R521I	MSH5_uc003nwx.2_Missense_Mutation_p.R538I|MSH5_uc003nwv.2_Missense_Mutation_p.R521I|MSH5_uc003nww.2_Missense_Mutation_p.R521I|MSH5_uc011dof.1_Missense_Mutation_p.R220I|MSH5_uc003nwy.1_Missense_Mutation_p.R195I|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	521					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TGTCTTAACCCGAGTATTGGAC	0.609000								Direct reversal of damage;Mismatch excision repair (MMR)						781			14		0	0	6.4e-05	0	0
KCNG4	93107	broad.mit.edu	37	16	84270359	84270359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:84270359C>T	uc010voc.2	-	1	854	c.733G>A	c.(733-735)Gac>Aac	p.D245N	KCNG4_uc002fhu.1_Missense_Mutation_p.D245N	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	245						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCCCTGAGGTCGGGCATGGTG	0.642000														12			14		0	0	0.000422831	0	0
PLA1A	51365	broad.mit.edu	37	3	119336952	119336952	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:119336952C>T	uc003ecu.3	+	6	907	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	PLA1A_uc003ecv.3_Missense_Mutation_p.P265S|PLA1A_uc011bjc.2_Missense_Mutation_p.P108S|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	281					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGCCTTTCCCTGTGCCAG	0.498000														177			127		0	0	0.000781405	0	0
C19orf45	374877	broad.mit.edu	37	19	7569281	7569281	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:7569281G>A	uc002mgm.2	+	3	907	c.766G>A	c.(766-768)Gat>Aat	p.D256N	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	256			D -> G (in dbSNP:rs484870).							endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CAGGCCCCAGGATCTGCCTGA	0.587000														30			22		0	0	0.000375601	0	0
DLEC1	9940	broad.mit.edu	37	3	38158038	38158039	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:38158038_38158039GG>AA	uc003chp.1	+	27	3972_3973	c.3951_3952GG>AA	c.(3949-3954)cgggac>cgAAac	p.D1318N	DLEC1_uc003cho.1_Missense_Mutation_p.D1318N|DLEC1_uc010hgv.1_Missense_Mutation_p.D1321N|DLEC1_uc003chr.1_Missense_Mutation_p.D389N|DLEC1_uc010hgx.1_Non-coding_Transcript|DLEC1_uc003chs.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1318					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCCCGCTGCGGGACCAAGCCGG	0.599000														57			31		0	0	6.4e-05	0	0
TRIM60	166655	broad.mit.edu	37	4	165962177	165962177	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:165962177G>A	uc003iqy.1	+	2	1123	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	TRIM60_uc010iqx.1_Missense_Mutation_p.R318Q|TRIM60_uc021xty.1_Missense_Mutation_p.R318Q	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	318	B30.2/SPRY.					intracellular	zinc ion binding	p.R318Q(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAGCTGTGCGATATGAAAGA	0.413000														50			49		0	0	0.000781405	0	0
NTSR1	4923	broad.mit.edu	37	20	61340675	61340675	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:61340675C>T	uc002ydf.3	+	0	487	c.116C>T	c.(115-117)tCg>tTg	p.S39L		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	39						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GGCAACGCTTCGGGCAACGCG	0.736000														9			9		0	0	0.000442599	0	0
FBXO42	54455	broad.mit.edu	37	1	16583245	16583245	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:16583245G>A	uc001ayg.3	-	4	728	c.512C>T	c.(511-513)cCt>cTt	p.P171L	FBXO42_uc001ayf.3_Missense_Mutation_p.P78L	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	171										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTTGGGGGAAGGATAGGACCC	0.522000														17			15		0	0	0.00074312	0	0
KIF20B	9585	broad.mit.edu	37	10	91484826	91484826	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:91484826C>T	uc001kgs.1	+	14	1984	c.1912C>T	c.(1912-1914)Cgt>Tgt	p.R638C	KIF20B_uc001kgr.1_Missense_Mutation_p.R638C|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	638					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGCTGAACGTCGTTTGGCTAT	0.363000														36			35		0	0	0.000270559	0	0
DNPEP	23549	broad.mit.edu	37	2	220250763	220250763	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:220250763G>A	uc002vle.2	-	5	663	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	DNPEP_uc002vli.2_Missense_Mutation_p.R120C|DNPEP_uc010zlg.2_Missense_Mutation_p.R181C|DNPEP_uc002vlj.2_Missense_Mutation_p.R163C	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	163					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGTGGGATGCGAAGAATGGGC	0.632000														45			20		0	0	0.000295444	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721893	135721893	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:135721893C>T	uc003eqv.2	+	1	2170	c.1553C>T	c.(1552-1554)tCt>tTt	p.S518F	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	518					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATTTGGAATCTTTTTCACAG	0.368000														36			23		0	0	0.00047179	0	0
MYO3B	140469	broad.mit.edu	37	2	171260857	171260857	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:171260857C>T	uc002ufy.3	+	19	2521	c.2378C>T	c.(2377-2379)gCa>gTa	p.A793V	MYO3B_uc002ufv.3_Missense_Mutation_p.A780V|MYO3B_uc010fqb.1_Missense_Mutation_p.A793V|MYO3B_uc002ufz.3_Missense_Mutation_p.A793V|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	793	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGACTGCTTGCACTTTTGGAT	0.473000														31			18		0	0	0.00074312	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555814	45555814	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:45555814G>A	uc010dnv.3	-	3	2179	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	ZBTB7C_uc002ldb.3_Silent_p.F559F|ZBTB7C_uc010dnu.3_Silent_p.F568F|ZBTB7C_uc010dnw.3_Silent_p.F559F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	559						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCGCGCGCCCGAACAGCTTCA	0.726000														18			16		0	0	0.000422831	0	0
PRKCB	5579	broad.mit.edu	37	16	24135269	24135269	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:24135269C>T	uc002dmd.3	+	8	1229	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	PRKCB_uc002dme.3_Silent_p.F344F	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	344	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATTTTAACTTCCTAATGGTGC	0.478000														101			94		0	0	0.000781405	0	0
TAAR8	83551	broad.mit.edu	37	6	132874708	132874708	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:132874708G>A	uc011ecj.2	+	0	877	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	293						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTATATCTATGAAATTTGCTG	0.363000														67			66		0	0	0.000781405	0	0
GNB4	59345	broad.mit.edu	37	3	179132722	179132722	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:179132722C>T	uc003fjv.4	-	5	661	c.381G>A	c.(379-381)aaG>aaA	p.K127K	GNB4_uc003fju.4_Silent_p.K38K	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	127					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCTCTCTGGTCTTTAAGTTAT	0.473000														127			107		0	0	0.000781405	0	0
EI24	9538	broad.mit.edu	37	11	125450000	125450000	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:125450000G>A	uc009zbl.3	+	7	815	c.573G>A	c.(571-573)gtG>gtA	p.V191V	EI24_uc001qca.3_Silent_p.V191V|EI24_uc001qcb.3_Silent_p.V191V|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Silent_p.V177V|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	191					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		p.V191V(2)		large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GAATGTTTGTGAGTCTCTTTC	0.433000														168			133		0	0	0.000781405	0	0
NGLY1	55768	broad.mit.edu	37	3	25777523	25777523	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:25777523G>A	uc003cdl.3	-	6	1229	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	NGLY1_uc010hfg.3_Intron|NGLY1_uc003cdm.3_Missense_Mutation_p.S374F|NGLY1_uc011awo.2_Missense_Mutation_p.S332F|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	374					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TATGACATAGGAAAGCTTCTT	0.368000														23			21		0	0	0.00047179	0	0
CCDC30	728621	broad.mit.edu	37	1	43119503	43119503	+	Missense_Mutation	SNP	G	A	A	rs147050676		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:43119503G>A	uc009vwk.1	+	15	2266	c.2156G>A	c.(2155-2157)gGt>gAt	p.G719D	CCDC30_uc001chm.2_Missense_Mutation_p.G417D|CCDC30_uc001chn.2_Missense_Mutation_p.G508D	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	719										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCAGGAAAAGGTTTGGTAGAG	0.403000														20			23		0	0	0.000720815	0	0
KALRN	8997	broad.mit.edu	37	3	124103703	124103703	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:124103703C>T	uc003ehg.3	+	10	1903	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	KALRN_uc010hrv.1_Silent_p.T592T|KALRN_uc003ehf.1_Silent_p.T592T|KALRN_uc011bjy.1_Silent_p.T592T|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	592					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATACGTACACCAATGCGGACA	0.607000														25			15		0	0	0.000308642	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	CT	CT	rs121913377		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:140453136_140453137AC>CT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AG	c.(1798-1800)gtg>AGg	p.V600R		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					11			63		0	0	6.4e-05	0	0
MYH15	22989	broad.mit.edu	37	3	108183485	108183485	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:108183485C>T	uc003dxa.1	-	16	1848	c.1791_splice	c.e16+1	p.V597_splice		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	597	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGTAACTCACCACTCCTGCAT	0.398000														68			41		0	0	0.000589545	0	0
HIF3A	64344	broad.mit.edu	37	19	46832463	46832463	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:46832463G>A	uc002peh.3	+	12	1472	c.1441_splice	c.e12-1	p.D481_splice	HIF3A_uc002peg.4_Splice_Site_p.D481_splice|HIF3A_uc021uwf.1_Splice_Site_p.D425_splice|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Splice_Site_p.D412_splice|HIF3A_uc002pel.3_Splice_Site_p.D479_splice|HIF3A_uc010xxz.2_Splice_Site_p.D430_splice	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	481	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCCCTCCGCAGGATGCTGATG	0.577000														42			31		0	0	0.000953801	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777930	31777931	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31777930_31777931GG>TT	uc003nxh.3	-	1	2002_2003	c.1819_1820CC>AA	c.(1819-1821)cct>AAt	p.P607N	HSPA1L_uc010jte.3_Missense_Mutation_p.P607N|HSPA1L_uc021yuz.1_Missense_Mutation_p.P607N	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	607					response to unfolded protein		ATP binding	p.P607L(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGATGATAGGGTTACACATC	0.495000														916			21		0	0	6.4e-05	0	0
BTD	686	broad.mit.edu	37	3	15686329	15686329	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:15686329C>T	uc011avv.2	+	3	1060	c.972C>T	c.(970-972)taC>taT	p.Y324Y	BTD_uc003cah.3_Silent_p.Y322Y|BTD_uc011avw.2_Silent_p.Y324Y|BTD_uc011avx.2_Silent_p.Y302Y	NM_000060	NP_000051	P43251	BTD_HUMAN	Homo sapiens biotinidase (BTD), mRNA.	322	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CCTTTTGGTACCATGACATGG	0.502000														44			28		0	0	0.000147802	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990223	15990223	+	Missense_Mutation	SNP	G	A	A	rs142113670		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:15990223G>A	uc002nbs.1	-	11	1380	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	CYP4F2_uc010xot.1_Missense_Mutation_p.R295C	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	444					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGTCAAAGCGAAAGGGGTCG	0.577000														62			51		0	0	0.000781405	0	0
EHMT2	10919	broad.mit.edu	37	6	31847893	31847894	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31847893_31847894CG>AT	uc003nxz.1	-	27	3610_3611	c.3600_3601CG>AT	c.(3598-3603)cccgag>ccATag	p.E1201*	EHMT2_uc003nxx.1_Nonsense_Mutation_p.E399*|EHMT2_uc003nxy.1_Nonsense_Mutation_p.E999*|EHMT2_uc011don.1_Nonsense_Mutation_p.E1224*|EHMT2_uc003nya.1_Nonsense_Mutation_p.E1167*|SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1201					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGCCGAGCTCGGGCAGCAGCT	0.653000														830			14		0	0	6.4e-05	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25602	25602	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrGL000241.1:25602C>T	uc011mgv.2	-	4		c.390_splice	c.e4-1							Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CCACCAGATTCCTAAAAAATA	0.284000														254			8		0	0	0.000673444	0	0
LOC642846	642846	broad.mit.edu	37	12	9453702	9453702	+	RNA	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:9453702C>T	uc001qvp.2	+	0		c.13C>T			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.									p.P370S(2)									GGTGGTGCTGCCCTATCAGAT	0.662000														5			4		0	0	0.00024832	0	0
KAT2B	8850	broad.mit.edu	37	3	20136846	20136846	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:20136846T>A	uc003cbq.3	+	2	968	c.522T>A	c.(520-522)tgT>tgA	p.C174*		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	174					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCTTTACCTGTGTCCACAAGG	0.348000														10			8		0	0	0.000673444	0	0
SPTA1	6708	broad.mit.edu	37	1	158618345	158618345	+	Missense_Mutation	SNP	C	T	T	rs148714399	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:158618345C>T	uc001fst.1	-	25	3867	c.3668G>A	c.(3667-3669)cGa>cAa	p.R1223Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1223					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.R1223Q(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)					CTCATGCCGTCGCTGAAGAGC	0.507000														27			23		0	0	0.00047179	0	0
B4GALNT3	283358	broad.mit.edu	37	12	667718	667718	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:667718C>T	uc001qii.1	+	17	2652	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	B4GALNT3_uc001qik.1_Silent_p.F433F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	884						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACATCCACTTCCCAGCTGGAG	0.597000														36			46		0	0	0.000781405	0	0
NUP85	79902	broad.mit.edu	37	17	73204668	73204669	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:73204668_73204669GG>TT	uc002jng.1	+	1	340_341	c.80_81GG>TT	c.(79-81)tgg>tTT	p.W27F	NUP85_uc010wrv.1_Intron	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	27					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TATTTTGACTGGGGTCCAGGGG	0.361000														426			11		0	0	6.4e-05	0	0
KRT3	3850	broad.mit.edu	37	12	53186124	53186124	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:53186124G>A	uc001say.3	-	4	1153	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	363	Linker 12.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCAGGGAGCGATTATTGTCC	0.522000														31			12		0	0	0.000151284	0	0
PDE4A	5141	broad.mit.edu	37	19	10568589	10568589	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:10568589G>A	uc002moj.2	+	7	1020	c.912G>A	c.(910-912)acG>acA	p.T304T	PDE4A_uc021uow.1_Silent_p.T282T|PDE4A_uc002mok.2_Silent_p.T278T|PDE4A_uc002mol.2_Silent_p.T243T|PDE4A_uc002mom.2_Silent_p.T65T|PDE4A_uc002moo.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	304					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CATCACCCACGATGAAGGAAC	0.562000														28			21		0	0	0.00047179	0	0
NKAIN1	79570	broad.mit.edu	37	1	31655411	31655411	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:31655411G>T	uc010ogd.2	-	4	838	c.498C>A	c.(496-498)taC>taA	p.Y166*	NKAIN1_uc010ogc.2_Nonsense_Mutation_p.Y95*	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 1 (NKAIN1), mRNA.	166						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		CTTTGCTCACGTAGCAGGCGA	0.637000														33			37		9.9191e-30	1.44189e-28	0.000374591	1	0
TMC6	11322	broad.mit.edu	37	17	76120117	76120117	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:76120117G>A	uc002juj.1	-	7	1161	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Silent_p.S178S|TMC6_uc002juk.2_Silent_p.S345S|TMC6_uc010dhg.1_Silent_p.S345S|TMC6_uc002jul.1_Silent_p.S345S|TMC6_uc002jum.4_Silent_p.S136S|TMC6_uc002jun.4_Silent_p.S345S|TMC6_uc002juo.2_Silent_p.S118S	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	345						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGCCCACAGTGGAGAGGTAGG	0.617000														54			17		0	0	0.00074312	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:30795310C>T	uc003tbs.1	+	2	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000														16			23		0	0	0.000375601	0	0
ACE	1636	broad.mit.edu	37	17	61561305	61561305	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:61561305G>A	uc002jau.2	+	10	1716	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	ACE_uc010ddu.2_Missense_Mutation_p.R378Q|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	561	Peptidase M2 1.		R -> W (in dbSNP:rs4314).		arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GACATCTACCGGTCCACCAAG	0.607000														9			8		0	0	0.000274275	0	0
OR2T8	343172	broad.mit.edu	37	1	248084415	248084415	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:248084415C>T	uc010pzc.2	+	0	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTGAGTATCGTTTTGACCT	0.483000														35			22		0	0	0.000147802	0	0
PTPRA	5786	broad.mit.edu	37	20	2988017	2988018	+	Missense_Mutation	DNP	CG	AT	AT	rs142755718		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:2988017_2988018CG>AT	uc010zqd.2	+	9	1207_1208	c.890_891CG>AT	c.(889-891)ccg>cAT	p.P297H	PTPRA_uc002whj.3_Missense_Mutation_p.P286H|PTPRA_uc002whk.3_Missense_Mutation_p.P277H|PTPRA_uc002whl.3_Missense_Mutation_p.P277H|PTPRA_uc002whm.3_Missense_Mutation_p.P53H|PTPRA_uc002whn.3_Missense_Mutation_p.P277H|PTPRA_uc002who.3_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	286	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CACCTGACACCGGTTGAAGGGG	0.441000														197			8		0	0	6.4e-05	0	0
TBX18	9096	broad.mit.edu	37	6	85466540	85466540	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:85466540G>A	uc003pkl.1	-	3	647	c.647C>T	c.(646-648)tCg>tTg	p.S216L	TBX18_uc010kbq.2_Missense_Mutation_p.S58L	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	216					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGGCACAGGCGAGTCAGCATT	0.502000														22			10		0	0	0.000442599	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589737	64589738	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:64589737_64589738CG>AT	uc003dmg.3	-	24	3639_3640	c.3607_3608CG>AT	c.(3607-3609)cgg>ATg	p.R1203M	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1175M|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1032M|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R114M	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1203	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTATCTCATCCGGGTACCTTTC	0.510000														425			8		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9065925	9065925	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:9065925G>A	uc002mkp.3	-	2	21725	c.21521C>T	c.(21520-21522)gCt>gTt	p.A7174V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7176	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGATGCACAGCTTCTGTATT	0.498000														31			28		0	0	0.000720815	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858517	65858517	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:65858517C>T	uc001dce.1	+	11	2073	c.1872C>T	c.(1870-1872)acC>acT	p.T624T	DNAJC6_uc001dcc.1_Silent_p.T598T|DNAJC6_uc001dcd.1_Silent_p.T567T|DNAJC6_uc010opc.1_Silent_p.T554T	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	567	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity	p.A623G(2)		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						CCACCTCCACCTCTGCGTCTC	0.517000														21			18		0	0	0.000175454	0	0
GRIA1	2890	broad.mit.edu	37	5	153085397	153085397	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:153085397C>T	uc011dcy.2	+	10	1650	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	GRIA1_uc003lva.4_Silent_p.F531F|GRIA1_uc003luy.4_Silent_p.F531F|GRIA1_uc003luz.4_Silent_p.F436F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.F451F|GRIA1_uc011dcx.2_Silent_p.F462F|GRIA1_uc011dcz.2_Silent_p.F541F|GRIA1_uc010jia.1_Silent_p.F511F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	531					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTTCTCCTTCCTTGATCCTT	0.433000														63			49		0	0	0.000781405	0	0
UPF2	26019	broad.mit.edu	37	10	12071318	12071319	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:12071318_12071319GG>TT	uc001ila.3	-	1	1044_1045	c.570_571CC>AA	c.(568-573)tcccat>tcAAat	p.H191N	UPF2_uc001ilb.3_Missense_Mutation_p.H191N|UPF2_uc001ilc.3_Missense_Mutation_p.H191N|UPF2_uc009xiz.2_Missense_Mutation_p.H191N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	191	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAAAATCATGGGACAAGGAGT	0.381000														644			14		0	0	6.4e-05	0	0
LARP4	113251	broad.mit.edu	37	12	50869388	50869389	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:50869388_50869389GG>TT	uc001rwp.2	+	15	2118_2119	c.1916_1917GG>TT	c.(1915-1917)cgg>cTT	p.R639L	LARP4_uc001rwq.2_Missense_Mutation_p.R568L|LARP4_uc001rwt.2_Missense_Mutation_p.R497L|LARP4_uc001rws.2_Missense_Mutation_p.R638L|LARP4_uc001rwr.2_Missense_Mutation_p.R568L|LARP4_uc021qxv.1_Missense_Mutation_p.R569L|LARP4_uc009zlr.1_Missense_Mutation_p.R438L	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	639				R -> Q (in Ref. 1; BAF84435).			RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CAGCCACTACGGGAACTTCGCT	0.470000														231			11		0	0	6.4e-05	0	0
CASS4	57091	broad.mit.edu	37	20	55027325	55027325	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:55027325G>A	uc002xxp.2	+	5	1318	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	CASS4_uc002xxq.4_Missense_Mutation_p.E365K|CASS4_uc010zze.1_Missense_Mutation_p.E311K|CASS4_uc002xxr.2_Missense_Mutation_p.E365K|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	365					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGCTGGGAAGGAGCTGGAGAA	0.507000														28			20		0	0	0.000175454	0	0
XKR6	286046	broad.mit.edu	37	8	10756350	10756350	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:10756350C>T	uc003wtk.1	-	2	1065	c.1038G>A	c.(1036-1038)agG>agA	p.R346R		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	346						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCTTGTCGTCCCTGGAGTCCC	0.557000														50			55		0	0	0.000781405	0	0
BLM	641	broad.mit.edu	37	15	91308573	91308574	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:91308573_91308574GG>TT	uc002bpr.3	+	8	2219_2220	c.2122_2123GG>TT	c.(2122-2124)ggg>TTg	p.G708L	BLM_uc010uqh.2_Missense_Mutation_p.G708L|BLM_uc010uqi.2_Missense_Mutation_p.G333L|BLM_uc010bnx.3_Missense_Mutation_p.G708L	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	708	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGTTTCTCCTGGGGTCACTGTT	0.401000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					415			9		0	0	6.4e-05	0	0
PSD	5662	broad.mit.edu	37	10	104165191	104165191	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:104165191G>A	uc001kvg.1	-	11	2765	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	PSD_uc001kvh.1_Silent_p.F367F|PSD_uc009xxd.1_Silent_p.F746F	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	746					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCAGGTCCAGGAAAGGGCTGG	0.642000														49			40		0	0	0.000509022	0	0
A4GNT	51146	broad.mit.edu	37	3	137843178	137843179	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:137843178_137843179GG>TT	uc003ers.2	-	2	1152_1153	c.950_951CC>AA	c.(949-951)ccc>cAA	p.P317Q		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	317					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGTAAGTCCTGGGACAGTGCTT	0.525000														422			13		0	0	6.4e-05	0	0
AADAC	13	broad.mit.edu	37	3	151545698	151545698	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:151545698G>A	uc003eze.3	+	4	1028	c.938G>A	c.(937-939)gGg>gAg	p.G313E		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	313					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAATATCCAGGGTTCCTAGAT	0.418000														17			15		0	0	0.000422831	0	0
MYLK	4638	broad.mit.edu	37	3	123366165	123366165	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:123366165C>T	uc003ego.3	-	26	4807	c.4525G>A	c.(4525-4527)Gag>Aag	p.E1509K	MYLK_uc010hrr.3_Intron|MYLK_uc011bjv.2_Missense_Mutation_p.E309K|MYLK_uc011bjw.2_Missense_Mutation_p.E1509K|MYLK_uc003egp.3_Missense_Mutation_p.E1440K|MYLK_uc003egq.3_Missense_Mutation_p.E1509K|MYLK_uc003egr.3_Missense_Mutation_p.E1440K|MYLK_uc003egs.3_Missense_Mutation_p.E1333K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1509	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGCTAATCTCCTGCCGGATA	0.468000														35			13		0	0	0.000308642	0	0
LPA	4018	broad.mit.edu	37	6	161071500	161071500	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:161071500C>T	uc003qtl.3	-	2	199	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	2535	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Q26P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTAGCAATCCTGGACCACA	0.433000														65			44		0	0	0.000589545	0	0
ITPR2	3709	broad.mit.edu	37	12	26810792	26810792	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:26810792C>T	uc001rhg.3	-	17	2457	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	680					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.M679I(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGATGGAGCTCTCCATGGGGT	0.398000														27			26		0	0	0.000720815	0	0
PCDH17	27253	broad.mit.edu	37	13	58207873	58207873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:58207873G>A	uc001vhq.1	+	0	2085	c.1193G>A	c.(1192-1194)gGc>gAc	p.G398D	PCDH17_uc010aec.1_Missense_Mutation_p.G398D	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	398	Cadherin 4.|Gly-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGAGGGAcgggcggcggcggg	0.697000														7			4		0	0	0.00024832	0	0
DOCK1	1793	broad.mit.edu	37	10	129237336	129237336	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:129237336C>T	uc010qun.2	+	48	5170	c.5106C>T	c.(5104-5106)tcC>tcT	p.S1702S	DOCK1_uc001ljt.3_Silent_p.S1681S|DOCK1_uc009yaq.3_Silent_p.S676S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1681					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTCCAGGTCCCAGGACAAGC	0.448000														1			3		0	0	6.4e-05	0	0
ABCC11	85320	broad.mit.edu	37	16	48234320	48234320	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:48234320G>A	uc002eff.1	-	13	2299	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	ABCC11_uc002efg.1_Missense_Mutation_p.S650F|ABCC11_uc002efh.1_Missense_Mutation_p.S650F|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	650	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTGACGGTCGGAATAGACGGC	0.592000														22			13		0	0	0.000219431	0	0
CSMD1	64478	broad.mit.edu	37	8	3047478	3047478	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:3047478G>A	uc022aqr.1	-	33	5744	c.5354C>T	c.(5353-5355)cCc>cTc	p.P1785L	CSMD1_uc011kwj.2_Missense_Mutation_p.P1178L|CSMD1_uc003wqe.3_Missense_Mutation_p.P942L|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1786	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAGGCGTTGGGCACGGACTG	0.602000														1			4		0	0	0.000602214	0	0
DNAH11	8701	broad.mit.edu	37	7	21920343	21920343	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:21920343G>A	uc003svc.3	+	75	12271	c.12240G>A	c.(12238-12240)aaG>aaA	p.K4080K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4080	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATGCTCCAAGGAGCAGGAGT	0.463000									Kartagener syndrome					85			57		0	0	0.000781405	0	0
KLK3	354	broad.mit.edu	37	19	51361716	51361716	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:51361716C>T	uc021uyi.1	+	4	535	c.494_splice	c.e4-1	p.F165_splice	KLK3_uc002pts.1_Splice_Site_p.F165_splice|KLK3_uc002ptr.1_Splice_Site_p.F122_splice|KLK3_uc010eof.1_Splice_Site	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	165	Peptidase S1.			FLTP -> HLLYDQM (in Ref. 13; AA sequence).	negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GGCCCGTAGTCTTGACCCCAA	0.552000														60			63		0	0	0.000781405	0	0
VWA3B	200403	broad.mit.edu	37	2	98928668	98928668	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:98928668C>T	uc002syo.3	+	27	4005	c.3741C>T	c.(3739-3741)gcC>gcT	p.A1247A	VWA3B_uc002syr.1_Missense_Mutation_p.P620L|VWA3B_uc002sys.3_Splice_Site	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1247										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCAGACAGCCCACCTCCACT	0.582000														19			21		0	0	0.00047179	0	0
LY6G5C	80741	broad.mit.edu	37	6	31644829	31644830	+	Silent	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31644829_31644830GG>TT	uc003nvu.2	-	2	357_358	c.357_358CC>AA	c.(355-360)acccga>acAAga	p.119_120TR>TR	LY6G5C_uc003nvw.1_Non-coding_Transcript|LY6G5C_uc010jtb.1_Non-coding_Transcript	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G5C (LY6G5C), mRNA.	119	UPAR/Ly6.					extracellular region		p.R117R(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GGAGAAGTTCGGGTATTTGAAC	0.505000														667			11		0	0	6.4e-05	0	0
NOL4	8715	broad.mit.edu	37	18	31803074	31803074	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:31803074C>T	uc010dmi.3	-	0	442	c.144G>A	c.(142-144)acG>acA	p.T48T	NOL4_uc002kxr.4_5'Flank|NOL4_uc010xbt.2_5'Flank|NOL4_uc010dmh.3_5'Flank|NOL4_uc010xbu.2_Silent_p.T48T|NOL4_uc002kxt.4_Silent_p.T48T	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	48						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGGCGTTGTCCGTGGAGCTCG	0.597000														36			60		0	0	0.000781405	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758710	62758710	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:62758710C>T	uc011kdj.2	-	1	168	c.100G>A	c.(100-102)Gat>Aat	p.D34N						Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA.																		TGAGCACAATCCAGGCATTGC	0.393000														19			14		0	0	0.000422831	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398710	10398711	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:10398710_10398711GG>TT	uc003myr.3	-	6	1505_1506	c.1253_1254CC>AA	c.(1252-1254)ccc>cAA	p.P418Q	TFAP2A_uc003myq.3_Missense_Mutation_p.P412Q|TFAP2A_uc003mys.3_Non-coding_Transcript|TFAP2A_uc011dih.2_3'UTR|TFAP2A_uc003myt.3_Missense_Mutation_p.P414Q	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	418					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TGTGGCTGTTGGGGTTGTTGCT	0.624000														758			15		0	0	6.4e-05	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195938160	195938160	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:195938160C>T	uc003fwc.3	-	0	141	c.27G>A	c.(25-27)ccG>ccA	p.P9P	ZDHHC19_uc010iaa.3_Non-coding_Transcript|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	9						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CCTTCACCAGCGGCGTGGCAT	0.627000														55			24		0	0	0.000586117	0	0
CAPSL	133690	broad.mit.edu	37	5	35910027	35910027	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:35910027C>T	uc003jjt.1	-	3	561	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	CAPSL_uc003jju.1_Missense_Mutation_p.E156K	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	156	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			AATACTTGTTCCTCACTCCAT	0.378000														79			55		0	0	0.000781405	0	0
A4GNT	51146	broad.mit.edu	37	3	137843270	137843271	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:137843270_137843271GG>TT	uc003ers.2	-	2	1060_1061	c.858_859CC>AA	c.(856-861)gccctg>gcAAtg	p.L287M		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	287					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CACAAATGCAGGGCATAAGAGA	0.500000														405			15		0	0	6.4e-05	0	0
DOCK7	85440	broad.mit.edu	37	1	63024887	63024887	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:63024887G>A	uc001daq.3	-	19	2238	c.2204C>T	c.(2203-2205)cCt>cTt	p.P735L	DOCK7_uc001dan.3_Missense_Mutation_p.P627L|DOCK7_uc001dao.3_Missense_Mutation_p.P627L|DOCK7_uc001dap.3_Missense_Mutation_p.P735L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	735	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity	p.D734N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTCAAGATAAGGATCCTAAAA	0.363000														12			15		0	0	0.00074312	0	0
NBPF1	55672	broad.mit.edu	37	1	16893761	16893761	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:16893761G>A	uc009vos.1	-	24	3640	c.2752C>T	c.(2752-2754)Ctt>Ttt	p.L918F	NBPF1_uc009vot.1_Missense_Mutation_p.L376F|NBPF1_uc001ayz.1_Missense_Mutation_p.L376F|NBPF1_uc010oce.1_Missense_Mutation_p.L647F	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	918	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTCAGTTCAAGATAACCTGAA	0.498000														517			17		0	0	0.000566183	0	0
HMGCS1	3157	broad.mit.edu	37	5	43294168	43294168	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:43294168A>C	uc003jnr.4	-	7	1380	c.1173T>G	c.(1171-1173)gaT>gaG	p.D391E	HMGCS1_uc003jnp.4_Missense_Mutation_p.D72E|HMGCS1_uc003jnq.4_Missense_Mutation_p.D391E	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	391					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CCGGTGTAGCATCTTGTGTGA	0.473000														30			9		0	0	0.000442599	0	0
COL5A3	50509	broad.mit.edu	37	19	10107314	10107314	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:10107314G>A	uc002mmq.1	-	11	1401	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	439	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.P439P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACAGTGCCCGGTGGGCCTCGG	0.647000														27			16		0	0	0.000566183	0	0
ZNF323	64288	broad.mit.edu	37	6	28294030	28294031	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:28294030_28294031GG>TT	uc003nlc.3	-	3	1522_1523	c.1133_1134CC>AA	c.(1132-1134)ccc>cAA	p.P378Q	ZNF323_uc003nld.3_Missense_Mutation_p.P378Q|ZNF323_uc010jra.3_Missense_Mutation_p.P378Q|ZNF323_uc003nla.3_Missense_Mutation_p.P378Q|ZNF323_uc003nlb.3_Missense_Mutation_p.P219Q|ZNF323_uc010jrb.3_Missense_Mutation_p.P219Q|ZNF323_uc021yrs.1_Missense_Mutation_p.P378Q|ZNF323_uc021yrt.1_Missense_Mutation_p.P219Q	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	378					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TGCACTGATAGGGTTTCTCACC	0.470000														340			11		0	0	6.4e-05	0	0
DNAH2	146754	broad.mit.edu	37	17	7697672	7697672	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:7697672C>T	uc002giu.1	+	47	7684	c.7670C>T	c.(7669-7671)cCc>cTc	p.P2557L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2557	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGACCTTCCCCACAGTGAGG	0.612000														5			15		0	0	0.000219431	0	0
CHD4	1108	broad.mit.edu	37	12	6709001	6709001	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:6709001G>A	uc001qpo.3	-	9	1584	c.1420C>T	c.(1420-1422)Cac>Tac	p.H474Y	CHD4_uc001qpn.3_Missense_Mutation_p.H467Y|CHD4_uc001qpp.3_Missense_Mutation_p.H471Y	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	474					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCAGGCAGTGGATGTGGTAG	0.542000														41			31		0	0	0.00058488	0	0
IPO13	9670	broad.mit.edu	37	1	44423214	44423214	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:44423214C>T	uc001ckx.3	+	6	2328	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	511					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGTCATGTTCACCATTGGTG	0.552000														28			33		0	0	0.00058488	0	0
GPR37	2861	broad.mit.edu	37	7	124386989	124386989	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:124386989G>A	uc003vli.3	-	1	2083	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	478						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTATTCCCTCGGGTACAGGCT	0.433000														31			16		0	0	0.000566183	0	0
CHD7	55636	broad.mit.edu	37	8	61769341	61769341	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:61769341C>T	uc003xue.3	+	33	7994	c.7502C>T	c.(7501-7503)tCc>tTc	p.S2501F	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2501					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTAATGGCTCCCTAGTGGAT	0.517000														66			50		0	0	0.000781405	0	0
MEST	4232	broad.mit.edu	37	7	130137004	130137005	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:130137004_130137005GG>TT	uc003vqg.3	+	2	445_446	c.189_190GG>TT	c.(187-192)gtgggt>gtTTgt	p.G64C	MEST_uc003vqc.3_Missense_Mutation_p.G55C|MEST_uc003vqd.3_Missense_Mutation_p.G55C|MEST_uc022alp.1_Missense_Mutation_p.G55C|MEST_uc003vqf.3_Missense_Mutation_p.G55C|MEST_uc011kph.2_Missense_Mutation_p.G50C	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	64					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TAGACTCTGTGGGTGTGGTTGG	0.386000														754			10		0	0	6.4e-05	0	0
RANGAP1	5905	broad.mit.edu	37	22	41652800	41652800	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:41652800A>C	uc003azs.3	-	6	2273	c.803T>G	c.(802-804)gTg>gGg	p.V268G	RANGAP1_uc003azt.3_Missense_Mutation_p.V268G|RANGAP1_uc003azu.3_Missense_Mutation_p.V268G|RANGAP1_uc011aoz.2_Missense_Mutation_p.V213G	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	268					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding	p.V268G(6)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAATTAATCACCTCCACCTG	0.637000														13			7		0	0	0.000958276	0	0
COL28A1	340267	broad.mit.edu	37	7	7516792	7516792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:7516792C>T	uc003src.1	-	13	1301	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	COL28A1_uc011jxe.1_Missense_Mutation_p.G78E|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	395	Collagen-like 3.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTGGTACTCCCTCAGGACC	0.498000														36			27		0	0	0.000227799	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777845	31777846	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31777845_31777846GG>TT	uc003nxh.3	-	1	2087_2088	c.1904_1905CC>AA	c.(1903-1905)ccc>cAA	p.P635Q	HSPA1L_uc010jte.3_Missense_Mutation_p.P635Q|HSPA1L_uc021yuz.1_Missense_Mutation_p.P635Q	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	635					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCAATTGTGGGGCCTGTGGC	0.450000														896			12		0	0	6.4e-05	0	0
CAPN13	92291	broad.mit.edu	37	2	30976031	30976031	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:30976031G>A	uc021vfn.1	-	8	1007	c.975C>T	c.(973-975)atC>atT	p.I325I	CAPN13_uc021vfm.1_Silent_p.I325I|CAPN13_uc002rnp.1_Silent_p.I325I	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	325	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.I325I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAAACATGGCGATGAATTTCT	0.438000														65			25		0	0	0.000586117	0	0
CTSG	1511	broad.mit.edu	37	14	25042852	25042852	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:25042852G>A	uc001wpq.3	-	4	796	c.759C>T	c.(757-759)acC>acT	p.T253T		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	253					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTCACAGGGGGGTCTCCATCT	0.502000														110			81		0	0	0.000781405	0	0
AIM1	202	broad.mit.edu	37	6	107001438	107001438	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:107001438G>A	uc003prh.3	+	13	5269	c.4357G>A	c.(4357-4359)Ggc>Agc	p.G1453S	AIM1_uc003pri.3_Missense_Mutation_p.G257S	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1453	Beta/gamma crystallin 'Greek key' 10.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGTTTCAGGAGGCAGGTAAGT	0.408000														20			17		0	0	0.00074312	0	0
MYH14	79784	broad.mit.edu	37	19	50781504	50781504	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:50781504G>A	uc010enu.1	+	29	4037	c.3990G>A	c.(3988-3990)gaG>gaA	p.E1330E	MYH14_uc002prq.1_Silent_p.E1297E|MYH14_uc002prr.1_Silent_p.E1289E|MYH14_uc010ycb.2_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1289					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.E1289D(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTGATGGGGAGAGGGCACGAG	0.657000														5			4		0	0	0.00024832	0	0
GPR112	139378	broad.mit.edu	37	X	135430340	135430340	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:135430340C>T	uc004ezu.1	+	5	4766	c.4475C>T	c.(4474-4476)cCa>cTa	p.P1492L	GPR112_uc010nsb.1_Missense_Mutation_p.P1287L|GPR112_uc010nsc.1_Missense_Mutation_p.P1259L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1492					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTGTTCCAAATGTACCT	0.448000														4			14		0	0	0.000151284	0	0
ARSH	347527	broad.mit.edu	37	X	2933378	2933378	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:2933378G>A	uc011mhj.2	+	3	708	c.708G>A	c.(706-708)atG>atA	p.M236I		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	236						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGCAGCCAATGAAAGAGGAGA	0.408000														1			18		0	0	0.000958276	0	0
SBNO1	55206	broad.mit.edu	37	12	123804514	123804514	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:123804514G>A	uc010tap.2	-	18	2732	c.2732C>T	c.(2731-2733)tCt>tTt	p.S911F	SBNO1_uc010tao.2_Missense_Mutation_p.S910F|SBNO1_uc010taq.2_Intron	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	911							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATCAAGTTCAGATCTTGACTC	0.398000														48			37		0	0	0.000814825	0	0
SHANK2	22941	broad.mit.edu	37	11	70332561	70332561	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:70332561C>T	uc001oqc.3	-	20	3751	c.3639G>A	c.(3637-3639)gaG>gaA	p.E1213E	SHANK2_uc010rqn.2_Silent_p.E689E|SHANK2_uc001opz.3_Silent_p.E684E|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	900					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGTACTTGTTCTCCGTCTCCT	0.597000														41			30		0	0	0.000339439	0	0
HOXD10	3236	broad.mit.edu	37	2	176983919	176983919	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:176983919A>G	uc002ukj.3	+	1	1053	c.983A>G	c.(982-984)aAc>aGc	p.N328S		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	328						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGCCGAGAGAACCGGATCCGA	0.562000														36			16		0	0	0.00074312	0	0
PARP12	64761	broad.mit.edu	37	7	139724492	139724492	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:139724492G>A	uc003vvl.1	-	11	2848	c.1974C>T	c.(1972-1974)ccC>ccT	p.P658P	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	658	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CAAAGATGGAGGGGTCGGACA	0.577000														26			92		0	0	0.000781405	0	0
CLIP1	6249	broad.mit.edu	37	12	122862061	122862061	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:122862061C>T	uc001ucg.2	-	2	687	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	CLIP1_uc001uch.1_Missense_Mutation_p.E178K|CLIP1_uc001uci.1_Missense_Mutation_p.E178K|CLIP1_uc010tae.2_Missense_Mutation_p.E178K	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	178	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCTGAAGGTTCCTTTGCTGCT	0.512000														90			93		0	0	0.000781405	0	0
PDE6B	5158	broad.mit.edu	37	4	657927	657927	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:657927C>T	uc003gap.3	+	16	2099	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	PDE6B_uc003gao.4_Silent_p.I682I|PDE6B_uc011buy.2_Silent_p.I403I|PDE6B_uc011buz.2_Silent_p.I114I	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	682					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TTCAGAAGATCGTGGATGAGT	0.607000														50			32		0	0	0.000814825	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770235	91770235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:91770235C>T	uc010aty.3	-	19	3599	c.3445G>A	c.(3445-3447)Gag>Aag	p.E1149K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1149					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTTTCGTTCTCCGTCTCCTTG	0.647000														31			27		0	0	0.000227799	0	0
ATG2A	23130	broad.mit.edu	37	11	64663933	64663933	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:64663933C>T	uc001obx.3	-	39	5542	c.5427_splice	c.e39+1	p.Q1809_splice	ATG2A_uc001obw.3_Splice_Site_p.Q574_splice	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1809							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACCCACTCACCTGGATAGCC	0.637000														6			8		0	0	0.000157383	0	0
OR6S1	341799	broad.mit.edu	37	14	21109418	21109418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:21109418G>A	uc001vxv.1	-	0	433	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AAGGCCACACGAAAGCACACA	0.592000														15			7		0	0	8.12818e-05	0	0
EDC3	80153	broad.mit.edu	37	15	74967365	74967365	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:74967365G>A	uc002ayn.3	-	4	589	c.101C>T	c.(100-102)aCc>aTc	p.T34I	EDC3_uc002ayo.3_Missense_Mutation_p.T34I|EDC3_uc002aym.3_Missense_Mutation_p.T34I	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	34	Required for P-body targeting and interaction with DCP1A (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GAGAGAAATGGTCTGGCTGAC	0.493000														119			84		0	0	0.000781405	0	0
AFF1	4299	broad.mit.edu	37	4	88029343	88029343	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:88029343C>T	uc011ccz.2	+	10	1684	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	AFF1_uc003hqj.4_Missense_Mutation_p.S463L|AFF1_uc003hqk.4_Missense_Mutation_p.S463L|AFF1_uc011cda.2_Missense_Mutation_p.S101L	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	463						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCAGTGGCATCAGCACATTCC	0.483000														42			16		0	0	0.00074312	0	0
FAM83B	222584	broad.mit.edu	37	6	54806270	54806270	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:54806270C>T	uc003pck.3	+	4	2617	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	834	Poly-Ser.									autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGCATTCTTCCTCATCGAAT	0.378000														16			7		0	0	0.000442599	0	0
SPNS3	201305	broad.mit.edu	37	17	4389851	4389851	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:4389851G>A	uc002fxt.3	+	10	1467	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	SPNS3_uc002fxu.3_Missense_Mutation_p.E348K|AX748345_uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	475					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGAGAGAGACGAGACCCGGGC	0.677000														9			20		0	0	0.000586117	0	0
SMOC1	64093	broad.mit.edu	37	14	70418873	70418873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:70418873G>A	uc001xlt.2	+	1	400	c.118G>A	c.(118-120)Gac>Aac	p.D40N	SMOC1_uc001xls.2_Missense_Mutation_p.D40N	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	40	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R39S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAGTGACCGTGACCCACAGTG	0.488000														48			33		0	0	0.000953801	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541240	133541240	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:133541240G>A	uc002ttp.3	-	13	3518	c.3144C>T	c.(3142-3144)acC>acT	p.T1048T	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1048							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGCGAGGAGAGGTTTTGGGGA	0.557000														42			31		0	0	0.000227799	0	0
APOB	338	broad.mit.edu	37	2	21235357	21235358	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:21235357_21235358CC>AA	uc002red.3	-	25	4510_4511	c.4382_4383GG>TT	c.(4381-4383)tgg>tTT	p.W1461F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1461					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGTGGTCCCCAGGAACTAGA	0.381000														349			15		0	0	6.4e-05	0	0
OR51B6	390058	broad.mit.edu	37	11	5372888	5372888	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:5372888C>T	uc010qzb.2	+	0	151	c.151C>T	c.(151-153)Cat>Tat	p.H51Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGATCATAACCTCCA	0.463000														33			26		0	0	0.000227799	0	0
MLL3	58508	broad.mit.edu	37	7	151900066	151900066	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:151900066G>A	uc003wla.3	-	25	4264	c.4045C>T	c.(4045-4047)Cga>Tga	p.R1349*	MLL3_uc003wkz.3_Nonsense_Mutation_p.R410*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1349					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCCTTTTTCGGTATCTCTTC	0.318000			N		medulloblastoma									34			9		0	0	0.000274275	0	0
OR5H14	403273	broad.mit.edu	37	3	97868313	97868313	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:97868313C>T	uc003dsg.1	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28L(2)|p.L27Q(1)|p.L27M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TACCCCTGTTCCTGGCATTCT	0.423000														30			23		0	0	0.000953801	0	0
RBL2	5934	broad.mit.edu	37	16	53487496	53487496	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:53487496C>G	uc002ehi.4	+	5	1017	c.899C>G	c.(898-900)cCc>cGc	p.P300R	RBL2_uc010vgv.1_Missense_Mutation_p.P226R|RBL2_uc002ehj.3_5'UTR|RBL2_uc010vgw.2_Missense_Mutation_p.P84R	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	300					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTCTGGAAACCCTATATTAGG	0.358000														170			173		0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104084292	104084292	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:104084292C>T	uc001tjw.3	+	29	3459	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1091	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGGCAACTTCCTTCACTTGG	0.403000														45			27		0	0	0.000227799	0	0
TAB1	10454	broad.mit.edu	37	22	39824104	39824104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:39824104C>T	uc003axt.3	+	9	1272	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	TAB1_uc003axr.3_Missense_Mutation_p.S484F|TAB1_uc011aok.2_Missense_Mutation_p.S242F|TAB1_uc003axu.1_Missense_Mutation_p.S408F	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	408					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GTGACCCTCTCCCTTGTCATG	0.622000														30			19		0	0	0.000229342	0	0
SLIT3	6586	broad.mit.edu	37	5	168250273	168250273	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:168250273G>A	uc010jjg.3	-	6	1041	c.621C>T	c.(619-621)atC>atT	p.I207I	SLIT3_uc003mab.3_Silent_p.I207I|SLIT3_uc010jji.2_Silent_p.I207I|SLIT3_uc003mac.1_Silent_p.I4I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	207					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGAGTTCGGATCTTCGGCA	0.512000														86			66		0	0	0.000781405	0	0
R3HDM1	23518	broad.mit.edu	37	2	136479545	136479545	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:136479545C>T	uc002tuo.3	+	23	3198	c.2828C>T	c.(2827-2829)gCt>gTt	p.A943V	R3HDM1_uc010fni.3_Missense_Mutation_p.A942V|R3HDM1_uc002tup.3_Missense_Mutation_p.A888V|R3HDM1_uc010zbh.2_Missense_Mutation_p.A691V	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	943							nucleic acid binding	p.A943V(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AATCCTCCTGCTGTTCTGCAC	0.468000														41			28		0	0	0.000491102	0	0
SLIT3	6586	broad.mit.edu	37	5	168180945	168180945	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:168180945C>T	uc010jjg.3	-	16	2173	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	SLIT3_uc003mab.3_Missense_Mutation_p.E585K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	585					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCATCAGCTCCTGCACGCTG	0.562000														14			9		0	0	0.000274275	0	0
OR2T34	127068	broad.mit.edu	37	1	248737333	248737333	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:248737333G>A	uc001iep.1	-	0	726	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGTGGCCAAGGCCTTCCTGC	0.567000														82			39		0	0	0.000374591	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112017848	112017848	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:112017848C>T	uc004bdz.1	-	10	1407	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	EPB41L4B_uc004bea.3_Missense_Mutation_p.G371E	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	371						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGCTGTTTCCTGGCGTCCG	0.522000														4			33		0	0	0.000491102	0	0
FAM83B	222584	broad.mit.edu	37	6	54735455	54735455	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:54735455A>T	uc003pck.3	+	1	527	c.411A>T	c.(409-411)gaA>gaT	p.E137D		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	137										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CGATAAAAGAAACTATTCGGA	0.363000														35			16		0	0	0.000566183	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124228431	124228431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:124228431C>T	uc001ufr.3	+	9	1386	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	380					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CGAGGGATTTCAGAACATCGT	0.458000														65			48		0	0	0.000781405	0	0
NCOA3	8202	broad.mit.edu	37	20	46265098	46265098	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:46265098C>T	uc002xtk.3	+	11	2229	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P	NCOA3_uc002xtl.3_Silent_p.P656P|NCOA3_uc002xtn.3_Silent_p.P656P|NCOA3_uc010ght.2_Silent_p.P666P|NCOA3_uc002xtm.3_Silent_p.P656P|NCOA3_uc010zyc.2_Silent_p.P451P	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	656	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCACCAGCCCCTCTGGAGTCT	0.478000														39			27		0	0	0.000279167	0	0
DCAF11	80344	broad.mit.edu	37	14	24592188	24592188	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:24592188C>T	uc001wlv.3	+	13	1688	c.1408C>T	c.(1408-1410)Ctt>Ttt	p.L470F	DCAF11_uc001wlw.3_Missense_Mutation_p.L470F|DCAF11_uc001wlz.3_Missense_Mutation_p.L370F|DCAF11_uc001wly.3_Missense_Mutation_p.L426F|DCAF11_uc010tny.2_Missense_Mutation_p.L337F|DCAF11_uc001wmc.3_Missense_Mutation_p.L370F|DCAF11_uc001wmb.4_Missense_Mutation_p.L444F|DCAF11_uc001wma.4_Missense_Mutation_p.L470F	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	470						CUL4 RING ubiquitin ligase complex	protein binding										AGTGTACGACCTTCTAAGTGG	0.532000														38			24		0	0	0.000586117	0	0
MUC16	94025	broad.mit.edu	37	19	9075775	9075775	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:9075775C>T	uc002mkp.3	-	2	11875	c.11671G>A	c.(11671-11673)Gaa>Aaa	p.E3891K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3892	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGTATCTTCTGAGACAGAA	0.453000														15			16		0	0	0.000566183	0	0
UPF2	26019	broad.mit.edu	37	10	11973761	11973762	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:11973761_11973762GG>TT	uc001ila.3	-	18	4040_4041	c.3566_3567CC>AA	c.(3565-3567)ccc>cAA	p.P1189Q	UPF2_uc001ilb.3_Missense_Mutation_p.P1189Q|UPF2_uc001ilc.3_Missense_Mutation_p.P1189Q	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1189	Interaction with UPF1.|Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GAGAGGACATGGGTACATTAAG	0.376000														518			11		0	0	6.4e-05	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679939	75679939	+	RNA	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:75679939C>T	uc021xar.1	+	0		c.26C>T								Homo sapiens microRNA 1324 (MIR1324), microRNA.																		GAAGCCTGGTCCTGCCCTCAC	0.552000														47			8		0	0	6.40141e-05	0	0
RDBP	7936	broad.mit.edu	37	6	31922858	31922859	+	Missense_Mutation	DNP	GG	TT	TT	rs138737372		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31922858_31922859GG>TT	uc003nyk.3	-	5	585_586	c.381_382CC>AA	c.(379-384)ccccag>ccAAag	p.Q128K	RDBP_uc011dot.2_Missense_Mutation_p.Q128K|RDBP_uc021yvb.1_Missense_Mutation_p.Q128K	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	128					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						GATTTCCTCTGGGGACGTCTGG	0.455000														610			14		0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13931332	13931332	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:13931332C>T	uc003jfd.2	-	1	121	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	27	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCTTGGCTTCCTTCTCTCCC	0.393000									Kartagener syndrome					40			25		0	0	0.000184323	0	0
NOS1	4842	broad.mit.edu	37	12	117728218	117728218	+	Missense_Mutation	SNP	C	T	T	rs147820513		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:117728218C>T	uc001twn.2	-	3	1577	c.866G>A	c.(865-867)gGa>gAa	p.G289E	NOS1_uc021ren.1_5'UTR|NOS1_uc021reo.1_5'UTR|NOS1_uc001twm.2_Missense_Mutation_p.G289E	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	289					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.G289E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGACTGTTTTCCTGAGGTGGG	0.557000														18			18		0	0	0.000958276	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63851163	63851163	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:63851163G>A	uc001xgd.1	-	12	1792	c.1202_splice	c.e12+1	p.P401_splice	PPP2R5E_uc010tsf.1_Splice_Site_p.P325_splice|PPP2R5E_uc010tsg.1_Splice_Site_p.P325_splice|PPP2R5E_uc010tsh.1_Splice_Site_p.P401_splice|PPP2R5E_uc001xge.2_Splice_Site_p.P401_splice|PPP2R5E_uc001xgf.1_Splice_Site	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	401					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AAAACCTACGGATTCCAATGT	0.398000														58			53		0	0	0.000781405	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221520	118221520	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:118221520G>A	uc004era.4	-	10	3673	c.3673C>T	c.(3673-3675)Cct>Tct	p.P1225S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1225										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GATTTGGAAGGAAGATTGGGA	0.453000														3			15		0	0	0.000422831	0	0
ABCB1	5243	broad.mit.edu	37	7	87180059	87180059	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:87180059G>A	uc003uiz.2	-	10	1588	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	ABCB1_uc011khc.2_Silent_p.I301I	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	365					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.E364D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTATCTTGAAGATTTCATAAG	0.378000														11			23		0	0	0.000295444	0	0
CA3	761	broad.mit.edu	37	8	86358512	86358512	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:86358512G>T	uc003ydj.3	+	5	732	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	217					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCCCATGACCGTGAGCTCTGA	0.532000														31			15		1.5739e-10	2.26293e-09	0.000422831	1	0
F2RL1	2150	broad.mit.edu	37	5	76129177	76129178	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:76129177_76129178GG>TT	uc003keo.3	+	1	920_921	c.745_746GG>TT	c.(745-747)ggg>TTg	p.G249L		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	249					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TCTGGCCATTGGGGTCTTTCTG	0.490000														514			10		0	0	6.4e-05	0	0
WDR76	79968	broad.mit.edu	37	15	44120337	44120337	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:44120337G>A	uc001zti.2	+	1	354	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	WDR76_uc021skg.1_Missense_Mutation_p.V15M	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	79										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TAACAATGAAGTGGCGTGTAA	0.398000														57			37		0	0	0.00058488	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939556	12939556	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:12939556G>A	uc001aun.2	-	3	1317	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	416										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGGGGCAGGATACAGCTCC	0.512000														182			123		0	0	0.000781405	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161438	25161438	+	RNA	SNP	T	A	A	rs3869320	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:25161438T>A	uc001upm.3	+	7		c.962T>A			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		CTCTTTATAATAAGATTCATT	0.378000														35			6		0	0	0.000157383	0	0
ABCC9	10060	broad.mit.edu	37	12	21964988	21964988	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:21964988G>A	uc001rfh.3	-	33	4226	c.4206C>T	c.(4204-4206)tcC>tcT	p.S1402S	ABCC9_uc001rfi.1_Silent_p.S1402S	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1402	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTACCTAATGGAACCACTGA	0.373000														23			12		0	0	0.00010058	0	0
SCN11A	11280	broad.mit.edu	37	3	38936092	38936092	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:38936092C>T	uc021wvy.1	-	14	2966	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	SCN11A_uc010hhn.1_Missense_Mutation_p.E39K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	923					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACGTCATCTTCCTCCTCCGCA	0.498000														122			56		0	0	0.000781405	0	0
KCNH1	3756	broad.mit.edu	37	1	210856840	210856840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:210856840G>A	uc001hib.2	-	10	2923	c.2753C>T	c.(2752-2754)cCt>cTt	p.P918L	KCNH1_uc001hic.2_Missense_Mutation_p.P891L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	918					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CGTCTGCTCAGGGATGGGGTA	0.572000														22			39		0	0	0.000953801	0	0
PTPRB	5787	broad.mit.edu	37	12	70946612	70946612	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:70946612C>T	uc001swb.4	-	18	4708	c.4678G>A	c.(4678-4680)Gat>Aat	p.D1560N	PTPRB_uc010sto.2_Missense_Mutation_p.D1470N|PTPRB_uc010stp.2_Missense_Mutation_p.D1470N|PTPRB_uc001swc.4_Missense_Mutation_p.D1778N|PTPRB_uc001swa.4_Missense_Mutation_p.D1690N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1560					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGTGGGATCGCATTTTCCA	0.423000														26			26		0	0	0.000147802	0	0
BTNL8	79908	broad.mit.edu	37	5	180374558	180374559	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:180374558_180374559GG>TT	uc003mmp.3	+	3	954_955	c.720_721GG>TT	c.(718-723)ctggga>ctTTga	p.G241*	BTNL8_uc003mmq.3_Nonsense_Mutation_p.G241*|BTNL8_uc010jll.3_Nonsense_Mutation_p.G241*|BTNL8_uc011dhg.2_Nonsense_Mutation_p.G116*|BTNL8_uc010jlm.3_Nonsense_Mutation_p.G125*|BTNL8_uc011dhh.2_Nonsense_Mutation_p.G57*	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	241						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAAGTACTGGGAATACTCTG	0.431000														274			10		0	0	6.4e-05	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713773	32713773	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32713773C>T	uc003obx.3	+	2	595	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	179	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCACCTTCCTCCCTTCTG	0.512000														203			50		0	0	0.000781405	0	0
PTPRT	11122	broad.mit.edu	37	20	40944419	40944419	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:40944419G>A	uc002xkg.3	-	11	2267	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	PTPRT_uc010ggj.3_Missense_Mutation_p.L695F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	695	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L695L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGGAGAGAGAGGAGGGTTC	0.498000														35			35		0	0	0.000814825	0	0
abParts	0	broad.mit.edu	37	14	106610746	106610746	+	RNA	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:106610746G>A	uc021ser.1	-	1668		c.31914C>T								Parts of antibodies, mostly variable regions.																		TAGCAGCAAGGAAAATCCAGC	0.463000														43			32		0	0	0.000191422	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255384	50255384	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:50255384C>T	uc003cyn.4	+	10	1029	c.888C>T	c.(886-888)ttC>ttT	p.F296F	SLC38A3_uc011bdl.2_Silent_p.F272F|SLC38A3_uc011bdm.2_Silent_p.F228F	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	297					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTTCGCCTTCGTCTGCCACC	0.617000														34			13		0	0	0.000308642	0	0
BPIFA2	140683	broad.mit.edu	37	20	31760844	31760844	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:31760844C>T	uc002wyo.1	+	2	335	c.264C>T	c.(262-264)gtC>gtT	p.V88V		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	88						extracellular region	lipid binding	p.V88V(1)									TGAACAATGTCATTTCTAAGC	0.463000														40			28		0	0	0.000184323	0	0
OR4A16	81327	broad.mit.edu	37	11	55111634	55111634	+	Missense_Mutation	SNP	C	T	T	rs78935813		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:55111634C>T	uc010rie.2	+	0	958	c.958C>T	c.(958-960)Cct>Tct	p.P320S		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CATATTTATTCCTAGTTCTAA	0.348000														7			4		0	0	3.59834e-05	0	0
FOXI1	2299	broad.mit.edu	37	5	169532973	169532973	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:169532973C>T	uc003mai.4	+	0	57	c.12C>T	c.(10-12)ttC>ttT	p.F4F	FOXI1_uc003maj.4_Silent_p.F4F	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	4				SSF -> NSG (in Ref. 2; AAB50574).	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCTCCTTCGACCTGCCGG	0.692000									Pendred syndrome					9			12		0	0	0.000219431	0	0
USP4	7375	broad.mit.edu	37	3	49363195	49363196	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:49363195_49363196GG>TT	uc003cwq.2	-	3	522_523	c.443_444CC>AA	c.(442-444)ccc>cAA	p.P148Q	USP4_uc003cwr.2_Missense_Mutation_p.P148Q|USP4_uc021wxv.1_Missense_Mutation_p.P148Q	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	148					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCACATTGGTGGGGTCACTGTT	0.530000														232			9		0	0	6.4e-05	0	0
CFB	629	broad.mit.edu	37	6	31918923	31918923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31918923G>A	uc003nyj.4	+	14	2136	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	CFB_uc011dor.2_Missense_Mutation_p.E1122K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	620	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCGTCCAGAGGAAGAGCTGCT	0.507000														112			244		0	0	0.000781405	0	0
ANAPC16	119504	broad.mit.edu	37	10	73992860	73992860	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:73992860C>T	uc001jsw.3	+	4	811	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	ANAPC16_uc021psn.1_Non-coding_Transcript|ANAPC16_uc001jsv.3_Missense_Mutation_p.P107S|ANAPC16_uc021psp.1_Missense_Mutation_p.P107S|ANAPC16_uc021psq.1_Non-coding_Transcript|ANAPC16_uc021psr.1_Non-coding_Transcript|ANAPC16_uc021pss.1_Missense_Mutation_p.P82S	NM_001242546	NP_001229475	Q96DE5	APC16_HUMAN	Homo sapiens anaphase promoting complex subunit 16 (ANAPC16), transcript variant 1, mRNA.	107					cell division|mitosis|protein ubiquitination	anaphase-promoting complex|cytoplasm				large_intestine(1)|ovary(1)	2						GGGATTCACCCCCTCTTCAGG	0.542000														25			21		0	0	0.000132079	0	0
ADAM30	11085	broad.mit.edu	37	1	120438355	120438356	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:120438355_120438356GG>TT	uc001eij.3	-	0	792_793	c.604_605CC>AA	c.(604-606)cca>AAa	p.P202K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	202					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.H201H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAAGTACTTTGGGTGTTTATAG	0.406000														650			12		0	0	6.4e-05	0	0
P4HB	5034	broad.mit.edu	37	17	79804941	79804942	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:79804941_79804942GG>TT	uc002kbn.1	-	5	933_934	c.736_737CC>AA	c.(736-738)ccg>AAg	p.P246K	P4HB_uc002kbl.1_Intron|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	246					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.P246Q(2)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AAAAATCTTCGGGGCTGTCTGT	0.465000														622			17		0	0	6.4e-05	0	0
CDH7	1005	broad.mit.edu	37	18	63511244	63511245	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:63511244_63511245GG>AA	uc002lkb.3	+	6	1604_1605	c.1178_1179GG>AA	c.(1177-1179)ggg>gAA	p.G393E	CDH7_uc002ljz.3_Missense_Mutation_p.G393E|CDH7_uc002lka.3_Missense_Mutation_p.G393E	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	393	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G393G(3)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACCCAGGTTGGGAATATCATTG	0.450000														43			20		0	0	6.4e-05	0	0
OR2B2	81697	broad.mit.edu	37	6	27879792	27879792	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:27879792G>A	uc011dkw.2	-	0	383	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCAGGAAAATGAAAAGCTGGG	0.448000														28			59		0	0	0.000781405	0	0
PDE9A	5152	broad.mit.edu	37	21	44108041	44108041	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr21:44108041C>T	uc002zbm.3	+	2	218	c.155C>T	c.(154-156)tCc>tTc	p.S52F	PDE9A_uc002zbn.3_Intron|PDE9A_uc002zbo.3_Missense_Mutation_p.S52F|PDE9A_uc002zbp.3_Intron|PDE9A_uc002zbq.3_Silent_p.L28L|PDE9A_uc002zbs.3_Intron|PDE9A_uc002zbr.3_Intron|PDE9A_uc002zbt.3_Intron|PDE9A_uc002zbu.3_Missense_Mutation_p.S11F|PDE9A_uc002zbv.3_Intron|PDE9A_uc002zbw.3_Intron|PDE9A_uc002zbx.3_Missense_Mutation_p.S52F|PDE9A_uc002zby.3_Intron|PDE9A_uc002zbz.3_5'UTR|PDE9A_uc002zca.3_Missense_Mutation_p.S11F|PDE9A_uc002zcb.3_Intron|PDE9A_uc002zcc.3_Missense_Mutation_p.S11F|PDE9A_uc002zcd.3_Intron|PDE9A_uc002zce.3_Intron|PDE9A_uc002zcf.3_5'UTR|PDE9A_uc002zcg.3_Intron	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	52					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						ACGACCATCTCCCTGCTGACC	0.602000														27			19		0	0	0.000229342	0	0
EML1	2009	broad.mit.edu	37	14	100406371	100406371	+	Silent	SNP	C	T	T	rs113496186		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:100406371C>T	uc001ygr.3	+	22	2496	c.2427C>T	c.(2425-2427)gtC>gtT	p.V809V	EML1_uc010tww.2_Silent_p.V778V|EML1_uc001ygs.3_Silent_p.V790V	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	790						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCACCAATGTCGATTTCCTCT	0.557000														27			28		0	0	0.000878237	0	0
BAG6	7917	broad.mit.edu	37	6	31616518	31616519	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31616518_31616519CG>AT	uc003nvg.4	-	5	801_802	c.487_488CG>AT	c.(487-489)cgg>ATg	p.R163M	BAG6_uc003nvf.4_Missense_Mutation_p.R163M|BAG6_uc003nvi.4_Missense_Mutation_p.R163M|BAG6_uc003nvh.4_Missense_Mutation_p.R163M|BAG6_uc011dnw.2_Missense_Mutation_p.R163M|BAG6_uc011dnx.2_Missense_Mutation_p.R163M	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	163					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CAGCCGTACCCGGGGCTCACTC	0.525000														523			11		0	0	6.4e-05	0	0
C1orf173	127254	broad.mit.edu	37	1	75038009	75038009	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:75038009C>T	uc001dgg.3	-	13	3604	c.3385G>A	c.(3385-3387)Gaa>Aaa	p.E1129K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1129	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACAGGTGCTTCGTTCTCAGCA	0.468000														40			26		0	0	0.000586117	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502344	220502344	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:220502344G>A	uc002vmo.4	+	16	2867	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	SLC4A3_uc002vmp.4_Silent_p.E859E|SLC4A3_uc010fwm.3_Silent_p.E409E|SLC4A3_uc010fwn.1_Silent_p.E368E	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	859	Membrane (anion exchange).			SPR -> GPE (in Ref. 2; AAB05850).	bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCCCTGAGGGGGCCCTGG	0.642000														20			9		0	0	0.000151284	0	0
TRPC5	7224	broad.mit.edu	37	X	111156002	111156002	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:111156002G>A	uc004epl.1	-	2	1336	c.417C>T	c.(415-417)ttC>ttT	p.F139F	TRPC5_uc004epm.1_Silent_p.F139F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	139					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTCCGGTGTGAATTCAGAGA	0.488000														6			41		0	0	0.000589545	0	0
OR51E2	81285	broad.mit.edu	37	11	4703603	4703603	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:4703603G>A	uc001lzk.2	-	1	583	c.339C>T	c.(337-339)atC>atT	p.I113I	OR51E2_uc021qcr.1_Silent_p.I113I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCCAGCAGGATGGTGGATT	0.517000														20			22		0	0	0.000175454	0	0
DAB1	1600	broad.mit.edu	37	1	57537964	57537964	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:57537964C>T	uc009vzx.1	-	4	750	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	DAB1_uc001cyt.1_Missense_Mutation_p.A144T|DAB1_uc001cyq.1_Missense_Mutation_p.A144T|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.A144T|DAB1_uc001cys.1_Missense_Mutation_p.A144T	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	144	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACCGCCTGGGCTGTTTTTATG	0.493000														27			23		0	0	0.000586117	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079874	70079874	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:70079874G>A	uc003heh.3	-	0	576	c.567C>T	c.(565-567)ttC>ttT	p.F189F	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	189					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGAAGGAGGGAAAATCAGTC	0.403000														3			9		0	0	0.000442599	0	0
CALR3	125972	broad.mit.edu	37	19	16590041	16590041	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:16590041C>T	uc002ned.2	-	8	1119	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	352	C-domain.|Glu/Lys-rich.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						GGGCCTTCTTCATTTCCTCCT	0.483000														60			45		0	0	0.000781405	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186672	50186672	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:50186672C>T	uc009zlk.2	-	10	3640	c.3438G>A	c.(3436-3438)aaG>aaA	p.K1146K	NCKAP5L_uc001rvc.3_Silent_p.K350K|NCKAP5L_uc001rvb.2_Silent_p.K739K	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	1142	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GTGGCTTGGTCTTAGGAAGAT	0.657000														8			12		0	0	6.40141e-05	0	0
CLINT1	9685	broad.mit.edu	37	5	157240099	157240099	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:157240099G>A	uc003lxj.2	-	4	694	c.489C>T	c.(487-489)tcC>tcT	p.S163S	CLINT1_uc003lxi.2_Silent_p.S145S|CLINT1_uc011ddv.2_Silent_p.S163S	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	163					endocytosis|post-Golgi vesicle-mediated transport	Golgi apparatus|clathrin-coated vesicle|cytosol|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGTCTGAGGAAACCCCAA	0.413000														50			38		0	0	0.000437636	0	0
ADAM18	8749	broad.mit.edu	37	8	39468132	39468132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:39468132G>A	uc003xni.3	+	5	484	c.429G>A	c.(427-429)atG>atA	p.M143I	ADAM18_uc003xnh.3_Missense_Mutation_p.M143I|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.M143I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	143					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTATCAAATGAAAAATAATG	0.333000														26			19		0	0	0.000958276	0	0
OSBPL10	114884	broad.mit.edu	37	3	32022478	32022478	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:32022478G>A	uc021wuu.1	-	0	865	c.194C>T	c.(193-195)cCg>cTg	p.P65L	OSBPL10_uc011axf.2_Missense_Mutation_p.P65L|ZNF860_uc011axg.2_5'Flank	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	65					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TCCCCCGGACGGGCTAGCGGC	0.756000														10			4		0	0	0.000602214	0	0
FLNB	2317	broad.mit.edu	37	3	58135878	58135878	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:58135878G>C	uc003djj.2	+	37	6456	c.6291G>C	c.(6289-6291)gaG>gaC	p.E2097D	FLNB_uc010hne.2_Missense_Mutation_p.E2128D|FLNB_uc003djk.2_Missense_Mutation_p.E2086D|FLNB_uc010hnf.2_Missense_Mutation_p.E2073D|FLNB_uc003djl.2_Missense_Mutation_p.E1917D|FLNB_uc003djm.2_Missense_Mutation_p.E1904D|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2097	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGTCAAAGAGAGCATCACCC	0.597000														111			52		0	0	0.000781405	0	0
QSER1	79832	broad.mit.edu	37	11	32954769	32954769	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:32954769C>T	uc001mty.3	+	3	1845	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S	QSER1_uc001mtz.1_Silent_p.S287S|QSER1_uc001mua.3_Silent_p.S31S	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	526	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTTTGCATCCTCTACTCATT	0.403000														41			34		0	0	0.000191422	0	0
OASL	8638	broad.mit.edu	37	12	121471346	121471347	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:121471346_121471347GG>TT	uc001tzj.1	-	1	404_405	c.398_399CC>AA	c.(397-399)ccc>cAA	p.P133Q	OASL_uc001tzk.1_Missense_Mutation_p.P133Q	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	133					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAGAGCATCGGGGACTCTCTG	0.589000														339			7		0	0	6.4e-05	0	0
OVCH1	341350	broad.mit.edu	37	12	29596314	29596314	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:29596314C>T	uc001rix.1	-	24	3137	c.3137G>A	c.(3136-3138)gGa>gAa	p.G1046E		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	1046					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTTCCTGGTCCAAATCCTTC	0.348000														24			32		0	0	0.000692331	0	0
ANK3	288	broad.mit.edu	37	10	61846624	61846624	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:61846624C>T	uc001jky.3	-	29	3897	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K	ANK3_uc001jkw.3_Missense_Mutation_p.E321K|ANK3_uc009xpa.3_Missense_Mutation_p.E321K|ANK3_uc001jkx.3_Missense_Mutation_p.E365K|ANK3_uc010qih.2_Missense_Mutation_p.E1188K|ANK3_uc001jkz.4_Missense_Mutation_p.E1181K|ANK3_uc001jla.1_Missense_Mutation_p.E253K|ANK3_uc001jlb.1_Missense_Mutation_p.E705K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1187					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCACAATTTCATCTGGAACA	0.358000														26			7		0	0	8.12818e-05	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64592734	64592735	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:64592734_64592735CC>AA	uc003dmg.3	-	22	3407_3408	c.3375_3376GG>TT	c.(3373-3378)caggga>caTTga	p.1125_1126QG>H*	ADAMTS9_uc011bfo.2_Nonsense_Mutation_p.1097_1098QG>H*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.954_955QG>H*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.36_37QG>H*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1125	TSP type-1 6.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGCTGGTATCCCTGTCCACAAG	0.426000														469			10		0	0	6.4e-05	0	0
CYP1A1	1543	broad.mit.edu	37	15	75012979	75012980	+	Missense_Mutation	DNP	GG	AT	AT	rs41279188	byFrequency	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:75012979_75012980GG>AT	uc002ayp.4	-	6	1511_1512	c.1389_1390CC>AT	c.(1387-1392)gcccgc>gcATgc	p.R464C	CYP1A1_uc010bjy.3_Missense_Mutation_p.R435C|CYP1A1_uc010bju.3_Missense_Mutation_p.R200C|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.R200C|CYP1A1_uc002ayq.4_Missense_Mutation_p.R464C	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	464			R -> C (in allele CYP1A1*9).|R -> S (in allele CYP1A1*5; dbSNP:rs41279188).		cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ACCTCCCAGCGGGCAATGGTCT	0.540000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					33			45		0	0	6.4e-05	0	0
S100A7A	338324	broad.mit.edu	37	1	153391753	153391753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:153391753G>A	uc001fbt.1	+	2	331	c.274G>A	c.(274-276)Gga>Aga	p.G92R		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	92						cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGAGCCATGGAGCGGCGCC	0.532000														29			19		0	0	0.000132079	0	0
UPF2	26019	broad.mit.edu	37	10	12077265	12077266	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:12077265_12077266GG>TT	uc001ila.3	-	0	631_632	c.157_158CC>AA	c.(157-159)cct>AAt	p.P53N	UPF2_uc001ilb.3_Missense_Mutation_p.P53N|UPF2_uc001ilc.3_Missense_Mutation_p.P53N|UPF2_uc009xiz.2_Missense_Mutation_p.P53N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	53	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTGTCTTCAGGGGCCTTGCTG	0.460000														684			13		0	0	6.4e-05	0	0
KCND3	3752	broad.mit.edu	37	1	112524287	112524287	+	Silent	SNP	G	A	A	rs150934088		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:112524287G>A	uc001ebu.1	-	1	1542	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	KCND3_uc001ebv.1_Silent_p.I354I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	354						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ACGAGGCAGGGATGCTTGTGA	0.542000														16			14		0	0	0.000219431	0	0
CDKN3	1033	broad.mit.edu	37	14	54884627	54884627	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:54884627C>T	uc001xap.3	+	6	624	c.510C>T	c.(508-510)agC>agT	p.S170S	CDKN3_uc001xar.3_Silent_p.S130S|CDKN3_uc010aoj.2_Non-coding_Transcript	NM_005192	NP_005183	Q16667	CDKN3_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 3 (CDKN3), transcript variant 1, mRNA.	170					G1/S transition of mitotic cell cycle|cell cycle arrest|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						CCATAGACAGCCTGCGAGACC	0.453000														4			8		0	0	0.000157383	0	0
C1orf127	148345	broad.mit.edu	37	1	11008296	11008296	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:11008296G>A	uc010oao.2	-	11	1896	c.1896C>T	c.(1894-1896)ctC>ctT	p.L632L	C1orf127_uc001ars.2_Silent_p.L467L|C1orf127_uc001arr.2_Silent_p.L475L	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	483										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTCCCTGGGGAGACCAGGCC	0.647000														57			31		0	0	0.000491102	0	0
KRT14	3861	broad.mit.edu	37	17	39743019	39743019	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:39743019C>T	uc002hxf.2	-	0	129	c.68G>A	c.(67-69)gGc>gAc	p.G23D	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	23	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				gcccccgatgccgcccccgat	0.711000														3			7		0	0	8.12818e-05	0	0
RGPD3	653489	broad.mit.edu	37	2	107041150	107041150	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:107041150C>A	uc010ywi.1	-	19	3330	c.3273G>T	c.(3271-3273)gaG>gaT	p.E1091D		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1091	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGCCATTGACCTCGTTTTTGA	0.398000														157			133		1.30425e-93	1.90381e-92	0.000781405	1	0
CBX8	57332	broad.mit.edu	37	17	77769030	77769030	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:77769030G>A	uc002jxd.2	-	4	692	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	192					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGTCCCCCGGTGAGCTGGGC	0.667000														30			11		0	0	0.00010058	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136335	103136335	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:103136335G>A	uc002tbz.4	+	8	2196	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	580					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGATACAAGGAATCAAAAGA	0.453000														22			17		0	0	0.000175454	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499545	34499545	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:34499545C>T	uc003ojo.3	+	8	1464	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D	PACSIN1_uc003ojp.3_Silent_p.D402D	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	402	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGAGCAGGACGAGCTCAGCT	0.662000														137			38		0	0	0.000374591	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640561	99640561	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:99640561G>A	uc001tge.2	-	12	2255	c.1838C>T	c.(1837-1839)tCt>tTt	p.S613F	ANKS1B_uc001tgf.2_Missense_Mutation_p.S193F|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.S579F	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	613						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACAGGCTGGAGAGGATCCATG	0.468000														84			64		0	0	0.000781405	0	0
COQ7	10229	broad.mit.edu	37	16	19083402	19083402	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:19083402C>T	uc002dfr.3	+	1	296	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	COQ7_uc021tee.1_Missense_Mutation_p.R38W|COQ7_uc002dfs.3_Missense_Mutation_p.R62W	NM_016138	NP_001177912	Q99807	COQ7_HUMAN	Homo sapiens coenzyme Q7 homolog, ubiquinone (yeast) (COQ7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	76	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TGTCCTGGGTCGGACCAGCGT	0.537000											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			34		0	0	0.000814825	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778435	31778436	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31778435_31778436CG>AT	uc003nxh.3	-	1	1497_1498	c.1314_1315CG>AT	c.(1312-1317)cccggg>ccATgg	p.G439W	HSPA1L_uc010jte.3_Missense_Mutation_p.G439W|HSPA1L_uc021yuz.1_Missense_Mutation_p.G439W	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	439					response to unfolded protein		ATP binding	p.P438P(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ATCAGCACCCCGGGTTGGTTGT	0.589000														731			12		0	0	6.4e-05	0	0
DSG4	147409	broad.mit.edu	37	18	28986203	28986203	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:28986203C>T	uc002kwr.2	+	11	1935	c.1800C>T	c.(1798-1800)gcC>gcT	p.A600A	DSG4_uc002kwq.2_Silent_p.A600A	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	600					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTCTGGTGCCGCGGGCATCT	0.502000														62			32		0	0	0.000409698	0	0
NBEAL1	65065	broad.mit.edu	37	2	203948015	203948016	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:203948015_203948016GG>TT	uc002uzt.3	+	8	1091_1092	c.758_759GG>TT	c.(757-759)tgg>tTT	p.W253F		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	253							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTGATTCCTGGGAGGATGGAG	0.431000														372			12		0	0	6.4e-05	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589855	11589855	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:11589855C>T	uc001ash.4	+	14	3079	c.2941C>T	c.(2941-2943)Cgt>Tgt	p.R981C		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	981					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCCAAGGCCCGTCTCTCAGC	0.647000														22			22		0	0	0.000295444	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100288	39100288	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:39100288G>A	uc002oix.1	-	12	1062	c.954C>T	c.(952-954)atC>atT	p.I318I	MAP4K1_uc002oiy.1_Silent_p.I318I|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	318					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGTGGATCTGATCCGCCGAG	0.607000														21			7		0	0	0.000274275	0	0
OR4C15	81309	broad.mit.edu	37	11	55322479	55322479	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:55322479G>A	uc010rig.2	+	0	697	c.697G>A	c.(697-699)Gac>Aac	p.D233N		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTTATGTGTGACTTGTACCC	0.458000										HNSCC(20;0.049)				8			4		0	0	0.00024832	0	0
HPS4	89781	broad.mit.edu	37	22	26866780	26866780	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:26866780C>T	uc003acl.3	-	7	1161	c.502_splice	c.e7-1	p.V168_splice	HPS4_uc003aci.3_Splice_Site_p.V163_splice|HPS4_uc003acj.3_Silent_p.Q13Q|HPS4_uc003ack.3_Splice_Site|HPS4_uc003acn.3_Silent_p.Q13Q|HPS4_uc010gvd.1_Splice_Site_p.V168_splice|HPS4_uc003ach.3_Splice_Site	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	168				V -> A (in Ref. 6).	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGGGCTCCACCTGTGCAGGGC	0.567000									Hermansky-Pudlak syndrome					21			13		0	0	0.000151284	0	0
INTS8	55656	broad.mit.edu	37	8	95844400	95844400	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:95844400C>A	uc003yhb.3	+	5	877	c.751C>A	c.(751-753)Cag>Aag	p.Q251K	INTS8_uc003yha.1_Missense_Mutation_p.Q251K|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.Q78K	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	251					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AATGCAGTGCCAGGTATTCAT	0.353000														193			8		0.000157383	0.00224144	0.000157383	1	0
IL22RA1	58985	broad.mit.edu	37	1	24447457	24447457	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:24447457G>A	uc001biq.2	-	6	1766	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	IL22RA1_uc010oeg.1_Silent_p.S453S|IL22RA1_uc009vrb.2_Silent_p.S385S|IL22RA1_uc010oeh.2_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	521						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGTCCGAGGGGGAACATGGAC	0.627000														27			16		0	0	0.000422831	0	0
CANT1	124583	broad.mit.edu	37	17	76993169	76993169	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:76993169G>A	uc002jwj.3	-	1	1031	c.536C>T	c.(535-537)tCc>tTc	p.S179F	CANT1_uc002jwn.3_Missense_Mutation_p.S179F|CANT1_uc002jwk.3_Missense_Mutation_p.S179F|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	179					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	p.S179F(2)	CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GTCATCCACGGAGTAGAGTTT	0.587000			T	ETV4	prostate									71			99		0	0	0.000781405	0	0
HMCN1	83872	broad.mit.edu	37	1	185959444	185959445	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:185959444_185959445CC>AA	uc001grq.1	+	21	3475_3476	c.3246_3247CC>AA	c.(3244-3249)tcccag>tcAAag	p.Q1083K	HMCN1_uc001grr.1_Missense_Mutation_p.Q424K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1083	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGGACTGTCCCAGGATAAGCC	0.426000														259			9		0	0	6.4e-05	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907672	164907672	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:164907672G>A	uc003fej.4	-	1	1391	c.947C>T	c.(946-948)tCt>tTt	p.S316F	SLITRK3_uc003fek.3_Missense_Mutation_p.S316F|SLITRK3_uc021xgy.1_Missense_Mutation_p.S316F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	316						integral to membrane		p.S316S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAAATGAACAGAGGATAGCAT	0.468000										HNSCC(40;0.11)				78			60		0	0	0.000781405	0	0
C17orf47	284083	broad.mit.edu	37	17	56619994	56619994	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:56619994G>A	uc002iwq.2	-	0	1740	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	518										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACCCAGGAAGAAAGCAGTAA	0.527000														134			67		0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38834374	38834374	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:38834374G>A	uc021yzh.1	+	45	6615	c.6506G>A	c.(6505-6507)gGa>gAa	p.G2169E	DNAH8_uc003ooe.2_Missense_Mutation_p.G1952E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAGAACCCTGGATATGCTGGG	0.318000														58			21		0	0	0.000175454	0	0
DISP2	85455	broad.mit.edu	37	15	40659729	40659729	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:40659729G>A	uc001zlk.1	+	7	1505	c.1416G>A	c.(1414-1416)atG>atA	p.M472I		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	472	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCACTGGCATGGACCTGGGCC	0.622000														52			48		0	0	0.000781405	0	0
NARS2	79731	broad.mit.edu	37	11	78147746	78147746	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:78147746G>A	uc001ozi.3	-	13	1780	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	NARS2_uc010rsq.2_Silent_p.F241F	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	468					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GAAACCTTGGGAAAGGGATAA	0.458000														131			108		0	0	0.000781405	0	0
KLF11	8462	broad.mit.edu	37	2	10188397	10188398	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:10188397_10188398GG>TT	uc002raf.1	+	2	1095_1096	c.933_934GG>TT	c.(931-936)gtgggg>gtTTgg	p.G312W	KLF11_uc021vdq.1_Missense_Mutation_p.G295W|KLF11_uc010yjc.2_Missense_Mutation_p.G295W	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	312					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V311V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AGTTGTCTGTGGGGACTGTGAG	0.579000											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		485			13		0	0	6.4e-05	0	0
C1orf94	84970	broad.mit.edu	37	1	34662999	34662999	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:34662999C>T	uc001bxt.3	+	1	1332	c.494C>T	c.(493-495)cCt>cTt	p.P165L	C1orf94_uc001bxs.4_5'UTR	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	104							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTTGCCCCTCCTCTAGTGGCA	0.607000														12			10		0	0	0.000673444	0	0
COPG2	26958	broad.mit.edu	37	7	130147529	130147529	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:130147529C>T	uc003vqh.1	-	11	1063	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	795					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					GTCTCACCTTCAAGGGTTTTG	0.398000														252			24		0	0	0.000295444	0	0
CEP41	95681	broad.mit.edu	37	7	130039942	130039943	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:130039942_130039943GG>TT	uc003vpz.3	-	9	957_958	c.910_911CC>AA	c.(910-912)cca>AAa	p.P304K	CEP41_uc003vpy.3_Missense_Mutation_p.P66K|CEP41_uc010lmf.3_Missense_Mutation_p.P101K|CEP41_uc003vqa.3_Intron|CEP41_uc011kpg.2_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	304					G2/M transition of mitotic cell cycle	centrosome|cytosol											TAAGTCTTCTGGGGTAAATCTC	0.475000														658			14		0	0	6.4e-05	0	0
DDX52	11056	broad.mit.edu	37	17	35992205	35992205	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:35992205G>A	uc002hoi.2	-	3	585	c.541C>T	c.(541-543)Cta>Tta	p.L181L	DDX52_uc002hoh.2_Silent_p.L73L|DDX52_uc002hoj.1_Silent_p.L89L	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	181						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CCTGCATCTAGAATGTTCTGA	0.418000														51			89		0	0	0.000781405	0	0
RDBP	7936	broad.mit.edu	37	6	31922487	31922488	+	Missense_Mutation	DNP	CG	AT	AT	rs139345377		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31922487_31922488CG>AT	uc003nyk.3	-	6	790_791	c.586_587CG>AT	c.(586-588)cgg>ATg	p.R196M	RDBP_uc011dot.2_Missense_Mutation_p.R166M|RDBP_uc021yvb.1_Missense_Mutation_p.R191M	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	196	30 X 2 AA approximate tandem repeats of R-[DSNE].				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						gtctctgtcccggttcctctcA	0.644000														541			10		0	0	6.4e-05	0	0
F8	2157	broad.mit.edu	37	X	154088762	154088762	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:154088762G>A	uc004fmt.3	-	24	7016	c.6845C>T	c.(6844-6846)tCc>tTc	p.S2282F	F8_uc004fms.3_Missense_Mutation_p.S147F	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2282	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S2282S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGACTGCTGGAGATGAGGAA	0.418000														14			67		0	0	0.000781405	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366002	47366002	+	RNA	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:47366002C>T	uc001cqo.1	-	0		c.146G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TCCATCTCCTCCTCTGGTACA	0.547000														12			5		0	0	0.000602214	0	0
NEFL	4747	broad.mit.edu	37	8	24811711	24811711	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:24811711C>T	uc003xee.3	-	1	1255	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	385	Coil 2B.|Epitope; recognized by IF-specific monoclonal antibody.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCTGCAATCTCAATATCCAAA	0.388000														174			118		0	0	0.000781405	0	0
PRLR	5618	broad.mit.edu	37	5	35065415	35065415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:35065415C>T	uc003jjm.3	-	9	2204	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.V448M|PRLR_uc021xxl.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	549					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.V549V(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACCCCGGACACCTTGGCATAC	0.498000														32			30		0	0	0.000184323	0	0
INHBB	3625	broad.mit.edu	37	2	121106908	121106908	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:121106908A>T	uc002tmn.2	+	1	728	c.682A>T	c.(682-684)Acc>Tcc	p.T228S		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	228					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CGGCTGGCATACCTTCCCACT	0.632000														80			57		0	0	0.000781405	0	0
TSGA13	114960	broad.mit.edu	37	7	130357671	130357672	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:130357671_130357672GG>TT	uc003vqi.3	-	5	889_890	c.432_433CC>AA	c.(430-435)ccccgc>ccAAgc	p.R145S	TSGA13_uc003vqj.3_Missense_Mutation_p.R145S	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	145										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGAGGCATGCGGGGCAGCCAGA	0.470000														672			19		0	0	6.4e-05	0	0
MYO18B	84700	broad.mit.edu	37	22	26423017	26423017	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:26423017G>A	uc003abz.1	+	42	7327	c.7077G>A	c.(7075-7077)ccG>ccA	p.P2359P	MYO18B_uc003aca.1_Silent_p.P2240P|MYO18B_uc010guy.1_Silent_p.P2241P|MYO18B_uc010guz.1_Silent_p.P2239P|MYO18B_uc011aka.1_Silent_p.P1513P|MYO18B_uc011akb.1_Silent_p.P1872P|MYO18B_uc010gva.1_Silent_p.P342P|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2359						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AATCCAGACCGAGCATGGGGA	0.567000														59			27		0	0	0.000279167	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016407	58016408	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:58016407_58016408GG>TT	uc001spe.3	+	4	1085_1086	c.774_775GG>TT	c.(772-777)gtgggg>gtTTgg	p.G259W	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	259						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCAGATAGTGGGGCTGTTGCC	0.515000											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		228			10		0	0	6.4e-05	0	0
FBXO22	26263	broad.mit.edu	37	15	76225175	76225175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:76225175C>T	uc002bbk.3	+	6	1049	c.944C>T	c.(943-945)cCa>cTa	p.P315L	FBXO22_uc002bbl.3_Missense_Mutation_p.P211L|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	315					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCCAACATTCCAGAGCATAAC	0.517000														28			22		0	0	0.000175454	0	0
MYT1L	23040	broad.mit.edu	37	2	1893184	1893184	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:1893184C>T	uc002qxe.3	-	15	3176	c.2349G>A	c.(2347-2349)cgG>cgA	p.R783R	MYT1L_uc002qxd.3_Silent_p.R781R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	783					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCAGCTGTCCCGCGGCCTCT	0.612000														36			27		0	0	0.000279167	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028416	59028416	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:59028416C>G	uc002qtd.3	-	1	917	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	ZBTB45_uc002qtf.3_Missense_Mutation_p.E209Q	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCGTCATCCTCGTCACCTCGG	0.672000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		133			95		0	0	0.000781405	0	0
OR1A2	26189	broad.mit.edu	37	17	3101329	3101329	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:3101329G>A	uc002fvd.1	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGGCAACCAGGAAGTAGCCAA	0.478000														4			40		0	0	0.000589545	0	0
HCN1	348980	broad.mit.edu	37	5	45645578	45645578	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:45645578G>A	uc003jok.3	-	1	583	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	186						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTCCAATAGGAAAACTGTAT	0.368000														21			16		0	0	0.000308642	0	0
TRRAP	8295	broad.mit.edu	37	7	98554098	98554098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:98554098C>T	uc003upp.3	+	41	6361	c.6152C>T	c.(6151-6153)tCc>tTc	p.S2051F	TRRAP_uc011kis.2_Missense_Mutation_p.S2033F|TRRAP_uc003upr.3_Missense_Mutation_p.S1750F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2051	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGGCCTGTCCGTGGATTCT	0.517000														13			30		0	0	0.000339439	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281479	145281480	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:145281479_145281480GG>TT	uc001emn.4	+	3	779_780	c.409_410GG>TT	c.(409-411)ggg>TTg	p.G137L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.G137L|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G137L|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.	137	EGF-like 4.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.T136T(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						AGGCTTCACAGGGCAGAAGTGT	0.554000														893			15		0	0	6.4e-05	0	0
BAG6	7917	broad.mit.edu	37	6	31612966	31612967	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31612966_31612967CC>AA	uc003nvg.4	-	9	1457_1458	c.1143_1144GG>TT	c.(1141-1146)gtggga>gtTTga	p.G382*	BAG6_uc003nvf.4_Nonsense_Mutation_p.G376*|BAG6_uc003nvi.4_Nonsense_Mutation_p.G376*|BAG6_uc003nvh.4_Nonsense_Mutation_p.G376*|BAG6_uc011dnw.2_Nonsense_Mutation_p.G376*|BAG6_uc011dnx.2_Nonsense_Mutation_p.G376*	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	382	4 X 29 AA approximate repeats.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ACAGTGGTTCCCACATTGATCT	0.525000														591			14		0	0	6.4e-05	0	0
IL21	59067	broad.mit.edu	37	4	123542159	123542159	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:123542159G>A	uc003ies.2	-	0	53	c.8C>T	c.(7-9)tCc>tTc	p.S3F	BC045668_uc003iet.3_Non-coding_Transcript|IL21_uc010int.3_Missense_Mutation_p.S3F	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	80					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						GCCAGGACTGGATCTCATAAG	0.458000														22			23		0	0	0.000375601	0	0
USP43	124739	broad.mit.edu	37	17	9632019	9632019	+	Silent	SNP	C	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:9632019C>G	uc010cod.3	+	14	3084	c.3084C>G	c.(3082-3084)ggC>ggG	p.G1028G	USP43_uc002gma.4_Silent_p.G717G|USP43_uc010vva.2_Silent_p.G1023G|USP43_uc010coe.3_Silent_p.G825G|USP43_uc002gmc.4_Silent_p.G540G	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1028					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGGTGAGTGGCGGGCTGAGCC	0.672000														0			9		0	0	0.000442599	0	0
FKBPL	63943	broad.mit.edu	37	6	32097440	32097441	+	Silent	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32097440_32097441GG>TT	uc003nzr.3	-	1	387_388	c.117_118CC>AA	c.(115-120)ccccga>ccAAga	p.39_40PR>PR	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Silent_p.39_40PR>PR	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	39					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GGAGGGTCTCGGGGCTGCTGCC	0.485000														872			16		0	0	6.4e-05	0	0
PHRF1	57661	broad.mit.edu	37	11	609395	609396	+	Silent	DNP	CC	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:609395_609396CC>TT	uc001lqe.3	+	13	4070_4071	c.3939_3940CC>TT	c.(3937-3942)agcctg>agTTtg	p.1313_1314SL>SL	PHRF1_uc010qwc.2_Silent_p.1312_1313SL>SL|PHRF1_uc010qwd.2_Silent_p.1311_1312SL>SL|PHRF1_uc010qwe.2_Silent_p.1309_1310SL>SL|PHRF1_uc009ybz.1_Silent_p.1103_1104SL>SL|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1313							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCCAGCCAGCCTGGCCGTGGC	0.629000														12			6		0	0	6.4e-05	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187694550	187694550	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:187694550C>T	uc002upu.1	-	7	1039	c.999G>A	c.(997-999)aaG>aaA	p.K333K		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	333					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GCTTACTATTCTTAGTAATCA	0.388000														11			9		0	0	0.000442599	0	0
CTSB	1508	broad.mit.edu	37	8	11710136	11710136	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:11710136C>T	uc003wuq.3	-	2	357	c.195G>A	c.(193-195)ggG>ggA	p.G65G	CTSB_uc010lsc.3_5'UTR|CTSB_uc011kxl.2_Intron|CTSB_uc003wum.3_Silent_p.G65G|CTSB_uc003wun.3_Silent_p.G65G|CTSB_uc003wuo.3_Silent_p.G65G|CTSB_uc003wup.3_Silent_p.G65G|CTSB_uc003wuu.3_5'Flank	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	65					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GTGGCTTGGGCCCACCCAGGA	0.587000														20			11		0	0	0.00010058	0	0
UNC119B	84747	broad.mit.edu	37	12	121154737	121154738	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:121154737_121154738CG>AT	uc001tyz.3	+	3	982_983	c.535_536CG>AT	c.(535-537)cgg>ATg	p.R179M		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	179										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCACTATTTCCGGGAACACTTG	0.460000														436			7		0	0	6.4e-05	0	0
SAMD9	54809	broad.mit.edu	37	7	92732356	92732356	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:92732356C>T	uc003umf.3	-	2	3325	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	SAMD9_uc003umg.3_Missense_Mutation_p.D1019N|SAMD9_uc022ahg.1_Missense_Mutation_p.D1019N	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1019						cytoplasm		p.D1019N(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATACCAGTATCGAAGAACAAA	0.368000														17			24		0	0	0.00047179	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38148081	38148082	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:38148081_38148082CC>AA	uc003xli.3	-	16	3547_3548	c.3029_3030GG>TT	c.(3028-3030)tgg>tTT	p.W1010F	WHSC1L1_uc011lbm.2_Missense_Mutation_p.W1010F|WHSC1L1_uc010lwe.3_Missense_Mutation_p.W961F	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1010	PWWP 2.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTGGTGTACCCAGTAGTAGTC	0.475000			T	NUP98	AML									138			7		0	0	6.4e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223178204	223178205	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:223178204_223178205CC>AA	uc001hnu.2	+	9	3791_3792	c.3465_3466CC>AA	c.(3463-3468)tcccat>tcAAat	p.H1156N		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1156					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTGCCTTTTCCCATGCCTTGTC	0.475000														570			11		0	0	6.4e-05	0	0
PRDM9	56979	broad.mit.edu	37	5	23527798	23527798	+	Silent	SNP	G	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:23527798G>T	uc003jgo.3	+	10	2783	c.2601G>T	c.(2599-2601)cgG>cgT	p.R867R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	867					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						AGTGTGGGCGGGGCTTTAGCG	0.557000										HNSCC(3;0.000094)				37			16		4.14922e-12	5.98202e-11	0.000422831	1	0
OPRD1	4985	broad.mit.edu	37	1	29189617	29189617	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:29189617A>G	uc001brf.1	+	2	1183	c.941A>G	c.(940-942)aAc>aGc	p.N314S		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	314					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	AGCAGCCTCAACCCCGTGCTC	0.672000														6			4		0	0	0.00024832	0	0
CLCN1	1180	broad.mit.edu	37	7	143028681	143028681	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:143028681C>A	uc003wcr.1	+	9	1189	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	CLCN1_uc011ktc.1_Missense_Mutation_p.L30M	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	368					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L368V(2)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTGTGTATCTGCATCGCCA	0.473000														18			99		2.05131e-73	2.99014e-72	0.000781405	1	0
CORO1C	23603	broad.mit.edu	37	12	109048113	109048114	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:109048113_109048114GG>TT	uc009zva.3	-	6	1031_1032	c.982_983CC>AA	c.(982-984)cct>AAt	p.P328N	CORO1C_uc001tnj.3_Missense_Mutation_p.P275N|CORO1C_uc010sxf.2_Missense_Mutation_p.P238N	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	275					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GCTGGTGTCAGGGTCATAGAAA	0.371000														213			8		0	0	6.4e-05	0	0
ABCA12	26154	broad.mit.edu	37	2	215919365	215919365	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:215919365T>C	uc002vew.3	-	3	561	c.341A>G	c.(340-342)aAc>aGc	p.N114S	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	114					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N114Y(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTATCCAGGTTGGATGACTT	0.388000														9			21		0	0	0.000295444	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734898	176734898	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:176734898C>T	uc001gkz.3	+	14	5412	c.4248C>T	c.(4246-4248)ctC>ctT	p.L1416L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1416	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCCAGGTCTCATGAAGTGTG	0.527000														48			45		0	0	0.000680045	0	0
YKT6	10652	broad.mit.edu	37	7	44247782	44247782	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:44247782G>A	uc003tkm.3	+	4	601	c.444G>A	c.(442-444)gaG>gaA	p.E148E	YKT6_uc011kbv.2_Silent_p.E148E	NM_006555	NP_006546	O15498	YKT6_HUMAN	Homo sapiens YKT6 v-SNARE homolog (S. cerevisiae) (YKT6), mRNA.	148	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	Golgi membrane|SNARE complex|cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|integral to plasma membrane|mitochondrion	SNAP receptor activity|protein-cysteine S-palmitoleyltransferase activity	p.D147Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						AACTAGATGAGACCAAAATCA	0.502000														20			9		0	0	0.000442599	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160747	12160748	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:12160747_12160748GG>TT	uc001ild.4	+	15	2502	c.2403_splice	c.e15-1	p.K801_splice		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	801					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGTCCAACAGGGTTAAGACCC	0.475000														388			13		0	0	6.4e-05	0	0
ST18	9705	broad.mit.edu	37	8	53084982	53084982	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:53084982C>T	uc003xqz.2	-	4	595	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E112K|ST18_uc011lds.1_Missense_Mutation_p.E52K|ST18_uc003xra.2_Missense_Mutation_p.E147K|ST18_uc003xrb.2_Missense_Mutation_p.E147K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E147K(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTAAATTTTCACTTACAGTC	0.378000														37			34		0	0	0.000191422	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150322208	150322208	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:150322208C>T	uc003lsz.1	-	1	195	c.46G>A	c.(46-48)Gat>Aat	p.D16N	ZNF300P1_uc003ltb.3_Non-coding_Transcript|ZNF300P1_uc003lta.2_Non-coding_Transcript					Homo sapiens zinc finger protein 300 pseudogene 1 (ZNF300P1), non-coding RNA.																		TGGGTGAAATCCACAGCCACA	0.463000														8			5		0	0	0.000157383	0	0
SDPR	8436	broad.mit.edu	37	2	192701226	192701226	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:192701226G>A	uc002utb.3	-	1	1056	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	234						caveola|cytosol	phosphatidylserine binding|protein binding	p.R233T(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTTCAGGCTGGATCTTTTTAT	0.473000														83			77		0	0	0.000781405	0	0
TRIM24	8805	broad.mit.edu	37	7	138239559	138239559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:138239559C>T	uc003vuc.3	+	8	1593	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	TRIM24_uc003vub.3_Missense_Mutation_p.P460S|TRIM24_uc022amn.1_Missense_Mutation_p.P418S	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	460					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATCCAAGTTCCCAACACAGAT	0.498000														99			7		0	0	8.12818e-05	0	0
MUC5B	727897	broad.mit.edu	37	11	1264798	1264798	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:1264798C>T	uc001lta.3	+	30	6747	c.6688C>T	c.(6688-6690)Cct>Tct	p.P2230S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2230	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATCACAGAGCCTTCCACGGT	0.652000														10			12		0	0	0.000958276	0	0
ZNF560	147741	broad.mit.edu	37	19	9577475	9577475	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:9577475G>A	uc002mlp.1	-	9	2358	c.2148C>T	c.(2146-2148)gaC>gaT	p.D716D	ZNF560_uc010dwr.1_Silent_p.D610D	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTTTCCCACAGTCCTTACATT	0.403000														40			25		0	0	0.000720815	0	0
KIAA0240	23506	broad.mit.edu	37	6	42833111	42833112	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:42833111_42833112CG>AT	uc003osn.1	+	12	3318_3319	c.3167_3168CG>AT	c.(3166-3168)ccg>cAT	p.P1056H	KIAA0240_uc011duw.1_Missense_Mutation_p.P1056H|KIAA0240_uc003osp.1_Missense_Mutation_p.P1056H	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	1056										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AAGTTCATCCCGGACCACAGTG	0.500000														263			6		0	0	6.4e-05	0	0
DOK2	9046	broad.mit.edu	37	8	21771103	21771103	+	Missense_Mutation	SNP	C	A	A	rs149394218	byFrequency	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:21771103C>A	uc003wzx.1	-	0	103	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	DOK2_uc003wzy.1_Missense_Mutation_p.G4W|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	4	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TTCACTGCCCCGTCTCCCATC	0.587000														83			6		0.000274275	0.00389042	0.000274275	1	0
MOCS3	27304	broad.mit.edu	37	20	49576218	49576218	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:49576218C>T	uc002xvy.1	+	0	856	c.839C>T	c.(838-840)gCc>gTc	p.A280V	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	280					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CTCTTTGATGCCCTGAGAGGG	0.607000														19			21		0	0	0.000295444	0	0
NEURL	9148	broad.mit.edu	37	10	105331330	105331330	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:105331330C>T	uc001kxh.3	+	2	810	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	NEURL_uc021pxn.1_Missense_Mutation_p.H117Y	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	134	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding	p.H134P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTCCCGCATCCACCCTGACTC	0.662000														9			13		0	0	0.00010058	0	0
MUC4	4585	broad.mit.edu	37	3	195516819	195516819	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:195516819C>T	uc021xjp.1	-	1	1788	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Silent_p.E426E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	549					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ATGTGGTGGGCTCTCCTGGTT	0.562000														70			74		0	0	0.000781405	0	0
SEC61A2	55176	broad.mit.edu	37	10	12203060	12203061	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:12203060_12203061GG>TT	uc001ile.2	+	9	1254_1255	c.1107_1108GG>TT	c.(1105-1110)ttgggg>ttTTgg	p.369_370LG>FW	SEC61A2_uc010qbq.1_Missense_Mutation_p.347_348LG>FW|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Missense_Mutation_p.369_370LG>FW	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	369						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TCTTCATGTTGGGGTCATGTGC	0.421000														604			11		0	0	6.4e-05	0	0
FBXO24	26261	broad.mit.edu	37	7	100192071	100192071	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:100192071G>A	uc011kjz.1	+	5	1041	c.973G>A	c.(973-975)Gtt>Att	p.V325I	FBXO24_uc003uvl.1_Missense_Mutation_p.V273I|FBXO24_uc003uvm.1_Missense_Mutation_p.V287I|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.V275I|LOC100129845_uc022air.1_Intron	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	287						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCCTACACGGTTCAGCTGGC	0.572000														12			24		0	0	0.000878237	0	0
RNF5	6048	broad.mit.edu	37	6	32147669	32147670	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32147669_32147670CC>AA	uc003oaj.4	+	3	415_416	c.288_289CC>AA	c.(286-291)ccccgc>ccAAgc	p.R97S	AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	Homo sapiens ring finger protein 5 (RNF5), mRNA.	97					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						AAACTCCACCCCGCCCCCAGGG	0.525000														856			13		0	0	6.4e-05	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829803	160829803	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:160829803C>T	uc003qti.3	+	3	734	c.707C>T	c.(706-708)tCg>tTg	p.S236L	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	236						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	p.S236*(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ATAGTAGGTTCGAAACAAAGG	0.403000														12			8		0	0	0.000442599	0	0
EPHB4	2050	broad.mit.edu	37	7	100403198	100403198	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:100403198G>A	uc003uwn.1	-	14	3094	c.2603C>T	c.(2602-2604)cCc>cTc	p.P868L	EPHB4_uc003uwm.1_Missense_Mutation_p.P775L|EPHB4_uc010lhj.1_Missense_Mutation_p.P868L	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	868	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACCACCTGGGGGAAGCGGGG	0.662000														75			12		0	0	0.000151284	0	0
NLRP2	55655	broad.mit.edu	37	19	55492998	55492998	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:55492998G>A	uc021vbq.1	+	4	522	c.411G>A	c.(409-411)acG>acA	p.T137T	NLRP2_uc010yfp.2_Silent_p.T114T|NLRP2_uc002qij.3_Silent_p.T137T|NLRP2_uc010esp.3_Intron|NLRP2_uc010esn.3_Silent_p.T113T|NLRP2_uc010eso.3_Silent_p.T134T	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	137					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTACAGAAACGAAAGGAAATG	0.413000														44			37		0	0	0.000319135	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123939	26123939	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:26123939G>A	uc003ngk.4	-	0	216	c.194C>T	c.(193-195)tCt>tTt	p.S65F	HIST1H2BC_uc003ngl.3_Missense_Mutation_p.S65F|HIST1H2AC_uc003ngm.3_5'Flank|HIST1H2AC_uc003ngo.3_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bc (HIST1H2BC), mRNA.	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.S65Y(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GTTAACGAAAGAATTCATGAT	0.562000														190			56		0	0	0.000781405	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097202	202097202	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:202097202A>C	uc001gxj.3	+	1	1027	c.964A>C	c.(964-966)Atc>Ctc	p.I322L		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	322						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CTGCCTGCCCATCCTCTTCAC	0.607000														20			23		0	0	0.000878237	0	0
LOC440563	440563	broad.mit.edu	37	1	13183780	13183780	+	Silent	SNP	A	C	C	rs116484938	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:13183780A>C	uc010obg.2	-	1	336	c.93T>G	c.(91-93)tcT>tcG	p.S31S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	31						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CCTCCACATCAGATTTCTTGA	0.468000														31			4		0	0	0.000602214	0	0
KRT6C	286887	broad.mit.edu	37	12	52865493	52865493	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:52865493C>T	uc001sal.4	-	2	827	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	260	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCTGCTGTGCGCTTGTTGAT	0.453000														66			55		0	0	0.000781405	0	0
KIF19	124602	broad.mit.edu	37	17	72340934	72340934	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:72340934G>A	uc002jkm.4	+	6	755	c.617G>A	c.(616-618)aGg>aAg	p.R206K	KIF19_uc002jkj.2_Missense_Mutation_p.R206K|KIF19_uc002jkk.2_Missense_Mutation_p.R164K|KIF19_uc002jkl.2_Missense_Mutation_p.R164K	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	206	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AACCGGCAGAGGACCCAGGAG	0.667000														67			30		0	0	0.00058488	0	0
TMEM108	66000	broad.mit.edu	37	3	133098855	133098855	+	Silent	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:133098855C>A	uc003epi.3	+	3	570	c.300C>A	c.(298-300)atC>atA	p.I100I	TMEM108_uc003eph.3_Silent_p.I100I|TMEM108_uc003epj.1_Silent_p.I100I|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	100	Pro-rich.					integral to membrane		p.I100M(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCTCCACCATCGCTGCGACAG	0.662000														35			28		2.85442e-18	4.13792e-17	0.000339439	1	0
CNGA1	1259	broad.mit.edu	37	4	47939760	47939760	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:47939760G>A	uc003gxu.3	-	9	1099	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.L251L	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	251			S -> F (in RP49).		response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATCAGTGACAGAACATCAAGT	0.323000														71			47		0	0	0.000781405	0	0
MGAT1	4245	broad.mit.edu	37	5	180219417	180219417	+	Silent	SNP	G	A	A	rs147959494		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:180219417G>A	uc003mmg.4	-	1	1050	c.555C>T	c.(553-555)atC>atT	p.I185I	MGAT1_uc010jlf.3_Silent_p.I185I|MGAT1_uc010jlg.3_Silent_p.I185I|MGAT1_uc003mmh.4_Silent_p.I185I|MGAT1_uc010jlh.3_Silent_p.I185I|MGAT1_uc003mmi.4_Silent_p.I185I|MGAT1_uc021yjn.1_Silent_p.I185I	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT1), transcript variant 2, mRNA.	185					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGGCGCGCGATCTTGTAGT	0.687000														50			37		0	0	0.000319135	0	0
WHSC1	7468	broad.mit.edu	37	4	1957846	1957846	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:1957846C>T	uc003gdz.4	+	14	2988	c.2812C>T	c.(2812-2814)Ccg>Tcg	p.P938S	WHSC1_uc003geb.4_Missense_Mutation_p.P938S|WHSC1_uc003gec.4_Missense_Mutation_p.P938S|WHSC1_uc003ged.4_Missense_Mutation_p.P938S|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Missense_Mutation_p.P157S|WHSC1_uc011bvh.2_5'UTR|WHSC1_uc010icf.3_Missense_Mutation_p.P286S	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	938	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCGAGTGTTCCCGTACATGGA	0.498000			T	IGH@	MM									111			97		0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10415777	10415777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:10415777C>T	uc002gmo.3	-	11	1189	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	365	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTTGAATTTCATGTTCCCAT	0.433000														4			34		0	0	0.000409698	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353822	45353822	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:45353822C>T	uc002xsl.3	+	1	244	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	49						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGCAGGAGTTCCTGGTGGGCA	0.592000														49			28		0	0	0.000878237	0	0
KRT23	25984	broad.mit.edu	37	17	39092540	39092540	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:39092540T>G	uc002hvm.1	-	1	905	c.316A>C	c.(316-318)Aaa>Caa	p.K106Q	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.K106Q|KRT23_uc002hvn.1_Missense_Mutation_p.K106Q	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	106	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGGTGCCATTTCAGGATGCGG	0.547000														57			88		0	0	0.000781405	0	0
NBEA	26960	broad.mit.edu	37	13	35751166	35751166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:35751166C>T	uc021rid.1	+	27	5122	c.4588C>T	c.(4588-4590)Cct>Tct	p.P1530S	NBEA_uc021ric.1_Missense_Mutation_p.P1527S|NBEA_uc010abi.3_Missense_Mutation_p.P218S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1530						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAACCTTTCTCCTATTAAGGA	0.348000														7			5		0	0	3.59834e-05	0	0
EPHB6	2051	broad.mit.edu	37	7	142566077	142566077	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:142566077A>G	uc011kst.2	+	13	2784	c.1997A>G	c.(1996-1998)gAt>gGt	p.D666G	EPHB6_uc011ksu.2_Missense_Mutation_p.D666G|EPHB6_uc003wbs.3_Missense_Mutation_p.D374G|EPHB6_uc003wbt.3_Missense_Mutation_p.D140G|EPHB6_uc003wbu.3_Missense_Mutation_p.D374G|EPHB6_uc003wbv.3_Missense_Mutation_p.D50G	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	666						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGGAAGTCGATCCTGCTTAT	0.592000														49			7		0	0	0.000157383	0	0
ATXN1	6310	broad.mit.edu	37	6	16327906	16327906	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:16327906C>A	uc003nbt.3	-	7	1607	c.636G>T	c.(634-636)caG>caT	p.Q212H	ATXN1_uc010jpi.3_Missense_Mutation_p.Q212H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	212	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgatgctgat	0.672000														26			4		0.00024832	0.00353177	0.00024832	1	0
MEP1A	4224	broad.mit.edu	37	6	46803091	46803091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:46803091C>T	uc011dwh.1	+	11	1981	c.1973C>T	c.(1972-1974)tCg>tTg	p.S658L	MEP1A_uc010jzh.1_Missense_Mutation_p.S630L|MEP1A_uc011dwg.1_Missense_Mutation_p.S352L|MEP1A_uc011dwi.1_Missense_Mutation_p.S530L	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	630					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.S630L(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GAAGAAGGTTCGGGAAAGGCC	0.607000														24			12		0	0	0.00010058	0	0
LRCH1	23143	broad.mit.edu	37	13	47315858	47315859	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:47315858_47315859GG>TT	uc001vbk.3	+	19	2403_2404	c.2167_2168GG>TT	c.(2167-2169)ggg>TTg	p.G723L	LRCH1_uc001vbj.3_Missense_Mutation_p.G688L|LRCH1_uc001vbl.4_Intron|LRCH1_uc021rjj.1_Non-coding_Transcript	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	688										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GCTGGCACTCGGGGAGAAAGCC	0.515000														331			10		0	0	6.4e-05	0	0
ELMO2	63916	broad.mit.edu	37	20	45012104	45012104	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:45012104A>G	uc010zxr.1	-	9	917	c.707T>C	c.(706-708)aTt>aCt	p.I236T	ELMO2_uc002xrs.1_5'Flank|ELMO2_uc002xrt.1_Missense_Mutation_p.I236T|ELMO2_uc002xru.1_Missense_Mutation_p.I236T|ELMO2_uc010zxs.1_Missense_Mutation_p.I53T|ELMO2_uc002xrw.3_Missense_Mutation_p.I53T|ELMO2_uc002xrx.1_Missense_Mutation_p.I236T	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	236					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AATCAGTGCAATGGCGTAGGT	0.443000														80			62		0	0	0.000781405	0	0
SYT15	83849	broad.mit.edu	37	10	46967721	46967721	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:46967721C>T	uc001jea.3	-	4	509	c.356_splice	c.e4-1	p.G119_splice	SYT15_uc001jdz.2_Splice_Site_p.G119_splice|SYT15_uc001jeb.3_Splice_Site|SYT15_uc010qfp.1_Splice_Site	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	119						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						ACATGCATCTCCTATGACAGA	0.637000														114			26		0	0	0.000227799	0	0
SLC36A3	285641	broad.mit.edu	37	5	150682882	150682882	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:150682882G>T	uc003ltx.2	-	0	453	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	SLC36A3_uc003ltw.2_Missense_Mutation_p.L12M	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	12						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGAGTTCAGCTCACTGTTG	0.512000														81			8		0.000274275	0.00389042	0.000274275	1	0
MUC5B	727897	broad.mit.edu	37	11	1268950	1268950	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:1268950G>A	uc001lta.3	+	30	10899	c.10840G>A	c.(10840-10842)Ggc>Agc	p.G3614S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3614	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGCCCCTGGGCCTCGAGTG	0.682000														7			30		0	0	0.000491102	0	0
KIF24	347240	broad.mit.edu	37	9	34310800	34310801	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:34310800_34310801CC>AA	uc003zua.4	-	1	664_665	c.544_545GG>TT	c.(544-546)ggg>TTg	p.G182L	KIF24_uc010mkb.3_Missense_Mutation_p.G213L	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	182					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATCACAATCCCCCAGTATTGCA	0.356000														257			10		0	0	6.4e-05	0	0
LILRP2	79166	broad.mit.edu	37	19	55224589	55224589	+	RNA	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:55224589C>T	uc002qgs.1	+	0		c.4989C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CTTGGTCCACCATCCCCAGCC	0.612000														9			4		0	0	0.00024832	0	0
EXT1	2131	broad.mit.edu	37	8	118819584	118819584	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:118819584G>A	uc003yok.1	-	8	2528	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	585					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCCTCTCAGGGAAGCTCTGCC	0.507000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					18			13		0	0	0.000219431	0	0
COL7A1	1294	broad.mit.edu	37	3	48626159	48626159	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:48626159C>T	uc003ctz.2	-	18	2504	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	835	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTCCACCTTCGAGACCCCGG	0.602000														16			54		0	0	0.000781405	0	0
CFB	629	broad.mit.edu	37	6	31914897	31914898	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31914897_31914898CG>AT	uc003nyj.4	+	2	690_691	c.412_413CG>AT	c.(412-414)cgg>ATg	p.R138M	CFB_uc011dor.2_Missense_Mutation_p.R640M|CFB_uc011dos.1_Splice_Site|CFB_uc003nyi.2_Missense_Mutation_p.R138M	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	138	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTACACTCTCCGGGGCTCTGCC	0.559000														512			9		0	0	6.4e-05	0	0
CLP1	10978	broad.mit.edu	37	11	57428555	57428555	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:57428555C>T	uc001nkw.3	+	2	1064	c.925C>T	c.(925-927)Cga>Tga	p.R309*	CLP1_uc010rjw.2_Nonsense_Mutation_p.R245*|CLP1_uc009yml.3_Nonsense_Mutation_p.R309*	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	309					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TTATGGATTCCGAGGCTGTTT	0.502000														91			80		0	0	0.000781405	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141131	63141131	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:63141131C>T	uc001nww.3	+	2	790	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	174					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGAAGGTTCGTGCTCAGAT	0.458000														10			5		0	0	3.59834e-05	0	0
MAP2	4133	broad.mit.edu	37	2	210559009	210559009	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:210559009G>A	uc002vde.1	+	6	2363	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P	MAP2_uc002vdc.1_Silent_p.P705P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.P701P	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	705			P -> L (in a colorectal cancer sample; somatic mutation).		central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.P705L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCAATTTGCCGATGTCTTGCC	0.433000														47			43		0	0	0.000781405	0	0
RXFP1	59350	broad.mit.edu	37	4	159573010	159573010	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:159573010C>T	uc003ipz.3	+	17	2340	c.2077C>T	c.(2077-2079)Cat>Tat	p.H693Y	RXFP1_uc010iqk.3_Missense_Mutation_p.H561Y|RXFP1_uc011cja.2_Missense_Mutation_p.H588Y|RXFP1_uc010iqo.3_Missense_Mutation_p.H645Y|RXFP1_uc011cjb.2_Missense_Mutation_p.H591Y|RXFP1_uc011cjc.2_Missense_Mutation_p.H612Y|RXFP1_uc011cjd.2_Missense_Mutation_p.H612Y|RXFP1_uc010iql.3_Missense_Mutation_p.H537Y|RXFP1_uc011cje.2_Missense_Mutation_p.H720Y|RXFP1_uc010iqm.3_Missense_Mutation_p.H660Y|RXFP1_uc011cjf.2_Missense_Mutation_p.H562Y|RXFP1_uc010iqn.3_Missense_Mutation_p.H638Y	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	693						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGAAATGATTCATCGGTTTTG	0.388000														38			29		0	0	0.000184323	0	0
DSCAM	1826	broad.mit.edu	37	21	41385160	41385160	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr21:41385160G>A	uc002yyq.1	-	32	6292	c.5840C>T	c.(5839-5841)cCg>cTg	p.P1947L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1947				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.P1947P(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCTTCCATCGGGATGGGCTC	0.657000														27			19		0	0	0.000958276	0	0
FAP	2191	broad.mit.edu	37	2	163039979	163039979	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:163039979C>T	uc002ucd.3	-	21	2023	c.1815_splice	c.e21-1	p.R605_splice	FAP_uc010fpc.3_Splice_Site_p.R154_splice|FAP_uc010zct.2_Splice_Site_p.R580_splice	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	605					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATGAATTTTCTAAAGTAAAA	0.284000														19			17		0	0	0.00074312	0	0
PSMG2	56984	broad.mit.edu	37	18	12706651	12706651	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:12706651C>T	uc002krk.3	+	1	280	c.160C>T	c.(160-162)Cca>Tca	p.P54S	PSMG2_uc002krg.3_Missense_Mutation_p.P23S|PSMG2_uc002krj.2_Missense_Mutation_p.P54S	NM_020232	NP_671692	Q969U7	PSMG2_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 2 (PSMG2), transcript variant 1, mRNA.	54					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						TTGTCTTGTGCCAATGGTTGG	0.378000														87			31		0	0	0.000227799	0	0
MLL	4297	broad.mit.edu	37	11	118365427	118365427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:118365427C>T	uc001pta.3	+	17	5322	c.5299C>T	c.(5299-5301)Cca>Tca	p.P1767S	MLL_uc001ptb.3_Missense_Mutation_p.P1770S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1767					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACGTGTTTTTCCATGGTTCAG	0.338000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									43			21		0	0	0.000175454	0	0
PGBD1	84547	broad.mit.edu	37	6	28268649	28268649	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:28268649C>T	uc003nky.3	+	6	1438	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	PGBD1_uc003nkz.3_Nonsense_Mutation_p.R340*	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	340					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.R340R(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGACATTACCCGAAAAGGGAG	0.483000														26			85		0	0	0.000781405	0	0
ANAPC5	51433	broad.mit.edu	37	12	121783760	121783761	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:121783760_121783761GG>TT	uc001uag.3	-	3	593_594	c.471_472CC>AA	c.(469-474)gccctt>gcAAtt	p.L158I	ANAPC5_uc001uah.3_Missense_Mutation_p.L59I	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	158					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACTGCTGAAGGGCAGTGTACA	0.426000														532			16		0	0	6.4e-05	0	0
POLH	5429	broad.mit.edu	37	6	43555013	43555014	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:43555013_43555014CG>AT	uc003ovq.4	+	3	581_582	c.277_278CG>AT	c.(277-279)cgg>ATg	p.R93M	POLH_uc010jyu.2_Intron|POLH_uc011dvl.1_Non-coding_Transcript|POLH_uc003ovr.3_5'UTR	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	93	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding	p.R93W(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TCTTAGGTACCGGGAAGCCAGT	0.446000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					218			7		0	0	6.4e-05	0	0
CSMD2	114784	broad.mit.edu	37	1	34087804	34087804	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:34087804G>A	uc001bxm.1	-	36	5967	c.5790C>T	c.(5788-5790)atC>atT	p.I1930I	CSMD2_uc001bxn.1_Silent_p.I1890I|CSMD2_uc001bxo.1_Silent_p.I803I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1890	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGATACGCTGATATCTGAGT	0.517000														89			60		0	0	0.000781405	0	0
PIK3CB	5291	broad.mit.edu	37	3	138407753	138407754	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:138407753_138407754CC>AA	uc011bmq.2	-	13	2099_2100	c.2099_2100GG>TT	c.(2098-2100)cgg>cTT	p.R700L	PIK3CB_uc011bmn.2_Missense_Mutation_p.R212L|PIK3CB_uc011bmo.2_Missense_Mutation_p.R146L|PIK3CB_uc011bmp.2_Missense_Mutation_p.R287L	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	700	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCACACTTCCCCGGCAGTATGC	0.381000														373			11		0	0	6.4e-05	0	0
CDC123	8872	broad.mit.edu	37	10	12280483	12280484	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:12280483_12280484GG>TT	uc001ill.3	+	10	1001	c.717_splice	c.e10+1	p.R239_splice		NM_006023	NP_006014	O75794	CD123_HUMAN	Homo sapiens cell division cycle 123 homolog (S. cerevisiae) (CDC123), mRNA.	239					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						AGAGACAGTAGGGTAAGTAAAA	0.317000														414			12		0	0	6.4e-05	0	0
OBP2B	29989	broad.mit.edu	37	9	136082650	136082650	+	Silent	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:136082650C>T	uc004ccz.3	-	3	393	c.351G>A	c.(349-351)caG>caA	p.Q117Q	OBP2B_uc010nad.3_Non-coding_Transcript|OBP2B_uc011mcy.2_Silent_p.Q49Q	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	Homo sapiens odorant binding protein 2B (OBP2B), mRNA.	117					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCCCATGGTGCTGGTCTTTGC	0.587000														4			16		0	0	0.000566183	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926756	43926756	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:43926756C>T	uc003bdy.2	-	30	4636	c.4322G>A	c.(4321-4323)cGc>cAc	p.R1441H	EFCAB6_uc003bdz.2_Missense_Mutation_p.R1289H|EFCAB6_uc010gzi.2_Missense_Mutation_p.R1289H	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1441	EF-hand 16.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.R1441S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTGAACGTGCGCCGCATTGG	0.562000														43			33		0	0	0.000814825	0	0
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr21:41719705C>T	uc002yyq.1	-	5	1554	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	368	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E368Q(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATAAGGTTTTCGTGGTTGATC	0.512000														90			60		0	0	0.000781405	0	0
LAMA3	3909	broad.mit.edu	37	18	21481141	21481141	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:21481141G>A	uc002kuq.3	+	47	6141	c.6055G>A	c.(6055-6057)Ggg>Agg	p.G2019R	LAMA3_uc002kur.3_Missense_Mutation_p.G1963R|LAMA3_uc002kus.4_Missense_Mutation_p.G410R|LAMA3_uc002kut.4_Missense_Mutation_p.G354R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2019	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGAACAATGGGCTTGCTAA	0.498000														54			17		0	0	0.000175454	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881883	15881883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:15881883G>A	uc010xor.1	-	3	514	c.494C>T	c.(493-495)aCc>aTc	p.T165I	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		AGTGGGAAGGGTATGGCGCCG	0.537000														35			26		0	0	0.000720815	0	0
LIFR	3977	broad.mit.edu	37	5	38527298	38527298	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:38527298C>T	uc010ive.1	-	3	688	c.356G>A	c.(355-357)gGa>gAa	p.G119E	LIFR_uc003jli.2_Missense_Mutation_p.G119E	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	119	Fibronectin type-III 1.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTAGAACTTCCAAAATCATG	0.303000			T	PLAG1	salivary adenoma									12			8		0	0	0.000274275	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618031	156618031	+	Silent	SNP	G	A	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:156618031G>A	uc003iov.3	+	3	548	c.12G>A	c.(10-12)acG>acA	p.T4T	GUCY1A3_uc003iou.2_Silent_p.T4T|GUCY1A3_uc010iqc.2_Silent_p.T4T|GUCY1A3_uc010iqd.3_Silent_p.T4T|GUCY1A3_uc003iow.3_Silent_p.T4T|GUCY1A3_uc003iox.3_Silent_p.T4T|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.T4T|GUCY1A3_uc003ioz.3_Intron|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Silent_p.T4T	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	4					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGTTCTGCACGAAGCTCAAGG	0.488000														18			4		0	0	0.000602214	0	0
ANO3	63982	broad.mit.edu	37	11	26655833	26655833	+	Silent	SNP	C	T	T	rs144906007		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:26655833C>T	uc001mqt.4	+	18	2101	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	ANO3_uc010rdr.2_Silent_p.S636S|ANO3_uc010rds.2_Silent_p.S491S|ANO3_uc010rdt.2_Silent_p.S506S	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	652						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TAAACAGTTCCATCTTCTATA	0.373000														7			11		0	0	0.00010058	0	0
ATP2C1	27032	broad.mit.edu	37	3	130673915	130673917	+	In_Frame_Del	DEL	AGC	-	-			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:130673915_130673917delAGC	uc011bli.2	+	8	1145_1147	c.849_851delAGC	c.(847-852)caagca>caa	p.A284del	ATP2C1_uc011blg.2_In_Frame_Del_p.A284del|ATP2C1_uc011blh.2_In_Frame_Del_p.A245del|ATP2C1_uc003enk.3_In_Frame_Del_p.A234del|ATP2C1_uc003enl.3_In_Frame_Del_p.A250del|ATP2C1_uc003enm.3_In_Frame_Del_p.A250del|ATP2C1_uc003enn.3_In_Frame_Del_p.A234del|ATP2C1_uc003eno.3_In_Frame_Del_p.A250del|ATP2C1_uc003enp.3_In_Frame_Del_p.A250del|ATP2C1_uc003ent.3_In_Frame_Del_p.A250del|ATP2C1_uc003ens.3_In_Frame_Del_p.A250del	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	250					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AAATGATGCAAGCAGAAGAGGTG	0.320									Hailey-Hailey disease				---	25	---	---	13	---					
KIAA0368	23392	broad.mit.edu	37	9	114131447	114131448	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:114131447_114131448insT	uc004bfe.1	-	46	5514_5515	c.5514_5515insA	c.(5512-5517)tcacttfs	p.S1838fs		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTGCTTTCAAGTGAGTTCTAGG	0.411													---	5	---	---	14	---					
PDXDC1	23042	broad.mit.edu	37	16	15111005	15111006	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:15111005_15111006delTA	uc002dda.4	+	9	1065_1066	c.841_842delTA	c.(841-843)tatfs	p.Y281fs	PDXDC1_uc010uzl.2_Frame_Shift_Del_p.Y266fs|PDXDC1_uc010uzm.2_Frame_Shift_Del_p.Y190fs|PDXDC1_uc002dcz.3_Frame_Shift_Del_p.Y258fs|PDXDC1_uc002ddb.4_Frame_Shift_Del_p.Y254fs|PDXDC1_uc010uzn.2_Frame_Shift_Del_p.Y253fs|PDXDC1_uc002ddc.3_Frame_Shift_Del_p.Y281fs	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	281					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.G280C(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGCTCTGGGTTATGTCTCCTCA	0.356													---	415	---	---	105	---					
TP53	7157	broad.mit.edu	37	17	7578206	7578207	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:7578206_7578207delTA	uc002gim.2	-	5	836_837	c.642_643delTA	c.(640-645)catagtfs	p.H214fs	TP53_uc002gig.1_Frame_Shift_Del_p.H214fs|TP53_uc002gih.3_Frame_Shift_Del_p.H214fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.H82fs|TP53_uc010cnf.1_Frame_Shift_Del_p.H82fs|TP53_uc002gii.1_Frame_Shift_Del_p.H82fs|TP53_uc010cni.1_Frame_Shift_Del_p.H214fs|TP53_uc010cnh.1_Frame_Shift_Del_p.H214fs|TP53_uc002gij.2_Frame_Shift_Del_p.H214fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.H121fs|TP53_uc002gio.2_Frame_Shift_Del_p.H82fs|TP53_uc010vug.2_Frame_Shift_Del_p.H175fs|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(217)|p.H214R(53)|p.R213L(35)|p.R213Q(27)|p.S215R(19)|p.S215I(16)|p.S215G(12)|p.S215C(10)|p.R213fs*34(10)|p.H214Q(8)|p.0?(8)|p.S215N(7)|p.H214Y(5)|p.R213P(5)|p.?(5)|p.S215fs*32(5)|p.H214D(4)|p.H214fs*33(4)|p.H214fs*5(4)|p.R213R(4)|p.S215T(3)|p.R213G(3)|p.H214fs*7(2)|p.S215fs*27(2)|p.S215del(2)|p.H214_S215insX(2)|p.D208_V216delDRNTFRHSV(2)|p.H214H(2)|p.S215fs*29(2)|p.T211_S215delTFRHS(2)|p.S215S(2)|p.S215fs*31(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.K164_P219del(1)|p.S215_V218>R(1)|p.S215_V218>RR(1)|p.R213>L(1)|p.R213*33(1)|p.D208fs*1(1)|p.S215_V218>M(1)|p.R213fs*2(1)|p.R209_R213delRNTFR(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.R213fs*35(1)|p.D207_R213delDDRNTFR(1)|p.R209fs*6(1)|p.R213W(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)		ACCACCACACTATGTCGAAAAG	0.540		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)			---	7	---	---	7	---					
TYK2	7297	broad.mit.edu	37	19	10463113	10463113	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:10463113delG	uc002moc.4	-	22	3693	c.3315delC	c.(3313-3315)cccfs	p.P1105fs	TYK2_uc010dxe.3_Frame_Shift_Del_p.P920fs	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1105	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CTCTCACCGTGGGGGGGCTCT	0.602													---	107	---	---	54	---