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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC51A	200931	broad.mit.edu	37	3	195955067	195955067	+	Silent	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:195955067G>T	ENST00000296327.5	+	5	653	c.444G>T	c.(442-444)ctG>ctT	p.L148L		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGAGGACGCTGAGGGACACCC	0.627000													6	206					0.217242	0.217595	1	1	0
DDX39B	7919	broad.mit.edu	37	6	31508228	31508228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31508228C>A	ENST00000417556.2	-	2	712	c.82G>T	c.(82-84)Gag>Tag	p.E28*	DDX39B_ENST00000415382.2_Silent_p.L23L|DDX39B_ENST00000396172.1_Nonsense_Mutation_p.E28*|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Nonsense_Mutation_p.E28*|DDX39B_ENST00000453105.2_Silent_p.L23L|DDX39B_ENST00000449074.2_Nonsense_Mutation_p.E28*|DDX39B_ENST00000458640.1_Nonsense_Mutation_p.E28*			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	28					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCAGGGGCCTCAGCCCCATCT	0.567000													31	93					1.36615e-20	1.48683e-20	1	1	0
RAD52	5893	broad.mit.edu	37	12	1025635	1025635	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:1025635G>C	ENST00000358495.3	-	9	878	c.740C>G	c.(739-741)tCc>tGc	p.S247C	RAD52_ENST00000536177.1_Missense_Mutation_p.I264M|RAD52_ENST00000430095.2_Missense_Mutation_p.S247C|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.S170C	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	247					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTCCACGGCGGATGAGCTCAG	0.682000								Homologous recombination					11	18					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38693803	38693803	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:38693803G>C	ENST00000379931.3	+	8	2252	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	TACC1_ENST00000520973.1_Missense_Mutation_p.E389Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E539Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E418Q|TACC1_ENST00000348567.4_Missense_Mutation_p.E175Q|TACC1_ENST00000276520.8_Missense_Mutation_p.E203Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E417Q|TACC1_ENST00000317827.4_Missense_Mutation_p.E613Q|TACC1_ENST00000330691.6_Missense_Mutation_p.E187Q|TACC1_ENST00000520611.1_Missense_Mutation_p.E51Q|TACC1_ENST00000520340.1_Missense_Mutation_p.E548Q|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.E600Q			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	613					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AATAAGAGAAGAGGTAAAAGC	0.507000													29	56					0	0	1	0	0
PHF23	79142	broad.mit.edu	37	17	7139465	7139465	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:7139465C>G	ENST00000320316.3	-	4	1007	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	PHF23_ENST00000571362.1_Missense_Mutation_p.E194Q|PHF23_ENST00000576955.1_Missense_Mutation_p.E131Q|PHF23_ENST00000454255.2_Missense_Mutation_p.E257Q	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	261	Poly-Glu.						zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GTTGCCATCtcttcttcttct	0.622000													33	102					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145617171	145617171	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:145617171G>A	ENST00000308860.6	+	10	1089	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	349	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCTTTGCTGAGCAGATATT	0.632000													43	76					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6021411	6021411	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:6021411G>A	ENST00000574946.1	+	8	1668	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L	WSCD1_ENST00000539421.1_Silent_p.L426L|WSCD1_ENST00000574232.1_Silent_p.L426L|WSCD1_ENST00000573634.1_Silent_p.L310L|WSCD1_ENST00000317744.5_Silent_p.L426L			Q658N2	WSCD1_HUMAN	WSC domain containing 1	426						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGCCATCCTGCTAATCCGGA	0.542000													16	46					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255015	15255015	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:15255015C>G	ENST00000378116.4	-	8	2578	c.2572G>C	c.(2572-2574)Gag>Cag	p.E858Q		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	858						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCTCTTCCTCGTGGGCAGAT	0.592000													58	158					0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48562221	48562221	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:48562221G>A	ENST00000258955.2	+	9	1413	c.1328G>A	c.(1327-1329)tGa>tAa	p.*443*		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	0					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCAGGAGGATGACAAAAATGT	0.582000													10	16					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36291094	36291094	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:36291094G>A	ENST00000437635.2	-	8	1624	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	483								p.R483W(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GTGGAGGGCCGATGGCCACCA	0.647000													38	93					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518372	108518372	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:108518372G>A	ENST00000375915.2	-	1	711	c.573C>T	c.(571-573)tgC>tgT	p.C191C		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	191						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGTTCCTGGCGCACACCGCGT	0.647000													4	168					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130854	52130854	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:52130854G>C	ENST00000222107.4	-	6	1281	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.F381L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.F381L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.F381L|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.F381L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	381					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGTTGACCTTGAATGAGCCCT	0.652000													15	41					0	0	1	0	0
EFCC1	79825	broad.mit.edu	37	3	128755945	128755945	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:128755945G>A	ENST00000436022.2	+	6	1575	c.264G>A	c.(262-264)caG>caA	p.Q88Q	EFCC1_ENST00000480450.1_Silent_p.Q525Q	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		AGCTCCTGCAGAGGCTCCGGG	0.632000													4	14					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35066071	35066071	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:35066071G>C	ENST00000382002.5	-	10	1415	c.989C>G	c.(988-990)tCa>tGa	p.S330*	PRLR_ENST00000342362.5_Nonsense_Mutation_p.S229*|PRLR_ENST00000231423.3_Nonsense_Mutation_p.S330*|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Nonsense_Mutation_p.S229*|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Nonsense_Mutation_p.S330*	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	330					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			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)	GTGTTCTTTTGAATGGACTGA	0.483000													11	49					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18364025	18364025	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:18364025G>A	ENST00000429452.1	-	17	2638	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000585038.1_Silent_p.I762I|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000441493.2_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1249	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGACAGGGTGATCACTTTTT	0.547000													30	109					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68506923	68506923	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:68506923C>G	ENST00000322244.4	-	18	1559	c.1500G>C	c.(1498-1500)ttG>ttC	p.L500F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	500					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATTTCTCTATCAAGTCAGGAT	0.284000													52	129					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154795	22154795	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:22154795G>A	ENST00000397126.4	-	4	3189	c.3041C>T	c.(3040-3042)tCa>tTa	p.S1014L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATAAGGTTTGATGACCAGTT	0.398000													35	76					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586482	56586482	+	Silent	SNP	C	C	T	rs149812809		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:56586482C>T	ENST00000336078.4	+	4	1739	c.963C>T	c.(961-963)atC>atT	p.I321I	ZNF532_ENST00000591083.1_Silent_p.I321I|ZNF532_ENST00000591808.1_Silent_p.I321I|ZNF532_ENST00000591230.1_Silent_p.I321I|ZNF532_ENST00000589288.1_Silent_p.I321I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I321I(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGAATCTCATCGACGGGACCA	0.527000													45	151					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104033919	104033919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:104033919G>T	ENST00000388887.2	+	9	1129	c.925G>T	c.(925-927)Gag>Tag	p.E309*		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	309					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						CGAGTGTAAGGAGCATTACCA	0.403000													24	86					9.95505e-16	1.06464e-15	1	1	0
NRK	203447	broad.mit.edu	37	X	105153231	105153231	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:105153231G>A	ENST00000428173.2	+	13	1904	c.1601G>A	c.(1600-1602)gGc>gAc	p.G534D	NRK_ENST00000243300.9_Missense_Mutation_p.G533D			Q7Z2Y5	NRK_HUMAN	Nik related kinase	533	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAAAGGCAGGGCCAGGCCCCT	0.562000										HNSCC(51;0.14)			15	32					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93712233	93712233	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:93712233C>T	ENST00000334746.5	-	10	2828	c.2521G>A	c.(2521-2523)Gct>Act	p.A841T	BTBD7_ENST00000554565.1_Missense_Mutation_p.A490T|BTBD7_ENST00000393170.2_Missense_Mutation_p.A415T	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	841										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GTGGCGGCAGCAGCAGCCACC	0.557000													13	39					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36462396	36462396	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:36462396C>G	ENST00000265748.2	+	14	2675	c.2454C>G	c.(2452-2454)gtC>gtG	p.V818V	ANLN_ENST00000396068.2_Silent_p.V781V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	818	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGATTTTGTCTGCAGTACGG	0.388000													36	105					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50556995	50556995	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:50556995G>T	ENST00000376020.2	-	1	49	c.24C>A	c.(22-24)ttC>ttA	p.F8L	SHROOM4_ENST00000289292.7_Missense_Mutation_p.F8L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	8					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGACGTACTGGAAGGACCCAG	0.662000													10	27					3.07112e-06	3.13733e-06	1	1	0
ENO3	2027	broad.mit.edu	37	17	4859947	4859947	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:4859947G>A	ENST00000323997.6	+	10	1279	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	ENO3_ENST00000518175.1_Missense_Mutation_p.D383N|ENO3_ENST00000519584.1_Missense_Mutation_p.D340N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	383					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						ATTCATTGCTGACCTTGTGGT	0.552000											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	105					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3983259	3983259	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:3983259C>T	ENST00000309311.6	-	3	337	c.249G>A	c.(247-249)gaG>gaA	p.E83E	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	83						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAGTCATTCTCCGAGAGCT	0.592000													11	29					0	0	1	0	0
TRIAP1	51499	broad.mit.edu	37	12	120882728	120882728	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:120882728C>T	ENST00000546954.1	-	2	217	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'UTR	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1	60					anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAGTCCTTCAATAGGAATC	0.388000													55	130					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58324919	58324919	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:58324919G>A	ENST00000219301.4	-	4	601	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGCAGCCGAAAGCCAGGT	0.627000													23	60					0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309866	22309866	+	RNA	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:22309866G>A	ENST00000390433.1	+	0	250																											AAGGTTTACAGCACAGCTCAA	0.473000													4	189					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53572036	53572036	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:53572036C>T	ENST00000342160.3	-	70	11459	c.11002G>A	c.(11002-11004)Gag>Aag	p.E3668K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3668K|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3668					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCTGCTCCTCAGGCAGGCCA	0.597000													12	16					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274484	51274484	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:51274484C>A	ENST00000270590.4	+	1	764	c.627C>A	c.(625-627)gtC>gtA	p.V209V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	209						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTGAAGGGGTCGTGGAGGGAC	0.547000													6	49					3.59834e-05	3.65771e-05	1	1	0
NUCKS1	64710	broad.mit.edu	37	1	205689659	205689659	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:205689659C>G	ENST00000367142.4	-	5	654	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	118						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCTCCTCTTCTTGTTCTTCC	0.443000													34	79					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134006208	134006208	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:134006208G>A	ENST00000338492.4	+	3	339	c.175G>A	c.(175-177)Gac>Aac	p.D59N	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	59					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CAAGACCATTGACGCCCACGG	0.577000													19	52					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70533395	70533395	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:70533395C>A	ENST00000260128.4	+	14	2220	c.1503C>A	c.(1501-1503)gaC>gaA	p.D501E	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.D501E|SULF1_ENST00000402687.4_Missense_Mutation_p.D501E|SULF1_ENST00000458141.2_Missense_Mutation_p.D501E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	501					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATGACAAAGACAAAGAGTGCA	0.532000													13	49					1.61879e-10	1.69877e-10	1	1	0
RAB18	22931	broad.mit.edu	37	10	27826858	27826858	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:27826858G>A	ENST00000356940.6	+	7	601	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	RAB18_ENST00000535776.1_Missense_Mutation_p.E103K|RAB18_ENST00000375802.3_Missense_Mutation_p.E122K|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	167					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						AGAACTTGTTGAAAAGATCAT	0.448000													15	55					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917690	26917690	+	Silent	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:26917690A>G	ENST00000539517.2	-	5	1316	c.999T>C	c.(997-999)ggT>ggC	p.G333G	NOVA1_ENST00000465357.2_Silent_p.G309G|NOVA1_ENST00000267422.7_Silent_p.G211G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	336	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGAGACCTAAACCTAAAGTGT	0.502000													10	31					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33587632	33587632	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:33587632C>G	ENST00000262873.7	+	36	4922	c.4830C>G	c.(4828-4830)atC>atG	p.I1610M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1568						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCTGCGGATCCAGCTGGAGC	0.637000													16	44					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961650	85961650	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:85961650C>T	ENST00000383699.3	+	6	1284	c.657C>T	c.(655-657)ctC>ctT	p.L219L	CADM2_ENST00000405615.2_Silent_p.L212L|CADM2_ENST00000407528.2_Silent_p.L210L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	210	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACGAATCCCTCAATGCCACCC	0.498000													10	30					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5668195	5668195	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:5668195G>A	ENST00000292123.5	+	21	2748	c.2641G>A	c.(2641-2643)Ggg>Agg	p.G881R	SAFB_ENST00000592224.1_Missense_Mutation_p.G882R|SAFB_ENST00000538656.1_Missense_Mutation_p.G725R|SAFB_ENST00000454510.1_Missense_Mutation_p.G814R|SAFB_ENST00000433404.1_Missense_Mutation_p.G713R|SAFB_ENST00000588852.1_Missense_Mutation_p.G883R	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	881	Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGCCCCAGGCGGGGCCTCCCG	0.682000													4	138					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76091050	76091050	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:76091050C>T	ENST00000238667.4	+	3	1263	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51W|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98W|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51W	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	303					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCCATCGCCCGGCTCTTCAA	0.478000													4	91					0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177546744	177546744	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:177546744G>C	ENST00000274605.5	+	2	519	c.160G>C	c.(160-162)Gag>Cag	p.E54Q		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	54						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCAGCGTGAGTTCCTCAG	0.657000													40	105					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38197201	38197201	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:38197201G>A	ENST00000373048.4	-	7	1544	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	EPHA10_ENST00000427468.2_Silent_p.T515T|EPHA10_ENST00000330210.7_Silent_p.T10T|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Silent_p.T10T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	515	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTTGGTGACGGTGACTGTGG	0.597000													4	213					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110279755	110279755	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:110279755G>T	ENST00000540225.1	-	9	926	c.616C>A	c.(616-618)Cag>Aag	p.Q206K	GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000256594.3_Missense_Mutation_p.Q206K|GSTM3_ENST00000361066.2_Missense_Mutation_p.Q206K|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	206	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTGCAGAACTGATCAGACTGT	0.473000													8	50					0.307466	0.307466	1	1	0
TAS2R16	50833	broad.mit.edu	37	7	122634944	122634944	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:122634944C>G	ENST00000249284.2	-	1	810	c.745G>C	c.(745-747)Ggt>Cgt	p.G249R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	249					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATAGAGTACCTATAATGGTG	0.428000													38	121					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36099454	36099454	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:36099454C>T	ENST00000225893.4	-	2	882	c.521G>A	c.(520-522)aGa>aAa	p.R174K	HNF1B_ENST00000427275.2_Missense_Mutation_p.R174K|HNF1B_ENST00000560016.1_Missense_Mutation_p.R174K|HNF1B_ENST00000561193.1_Missense_Mutation_p.R174K	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	174					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCGTTGCTTTCTGACGTACCA	0.562000													9	91					0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	32987599	32987599	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:32987599G>C	ENST00000379817.2	-	3	622	c.426C>G	c.(424-426)agC>agG	p.S142R	APTX_ENST00000379825.2_Missense_Mutation_p.S156R|APTX_ENST00000379813.3_Missense_Mutation_p.S142R|APTX_ENST00000397172.3_Intron|APTX_ENST00000476858.1_Missense_Mutation_p.S102R|APTX_ENST00000309615.3_Missense_Mutation_p.S156R|APTX_ENST00000468275.1_Missense_Mutation_p.S142R|APTX_ENST00000463596.1_Missense_Mutation_p.S142R|APTX_ENST00000379819.1_Missense_Mutation_p.S156R|APTX_ENST00000436040.2_Missense_Mutation_p.S142R			Q7Z2E3	APTX_HUMAN	aprataxin	156					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GGCCAGAGTTGCTCCCAGGTT	0.483000								Editing and processing nucleases					28	95					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99894132	99894132	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:99894132C>T	ENST00000327681.6	-	14	2048	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	USP45_ENST00000500704.2_Missense_Mutation_p.E506K|USP45_ENST00000369233.2_Missense_Mutation_p.E458K|USP45_ENST00000392738.2_Missense_Mutation_p.E186K|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	506					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCTGAAGGCTCACTGTCAGCA	0.493000													15	43					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111155623	111155623	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:111155623G>C	ENST00000360467.5	+	42	4339	c.4033G>C	c.(4033-4035)Gaa>Caa	p.E1345Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1345	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCTCCCAGGAGAAAAAGGTAA	0.627000													13	31					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258304	56258304	+	Silent	SNP	T	T	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:56258304T>A	ENST00000327216.2	-	1	567	c.543A>T	c.(541-543)ccA>ccT	p.P181P		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAATCAGTGGTGGGTCCGCAC	0.463000													35	100					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121383839	121383839	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:121383839G>A	ENST00000393667.3	-	21	9719	c.9609C>T	c.(9607-9609)atC>atT	p.I3203I	GOLGB1_ENST00000340645.5_Silent_p.I3193I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3193					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGGAGCCAATGATAGGAGTCC	0.468000													13	43					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111621277	111621277	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:111621277C>T	ENST00000435970.1	-	34	9917	c.9101G>A	c.(9100-9102)cGa>cAa	p.R3034Q	REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Missense_Mutation_p.R3112Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R3112Q|REV3L_ENST00000358835.3_Missense_Mutation_p.R3112Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3112					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTATTTACTCGGGAGAGTTT	0.388000								DNA polymerases (catalytic subunits)					29	77					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863601	6863601	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:6863601C>G	ENST00000307659.5	+	7	1947	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.L498V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	498							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAATAAATACCTGGATGATAT	0.383000													12	54					0	0	1	0	0
CNP	1267	broad.mit.edu	37	17	40124023	40124023	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:40124023G>A	ENST00000393892.2	+	3	934	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	CNP_ENST00000472031.1_Silent_p.P39P|CNP_ENST00000393888.1_Missense_Mutation_p.G244R|CNP_ENST00000591072.1_Missense_Mutation_p.G29R	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	264					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GAAGGCTCCCGGGGCAGAGGA	0.567000													3	47					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57432611	57432611	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:57432611G>C	ENST00000442789.2	-	17	1802	c.1515C>G	c.(1513-1515)atC>atG	p.I505M	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.I505M|MYO1A_ENST00000544473.1_Missense_Mutation_p.I343M	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	505	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CATAGTGGCAGATGCGGAAGC	0.587000													11	54					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072045	240072045	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:240072045G>C	ENST00000255380.4	+	5	2073	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	432					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CATCCAGCTAGAGTCAGCCGT	0.552000													8	23					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131012732	131012732	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:131012732C>G	ENST00000352689.6	+	1	114	c.74C>G	c.(73-75)tCc>tGc	p.S25C	MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	25					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AAGTGGAGCTCCTTTTCCTCC	0.677000													4	31					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131281	202131281	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:202131281C>G	ENST00000358485.4	+	2	445	c.249C>G	c.(247-249)ttC>ttG	p.F83L	CASP8_ENST00000323492.7_Missense_Mutation_p.F24L|CASP8_ENST00000264274.9_Missense_Mutation_p.F24L|CASP8_ENST00000264275.5_Missense_Mutation_p.F24L|CASP8_ENST00000432109.2_Missense_Mutation_p.F24L|CASP8_ENST00000392259.2_Missense_Mutation_p.F24L|CASP8_ENST00000392258.3_Missense_Mutation_p.F24L|CASP8_ENST00000392266.3_Missense_Mutation_p.F24L	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	24					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCCTCAAGTTCCTGAGCCTGG	0.433000										HNSCC(4;0.00038)			15	38					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153032532	153032532	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153032532G>C	ENST00000538966.1	+	4	590	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.E84Q|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	84	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAGCTCGAGGCCGTGGC	0.627000													14	28					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43510760	43510760	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:43510760G>A	ENST00000282041.5	-	12	2328	c.2294C>T	c.(2293-2295)tCt>tTt	p.S765F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	765					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						ATTCATAGAAGAAAGACACTT	0.358000													13	30					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101068556	101068556	+	Silent	SNP	G	G	A	rs141903124		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:101068556G>A	ENST00000259455.2	-	15	2535	c.2076C>T	c.(2074-2076)atC>atT	p.I692I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	692					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CACTCATCCCGATGTACTTGC	0.552000													13	35					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85987841	85987841	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:85987841G>A	ENST00000304195.3	-	3	488	c.282C>T	c.(280-282)ttC>ttT	p.F94F	FRMD3_ENST00000376438.1_Silent_p.F94F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	94	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCATTTGCTTGAAGATGGACT	0.403000													24	99					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18549116	18549116	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:18549116C>G	ENST00000399799.1	-	24	3814	c.2874G>C	c.(2872-2874)gaG>gaC	p.E958D		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	958	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCTCTTCATTCTCTCTTCTTA	0.323000													7	33					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152394687	152394687	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:152394687G>C	ENST00000427231.2	-	139	21166	c.20964C>G	c.(20962-20964)gtC>gtG	p.V6988V	NEB_ENST00000603639.1_Silent_p.V6988V|NEB_ENST00000397345.3_Silent_p.V6988V|NEB_ENST00000172853.10_Silent_p.V5287V|NEB_ENST00000409198.1_Silent_p.V5287V|NEB_ENST00000604864.1_Silent_p.V6988V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5287					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCGATGATAGACAATGTCTA	0.353000													30	100					0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208633089	208633089	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:208633089G>A	ENST00000295417.3	-	2	928	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	125	FZ.				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CGGGCCAGGCGAAGCCGTACT	0.721000													3	15					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93221090	93221090	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:93221090C>T	ENST00000446394.1	+	4	587	c.487C>T	c.(487-489)Cca>Tca	p.P163S	HECTD2_ENST00000371681.4_Missense_Mutation_p.P163S|HECTD2_ENST00000298068.5_Missense_Mutation_p.P163S			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	163					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TGATTCTTTCCCAGAATTAAA	0.269000													20	80					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82337813	82337813	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:82337813G>A	ENST00000558133.1	-	1	647	c.234C>T	c.(232-234)gtC>gtT	p.V78V	MEX3B_ENST00000329713.4_Silent_p.V78V			Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	78	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGATCTCGGCGACATGCTCAG	0.647000													6	24					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532724	47532724	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:47532724G>C	ENST00000300527.4	+	4	825	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	COL6A2_ENST00000397763.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.E241Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.E241Q|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	241	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCAGAAACACGAAGCCTACGG	0.642000													17	56					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107568576	107568576	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:107568576G>A	ENST00000374736.3	-	31	4804	c.4410C>T	c.(4408-4410)atC>atT	p.I1470I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1470					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCATCTTCTTGATTTTGTCGC	0.582000													17	51					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18608840	18608840	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:18608840C>T	ENST00000399799.1	-	10	2048	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	370	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCTTCCAAGTCATCAAAATTA	0.333000													33	64					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118385516	118385516	+	RNA	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:118385516G>C	ENST00000537242.1	+	0	290				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.K88K(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGGACCGCAAGACACGCTTCA	0.498000													16	26					0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74231427	74231427	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:74231427G>A	ENST00000240285.5	+	3	1300	c.622G>A	c.(622-624)Gag>Aag	p.E208K	RDH10_ENST00000519380.1_Missense_Mutation_p.E43K|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	208					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TGCCGGAGTTGAGGTTTGTCA	0.443000													46	89					0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139317659	139317659	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139317659G>C	ENST00000371717.3	+	13	1530	c.1521G>C	c.(1519-1521)caG>caC	p.Q507H	PMPCA_ENST00000399219.3_Missense_Mutation_p.Q376H	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	507					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AGCACATCCAGACCGCCCTGT	0.647000													10	39					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238672057	238672057	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:238672057G>C	ENST00000244815.5	+	10	1869	c.1629G>C	c.(1627-1629)aaG>aaC	p.K543N	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K511N|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.K567N|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	567	DNA-binding.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CATCGCagaagaagacaaaga	0.393000													26	53					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016850	1016850	+	Missense_Mutation	SNP	A	A	G	rs71472140		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:1016850A>G	ENST00000421673.2	-	31	6001	c.5951T>C	c.(5950-5952)aTg>aCg	p.M1984T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTTGCAGTCATAGGACCTGT	0.587000													22	1900					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160952780	160952780	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:160952780C>T	ENST00000447678.1	-	40	6224	c.6104G>A	c.(6103-6105)gGa>gAa	p.G2035E	LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Missense_Mutation_p.G2035E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4543	Kringle 18.				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			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)	TCTCATCATTCCCTCAATCCA	0.428000													18	69					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49033948	49033948	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:49033948G>C	ENST00000267163.4	+	20	2223	c.2085G>C	c.(2083-2085)atG>atC	p.M695I		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	695	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGAACTCATGAGAGACAGGC	0.403000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			15	42					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27277505	27277505	+	Missense_Mutation	SNP	G	G	A	rs140538134	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:27277505G>A	ENST00000397501.1	+	8	1106	c.298G>A	c.(298-300)Gat>Aat	p.D100N	PTK2B_ENST00000420218.2_Missense_Mutation_p.D100N|PTK2B_ENST00000346049.5_Missense_Mutation_p.D100N|PTK2B_ENST00000517339.1_Missense_Mutation_p.D100N|PTK2B_ENST00000544172.1_Missense_Mutation_p.D100N|PTK2B_ENST00000338238.4_Missense_Mutation_p.D100N	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	100	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.D100Y(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATGAAGTCCGATGAGATCCA	0.587000													15	38					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98157020	98157020	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:98157020G>C	ENST00000357947.3	-	11	1532	c.1307C>G	c.(1306-1308)tCc>tGc	p.S436C	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	436	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTGTCCGTGGAGACGAGGGG	0.572000													24	48					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67942577	67942577	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:67942577C>G	ENST00000304363.4	-	5	804	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	SUV420H1_ENST00000401547.2_Missense_Mutation_p.E151Q|SUV420H1_ENST00000402185.2_Missense_Mutation_p.E128Q|SUV420H1_ENST00000405515.1_Missense_Mutation_p.E151Q|SUV420H1_ENST00000402789.1_Missense_Mutation_p.E151Q	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGGCTTTCTCCAAGTGTTCA	0.353000													7	25					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115891626	115891626	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:115891626G>C	ENST00000264363.2	-	4	1859	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	394	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTCTACTAAAGATGACTCGTT	0.443000													17	32					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49043524	49043524	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:49043524C>T	ENST00000343546.4	+	8	1743	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	P4HTM_ENST00000383729.4_Missense_Mutation_p.R398C	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	398	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CGTGGACCTCCGTGACACACG	0.587000													4	173					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43363031	43363031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:43363031C>T	ENST00000290650.4	-	5	699	c.621G>A	c.(619-621)tgG>tgA	p.W207*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.W207*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	207					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTCCTCTTCCCATATAGTCA	0.373000													24	90					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425456	74425456	+	Silent	SNP	C	C	T	rs2868596		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:74425456C>T	ENST00000429990.1	+	7	906	c.810C>T	c.(808-810)ctC>ctT	p.L270L						nuclear pore complex interacting protein family, member B15																		CCGAATGTCTCCTTCATCCCC	0.488000													28	175					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	99064195	99064195	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:99064195G>A	ENST00000295268.3	-	1	196	c.107C>T	c.(106-108)aCa>aTa	p.T36I		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		CATCTTACCTGTCGCCTGCTG	0.557000											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608465	84608465	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:84608465G>T	ENST00000344803.2	+	4	3127	c.3080G>T	c.(3079-3081)aGa>aTa	p.R1027I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.R1027I(2)									TCCCTTAGAAGAGGTACTACA	0.448000													25	269					7.07758e-08	7.32738e-08	1	1	0
TBX22	50945	broad.mit.edu	37	X	79286536	79286536	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:79286536G>A	ENST00000442340.1	+	9	1619	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	TBX22_ENST00000373291.1_Missense_Mutation_p.D377N|TBX22_ENST00000373294.5_Missense_Mutation_p.D497N|TBX22_ENST00000373296.3_Missense_Mutation_p.D497N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	497					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTGAATGACGACAGTCAAGT	0.348000													13	50					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61441396	61441396	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:61441396C>G	ENST00000398571.2	-	68	8557	c.8481G>C	c.(8479-8481)aaG>aaC	p.K2827N	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2827					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGGCAATGTTCTTGGTTACCA	0.443000													54	128					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140874379	140874379	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:140874379C>A	ENST00000252085.3	+	2	2572	c.2430C>A	c.(2428-2430)gcC>gcA	p.A810A	PCDHGB3_ENST00000576222.1_Silent_p.A807A|PCDHGA2_ENST00000394576.2_Silent_p.A810A|PCDHGA4_ENST00000571252.1_Silent_p.A809A|PCDHGB1_ENST00000523390.1_Silent_p.A805A|PCDHGB2_ENST00000522605.1_Silent_p.A809A|PCDHGA3_ENST00000253812.6_Silent_p.A810A|PCDHGA7_ENST00000518325.1_Silent_p.A810A|PCDHGA9_ENST00000573521.1_Silent_p.A810A|PCDHGB4_ENST00000519479.1_Silent_p.A801A|PCDHGB6_ENST00000520790.1_Silent_p.A808A|PCDHGA11_ENST00000518882.1_Silent_p.A628A|PCDHGA1_ENST00000517417.1_Silent_p.A809A|PCDHGA5_ENST00000518069.1_Silent_p.A809A|PCDHGA6_ENST00000517434.1_Silent_p.A810A|PCDHGA8_ENST00000398604.2_Silent_p.A810A|PCDHGA10_ENST00000398610.2_Silent_p.A814A|PCDHGC3_ENST00000308177.3_Silent_p.A812A|PCDHGC4_ENST00000306593.1_Silent_p.A816A|PCDHGC5_ENST00000252087.1_Silent_p.A822A|PCDHGA11_ENST00000398587.2_Silent_p.A813A|PCDHGB7_ENST00000398594.2_Silent_p.A807A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGCAAGCCCCGCCCAACA	0.607000													20	51					5.35356e-11	5.62763e-11	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56587240	56587240	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:56587240C>T	ENST00000336078.4	+	4	2497	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	ZNF532_ENST00000591083.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S574L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S574L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGGTGGTGTCGTCCTTGCAG	0.517000													8	27					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109182988	109182988	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:109182988C>T	ENST00000326495.5	-	15	2019	c.1926G>A	c.(1924-1926)gtG>gtA	p.V642V	SSH1_ENST00000360239.3_Silent_p.V330V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	642					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGAAGGCTTCACTTTGTTAA	0.542000													5	10					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62489831	62489831	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62489831C>G	ENST00000301785.5	-	7	1309	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E373Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	373	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGGAAAGTTCTACTTCTTCA	0.443000													40	93					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35274087	35274087	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:35274087G>A	ENST00000356321.4	-	3	1893	c.1549C>T	c.(1549-1551)Cac>Tac	p.H517Y		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTTTTTAAGTGAGCTGACTGT	0.343000													23	58					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145152146	145152146	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:145152146G>A	ENST00000318911.4	+	7	958	c.885G>A	c.(883-885)atG>atA	p.M295I		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	295					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGATGATGATGGCTCTGC	0.592000													14	26					0	0	1	0	0
MRPL52	122704	broad.mit.edu	37	14	23303385	23303385	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:23303385G>A	ENST00000355151.5	+	5	257	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	MRPL52_ENST00000556840.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000397505.2_Silent_p.T54T|MRPL52_ENST00000555536.1_Silent_p.T19T|MRPL52_ENST00000557221.1_Missense_Mutation_p.R4Q|MRPL52_ENST00000397496.3_Missense_Mutation_p.R75Q|MRPL52_ENST00000432849.3_Silent_p.T77T|MRPL52_ENST00000553711.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000311892.6_Missense_Mutation_p.E13K|MRPL52_ENST00000555345.1_Missense_Mutation_p.R17Q	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	76					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TTTCAGAGACGAGTTGTACTG	0.443000													20	35					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14307474	14307474	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:14307474G>A	ENST00000571589.1	+	6	521	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	MKL2_ENST00000341243.5_Missense_Mutation_p.E106K|MKL2_ENST00000318282.5_Missense_Mutation_p.E117K|MKL2_ENST00000572567.1_Missense_Mutation_p.E106K|MKL2_ENST00000573051.1_Missense_Mutation_p.E66K|MKL2_ENST00000574045.1_Missense_Mutation_p.E117K	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	106					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACATTTTAGAAGGTAAAGG	0.303000													7	41					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167208	89167208	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:89167208C>T	ENST00000317447.4	+	3	496	c.119C>T	c.(118-120)tCg>tTg	p.S40L	ACSF3_ENST00000406948.3_Missense_Mutation_p.S40L|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	40					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGGCCCGCTCGGACAGGAGC	0.677000													18	56					0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9879810	9879810	+	Missense_Mutation	SNP	G	G	A	rs115670492	by1000genomes	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:9879810G>A	ENST00000383820.5	-	9	947	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R301W|RPUSD3_ENST00000424438.1_3'UTR	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	316					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGAAGGAGCCGATGTAGGTGG	0.662000													11	22					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071384	197071384	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:197071384C>T	ENST00000367409.4	-	18	7253	c.6997G>A	c.(6997-6999)Gag>Aag	p.E2333K	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2333	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGTGCATCTCTCGCATCCTT	0.403000													10	110					0	0	1	0	0
ARFIP2	23647	broad.mit.edu	37	11	6500028	6500028	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:6500028C>T	ENST00000254584.2	-	5	560	c.477G>A	c.(475-477)caG>caA	p.Q159Q	ARFIP2_ENST00000525235.1_Silent_p.Q159Q|ARFIP2_ENST00000445086.2_Silent_p.Q74Q|ARFIP2_ENST00000423813.2_Silent_p.Q121Q|ARFIP2_ENST00000396777.3_Silent_p.Q159Q	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	159	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGCTGGGTCTGCAGCAGGC	0.597000													13	29					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68504713	68504713	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:68504713C>G	ENST00000322244.4	-	19	1743	c.1684G>C	c.(1684-1686)Gat>Cat	p.D562H		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	562					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATAATTACATCTTGTTTAGTA	0.333000													15	39					0	0	1	0	0
MYADM	91663	broad.mit.edu	37	19	54377298	54377298	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:54377298T>C	ENST00000391769.2	+	3	795	c.515T>C	c.(514-516)gTa>gCa	p.V172A	MYADM_ENST00000391768.2_Missense_Mutation_p.V172A|MYADM_ENST00000391770.4_Missense_Mutation_p.V172A|MYADM_ENST00000391771.1_Missense_Mutation_p.V172A|MYADM_ENST00000336967.3_Missense_Mutation_p.V172A	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	172	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ATGGCCACCGTACCCGGGCTG	0.652000													32	82					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389541	6389541	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:6389541C>G	ENST00000394456.5	-	4	704	c.240G>C	c.(238-240)cgG>cgC	p.R80R	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Silent_p.R52R	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	80					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						ACTTCTTCCTCCGAGCCTCCT	0.607000													60	190					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511818	195511818	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:195511818G>A	ENST00000463781.3	-	2	7092	c.6633C>T	c.(6631-6633)gtC>gtT	p.V2211V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.V2211V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1000					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)		AAGGGCTGGTGACAGGAAGAG	0.597000													3	3					0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967898	76967898	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:76967898G>A	ENST00000262776.3	-	6	1826	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	506					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGACTTGGTGAGGCCCAGGA	0.602000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	40					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175878	140175878	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:140175878C>T	ENST00000526136.1	+	1	1329	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA2_ENST00000378132.1_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGTCCATCGAGGTGGCCG	0.652000													45	127					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077127	41077127	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:41077127C>T	ENST00000249016.4	+	2	1160	c.464C>T	c.(463-465)tCg>tTg	p.S155L	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Splice_Site_p.S155_splice	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	155					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ATCAACCTCTCGGTAGTAGAT	0.557000													33	67					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7607554	7607554	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:7607554C>G	ENST00000221249.6	+	14	1674	c.1243C>G	c.(1243-1245)Cgg>Ggg	p.R415G	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R415G|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R415G|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R454G|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R463G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	454					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCCCCCGCTCGGGTAAGGCT	0.706000													13	32					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68265222	68265222	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:68265222G>C	ENST00000347230.4	-	11	1895	c.1757C>G	c.(1756-1758)tCt>tGt	p.S586C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S586C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	586				S -> P (in Ref. 3; CAH18131).	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)		AAGATCAGCAGAGGTGATGAG	0.512000													27	39					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30415704	30415704	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:30415704G>A	ENST00000333027.3	+	17	2384	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	MTMR3_ENST00000351488.3_Missense_Mutation_p.E686K|MTMR3_ENST00000401950.2_Missense_Mutation_p.E686K|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.E686K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E550K	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	686					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CGGAGTAGCTGAGGGGCAGAT	0.607000													41	90					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154617	37154617	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:37154617G>C	ENST00000262879.6	+	13	2266	c.1982G>C	c.(1981-1983)aGa>aCa	p.R661T	RALGAPB_ENST00000397042.3_Missense_Mutation_p.R661T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R661T|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R439T			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	661					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTGAAGTTGAGACTTGTGAAT	0.353000													22	100					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955360	102955360	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:102955360C>T	ENST00000311734.2	+	3	464	c.125C>T	c.(124-126)cCt>cTt	p.P42L	IL1RL1_ENST00000393393.3_Missense_Mutation_p.P42L|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.P42L|IL1RL1_ENST00000409584.1_Missense_Mutation_p.P42L|IL1RL1_ENST00000404917.2_Intron			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	42	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CAAGGAAAACCTAGTTACACC	0.378000													34	106					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77526649	77526649	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:77526649G>T	ENST00000461745.1	+	3	1373	c.473G>T	c.(472-474)cGg>cTg	p.R158L	ROBO2_ENST00000332191.8_Missense_Mutation_p.R158L|ROBO2_ENST00000487694.3_Missense_Mutation_p.R174L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	158	Ig-like C2-type 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCCTCCCCGGGGACACCCA	0.458000													23	102					5.26018e-13	5.58667e-13	1	1	0
FEM1B	10116	broad.mit.edu	37	15	68583057	68583057	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:68583057C>G	ENST00000306917.4	+	2	1976	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	454					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GTGTGCATCTCTACCAAAACA	0.383000													26	84					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	465825	465825	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:465825C>T	ENST00000437048.2	-	14	1620	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	VPS53_ENST00000446250.2_Missense_Mutation_p.E294K|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Missense_Mutation_p.E215K|VPS53_ENST00000291074.5_Missense_Mutation_p.E463K|VPS53_ENST00000571805.1_Missense_Mutation_p.E492K	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	492					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		ATCATGGGCTCCCCAGTACTG	0.552000													30	73					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866918	7866918	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:7866918C>A	ENST00000264669.5	-	2	1415	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	427					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTAAATAAAGCAGAGGCATTT	0.338000													21	46					8.10497e-08	8.37695e-08	1	1	0
AKNA	80709	broad.mit.edu	37	9	117139390	117139390	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:117139390C>G	ENST00000307564.4	-	3	858	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	AKNA_ENST00000374075.5_Missense_Mutation_p.E152Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E233Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E233Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCAAGGTTTCTGCCAGGGCA	0.622000													17	31					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160755537	160755537	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:160755537G>A	ENST00000263636.4	-	2	155	c.128C>T	c.(127-129)aCg>aTg	p.T43M	LY75_ENST00000554112.1_Missense_Mutation_p.T43M|LY75_ENST00000553424.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T43M	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCACTTGCCCGTATTTCCATG	0.502000													4	159					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7601351	7601351	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:7601351C>T	ENST00000221249.6	+	6	646	c.215C>T	c.(214-216)tCc>tTc	p.S72F	CTD-2207O23.10_ENST00000601870.1_3'UTR|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S72F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S72F|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S111F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S120F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	111					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAATCCACCTCCTCCCTCGTG	0.547000													11	30					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938837	12938837	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:12938837G>A	ENST00000218032.6	+	2	1765	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	TLR8_ENST00000311912.5_Missense_Mutation_p.D578N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	560					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGAAGTTCTAGATCTCAGCTA	0.333000													19	40					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024347	27024347	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:27024347G>C	ENST00000354760.3	+	5	431	c.396G>C	c.(394-396)atG>atC	p.M132I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	132	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCCAGGCCATGGGATGGGAAG	0.562000													30	74					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62362519	62362519	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62362519C>T	ENST00000278823.2	-	15	1896	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	MTA2_ENST00000527204.1_Missense_Mutation_p.A330T|MTA2_ENST00000524902.1_Missense_Mutation_p.A330T	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	503					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A503T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGAGTCTTGGCGGCCTTAGGA	0.527000													4	205					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66457861	66457861	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:66457861C>G	ENST00000383703.3	-	8	1593	c.990G>C	c.(988-990)ctG>ctC	p.L330L	LRIG1_ENST00000273261.3_Silent_p.L330L			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	330						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCAGGCTGCTCAGCTCGGCCA	0.597000													14	36					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301228	29301228	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:29301228G>C	ENST00000378993.1	+	3	929	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E86Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	86	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGAGACTTTGAAGAGCCAAT	0.448000													22	75					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104433	5104433	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:5104433G>C	ENST00000396912.1	+	5	1865	c.1346G>C	c.(1345-1347)aGa>aCa	p.R449T	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.R449T|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	449	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATACATTATAGAAGTCATTTA	0.398000													19	50					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472855	2472855	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:2472855C>T	ENST00000258711.6	+	2	716	c.581C>T	c.(580-582)gCg>gTg	p.A194V		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	194					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CACCGCGGTGCGCCCTACCGC	0.677000													30	67					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87178750	87178750	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:87178750G>A	ENST00000265724.3	-	15	2056	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R483C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	547	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			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)	TTGGGGTTGCGAACCAGGGCA	0.562000													34	63					0	0	1	0	0
RILP	83547	broad.mit.edu	37	17	1549896	1549896	+	Missense_Mutation	SNP	C	C	T	rs75242198	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:1549896C>T	ENST00000301336.6	-	8	1318	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	349					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCTTTACCCCGATACCATAG	0.577000													35	81					0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88188595	88188595	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:88188595G>C	ENST00000309495.5	+	1	342	c.135G>C	c.(133-135)aaG>aaC	p.K45N	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCATTTGAAGAATCATGTTA	0.393000													14	33					0	0	1	0	0
FAM9C	171484	broad.mit.edu	37	X	13061274	13061274	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:13061274G>C	ENST00000542843.1	-	3	365	c.155C>G	c.(154-156)tCt>tGt	p.S52C	FAM9C_ENST00000333995.3_Missense_Mutation_p.S52C|FAM9C_ENST00000380625.3_Missense_Mutation_p.S52C			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	52						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TTCAGCAAAAGATCCTCTTTC	0.423000													43	166					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100820140	100820140	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:100820140C>G	ENST00000355338.2	-	6	1227	c.609G>C	c.(607-609)tgG>tgC	p.W203C	WARS_ENST00000344102.5_Missense_Mutation_p.W162C|WARS_ENST00000554084.1_5'UTR|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.W162C|WARS_ENST00000557135.1_Missense_Mutation_p.W203C|WARS_ENST00000358655.4_Missense_Mutation_p.W162C|WARS_ENST00000392882.2_Missense_Mutation_p.W203C	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	203					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCAGGTCCTTCCACAGATACT	0.498000													15	71					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535124	15535124	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:15535124C>T	ENST00000389282.4	-	9	4879	c.4666G>A	c.(4666-4668)Gac>Aac	p.D1556N	WIZ_ENST00000599910.1_Missense_Mutation_p.D873N|WIZ_ENST00000545156.1_Missense_Mutation_p.D870N|WIZ_ENST00000263381.6_Missense_Mutation_p.D699N|WIZ_ENST00000599686.2_Missense_Mutation_p.D740N			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1556						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGCTGTAGGTCATTGGTGTCC	0.657000													22	38					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100205590	100205590	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:100205590G>C	ENST00000209668.2	-	5	646	c.533C>G	c.(532-534)tCa>tGa	p.S178*	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	178					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ATAACCAGTTGAAAATCCACA	0.458000													28	71					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170955749	170955749	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:170955749G>T	ENST00000367759.4	+	10	931	c.777G>T	c.(775-777)caG>caT	p.Q259H	MROH9_ENST00000367758.3_Missense_Mutation_p.Q259H	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		ACTTTGTGCAGAGTCTCCTGA	0.453000													19	58					1.00905e-13	1.07353e-13	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32463255	32463255	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:32463255C>T	ENST00000404025.2	-	7	2955	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	NLRC4_ENST00000342905.6_Missense_Mutation_p.E158K|NLRC4_ENST00000402280.1_Missense_Mutation_p.E823K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E823K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	823					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAATTTCTTCAAGGTCACAG	0.403000													46	90					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115120855	115120855	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:115120855C>T	ENST00000349155.2	-	1	1114	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	TBX3_ENST00000257566.3_Missense_Mutation_p.A51T	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	51					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGCGCCGCCGCGCCGTTGGGA	0.721000													14	58					0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19905518	19905518	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:19905518C>G	ENST00000443905.2	-	4	1325	c.1178G>C	c.(1177-1179)gGa>gCa	p.G393A	ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.G393A|ZNF506_ENST00000450683.2_Missense_Mutation_p.G361A|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CGGTTTCTCTCCAGTATGAAT	0.378000													20	55					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89327638	89327638	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:89327638G>C	ENST00000338104.6	+	10	971	c.919G>C	c.(919-921)Gaa>Caa	p.E307Q	TTC8_ENST00000536576.1_Missense_Mutation_p.E52Q|TTC8_ENST00000380656.2_Missense_Mutation_p.E291Q|TTC8_ENST00000346301.4_Missense_Mutation_p.E251Q|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000358622.5_Missense_Mutation_p.E93Q|TTC8_ENST00000345383.5_Missense_Mutation_p.E281Q			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	317					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GTTTCCAGGAGAAGTAACCCT	0.299000													22	35					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112454	59112454	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:59112454G>A	ENST00000395153.3	+	4	1149	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	DACT1_ENST00000335867.4_Silent_p.L371L|DACT1_ENST00000541264.2_Silent_p.L90L|DACT1_ENST00000556859.1_Silent_p.L90L|DACT1_ENST00000395151.3_Silent_p.L90L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	371					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAGGGCTTCTGAGGAACGGGA	0.552000													23	61					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	146					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160709782	160709782	+	Splice_Site	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:160709782A>G	ENST00000263636.4	-	20	2771		c.e20+1		LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AATTAACTTTACCGATAAGCC	0.353000													16	47					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61149497	61149497	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:61149497G>C	ENST00000295025.7	+	11	2007	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	REL_ENST00000394479.3_Missense_Mutation_p.E531Q	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	563					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGATGCATTTGAGGGATCTGA	0.423000			A		Hodgkin Lymphoma								38	78					0	0	1	0	0
RP11-5A19.5	0	broad.mit.edu	37	16	67197675	67197675	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:67197675C>G	ENST00000580114.1	+	1	388	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	RP11-5A19.5_ENST00000518753.1_3'UTR|FBXL8_ENST00000519917.1_Silent_p.L359L|HSF4_ENST00000264009.8_5'UTR|HSF4_ENST00000421453.1_5'UTR|FBXL8_ENST00000258200.3_Silent_p.L359L																							CCTATACCCTCAAGCTCACGC	0.682000													17	36					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32956042	32956042	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:32956042G>T	ENST00000321639.5	+	5	1215	c.887G>T	c.(886-888)gGc>gTc	p.G296V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	296						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGGGCCAGGGCCCCTTGGAG	0.612000													32	107					6.53348e-20	7.0981e-20	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55715379	55715379	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:55715379C>G	ENST00000376350.3	-	5	679	c.657G>C	c.(655-657)caG>caC	p.Q219H	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	219	Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGCTGGTGGTCTGAGCCTCCA	0.547000													22	78					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132887678	132887678	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:132887678C>A	ENST00000370818.3	-	3	1308	c.863G>T	c.(862-864)gGt>gTt	p.G288V	GPC3_ENST00000394299.2_Missense_Mutation_p.G288V|GPC3_ENST00000543339.1_Missense_Mutation_p.G234V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	288						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTCCACCACACCTGCCATACA	0.468000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				9	171					1.76689e-08	1.83852e-08	1	1	0
MED29	55588	broad.mit.edu	37	19	39882005	39882005	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:39882005G>A	ENST00000315588.5	+	1	55	c.6G>A	c.(4-6)ctG>ctA	p.L2L		NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TAGGGATGCTGAAAAGCAACG	0.572000													9	28					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67696303	67696303	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:67696303C>A	ENST00000545606.1	+	8	1638	c.1201C>A	c.(1201-1203)Ctt>Att	p.L401I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	401					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATACCTTTCTCTTTTGAAGCA	0.433000													51	88					1.21353e-23	1.32542e-23	1	1	0
EML3	256364	broad.mit.edu	37	11	62374473	62374473	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62374473C>T	ENST00000394773.2	-	12	1768	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	EML3_ENST00000494176.2_Silent_p.R459R|EML3_ENST00000531557.1_Silent_p.R270R|EML3_ENST00000529309.1_Silent_p.R487R|EML3_ENST00000278845.4_Silent_p.R488R|EML3_ENST00000438258.1_5'UTR	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	487						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGAAGGGCTCCGCCCCCAGG	0.542000													20	48					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13910431	13910431	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:13910431C>A	ENST00000294489.6	+	1	472	c.131C>A	c.(130-132)tCc>tAc	p.S44Y	PDPN_ENST00000376057.4_Missense_Mutation_p.S44Y			Q86YL7	PDPN_HUMAN	podoplanin	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCGTCGCGCTCCTCCAGGCTG	0.657000													16	32					1.99824e-07	2.05495e-07	1	1	0
SPANXC	64663	broad.mit.edu	37	X	140335792	140335792	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:140335792A>T	ENST00000358993.2	-	2	190	c.152T>A	c.(151-153)cTa>cAa	p.L51Q		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	51						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					GCGAACCACTAGTATGGTCGA	0.507000													17	120					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97263142	97263142	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:97263142C>T	ENST00000523821.1	-	4	788	c.669G>A	c.(667-669)ctG>ctA	p.L223L	MTERFD1_ENST00000524341.1_Silent_p.L33L|MTERFD1_ENST00000522822.1_Silent_p.L102L|MTERFD1_ENST00000287025.3_Silent_p.L223L			Q96E29	MTER1_HUMAN	MTERF domain containing 1	223					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ACCTGGTCTTCAGATTTTCAA	0.358000													17	45					0	0	1	0	0
CXorf56	63932	broad.mit.edu	37	X	118675309	118675309	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:118675309C>G	ENST00000320339.4	-	6	712	c.441G>C	c.(439-441)aaG>aaC	p.K147N	CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000536133.1_Missense_Mutation_p.K182N|CXorf56_ENST00000486230.1_Missense_Mutation_p.K196N|CXorf56_ENST00000371594.4_Missense_Mutation_p.K196N|CXorf56_ENST00000476164.1_Missense_Mutation_p.K196N	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	196							protein binding			cervix(1)|endometrium(2)|lung(7)	10						GCAGTCGCCTCTTGCTCATGC	0.493000													30	104					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	274962	274962	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:274962C>G	ENST00000538872.1	+	11	2995	c.2877C>G	c.(2875-2877)ttC>ttG	p.F959L	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.F959L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.F656L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	959	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGCTGCATTTCTGTGCCCTGG	0.587000													22	47					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57320617	57320617	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:57320617C>G	ENST00000361249.3	+	1	139	c.43C>G	c.(43-45)Cag>Gag	p.Q15E		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	15					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GATGACTTGTCAGCCTGGGGT	0.453000													5	23					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67576890	67576890	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:67576890C>T	ENST00000478722.1	+	14	2448	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.R410W|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000543237.1_Missense_Mutation_p.R456W	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACAAGTCATGCGGGTTACAAC	0.453000			T	MLL	AL								5	139					0	0	1	0	0
SCO1	6341	broad.mit.edu	37	17	10600743	10600743	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:10600743C>G	ENST00000255390.5	-	1	142	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	SCO1_ENST00000577427.1_Missense_Mutation_p.E28Q	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	28					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CCCCAAAACTCGAGTCCGCGA	0.667000													11	10					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600501	31600501	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31600501G>A	ENST00000376033.2	+	16	4285	c.4051G>A	c.(4051-4053)Gtg>Atg	p.V1351M	PRRC2A_ENST00000376007.4_Missense_Mutation_p.V1351M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1351	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACCCAAGGCTGTGGGAACTCC	0.582000													38	104					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122288293	122288293	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:122288293C>G	ENST00000296161.4	+	3	1546	c.1357C>G	c.(1357-1359)Ctt>Gtt	p.L453V	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	453					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAGAGAAGTTCTTTTACTGAA	0.403000													41	113					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155510018	155510018	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:155510018C>T	ENST00000302053.3	-	3	369	c.291G>A	c.(289-291)aaG>aaA	p.K97K	FGA_ENST00000403106.3_Silent_p.K97K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	97					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTATTGTTCTTCTGATATT	0.333000													35	75					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632625	205632625	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:205632625C>T	ENST00000367145.3	-	3	589	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	98					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAAGAGGCTCAGCAGGATGC	0.677000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								13	42					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3790493	3790493	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:3790493C>T	ENST00000262367.5	-	24	4849	c.4040G>A	c.(4039-4041)cGg>cAg	p.R1347Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1309Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1347	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATTCTGGCGCCGCAAAAATTT	0.567000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						20	56					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483580	19483580	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:19483580G>C	ENST00000507958.1	-	14	2702	c.1712C>G	c.(1711-1713)tCt>tGt	p.S571C	CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.S571C|CDH18_ENST00000274170.4_Missense_Mutation_p.S571C			Q13634	CAD18_HUMAN	cadherin 18, type 2	571	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCACCATCAGAGATCATAAT	0.507000													12	28					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12089293	12089293	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:12089293C>T	ENST00000343949.5	+	4	718	c.563C>T	c.(562-564)tCa>tTa	p.S188L	ZNF763_ENST00000545530.1_Missense_Mutation_p.S63L|ZNF763_ENST00000538752.1_Missense_Mutation_p.S205L|ZNF763_ENST00000590798.1_Missense_Mutation_p.S205L|ZNF763_ENST00000358987.3_Missense_Mutation_p.S185L	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATTTCCCATTCAGGCATTCGA	0.413000													45	125					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60881334	60881334	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:60881334G>T	ENST00000253003.2	+	4	458	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	138	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TGGGGCGCTGGGGGCCAGCGG	0.597000													44	132					1.48734e-19	1.61303e-19	1	1	0
PLRG1	5356	broad.mit.edu	37	4	155457852	155457852	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:155457852C>G	ENST00000499023.2	-	15	1656	c.1530G>C	c.(1528-1530)aaG>aaC	p.K510N	PLRG1_ENST00000393905.2_Missense_Mutation_p.K510N|PLRG1_ENST00000302078.5_Missense_Mutation_p.K501N	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	510						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				ATCTCTTTCTCTTGATAATTT	0.279000													15	21					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17213220	17213220	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:17213220G>A	ENST00000595618.1	+	2	845	c.693G>A	c.(691-693)gtG>gtA	p.V231V	MYO9B_ENST00000397274.2_Silent_p.V231V|MYO9B_ENST00000594824.1_Silent_p.V231V|MYO9B_ENST00000593411.1_3'UTR	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	231	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGAAGCGCGTGAACCAGTGCA	0.607000													32	67					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169707858	169707858	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:169707858G>A	ENST00000444448.2	+	13	1446	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E267K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E189K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E239K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E189K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E239K|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E324K			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	267					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TGTAATGGAAGAAACTGCAAT	0.373000													12	33					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153587740	153587740	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153587740C>G	ENST00000422373.1	-	25	4425	c.4177G>C	c.(4177-4179)Gag>Cag	p.E1393Q	FLNA_ENST00000360319.4_Missense_Mutation_p.E1393Q|FLNA_ENST00000369850.3_Missense_Mutation_p.E1393Q|FLNA_ENST00000344736.4_Missense_Mutation_p.E1393Q	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1393					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGGGCCCTCTACAGCCAGG	0.647000													82	187					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	383734	383734	+	Missense_Mutation	SNP	G	G	C	rs116736772	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:383734G>C	ENST00000256509.2	+	7	1290	c.648G>C	c.(646-648)caG>caC	p.Q216H	CHL1_ENST00000397491.2_Missense_Mutation_p.Q216H	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	216	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTATTGTACAGAAAATGCCAA	0.383000													7	23					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046559	17046559	+	RNA	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:17046559C>A	ENST00000492551.1	-	0	93					NR_026567.1																						GCGGTGGGATCCCCACCGCCA	0.607000													20	176					1.64113e-05	1.67097e-05	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52200305	52200305	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:52200305G>A	ENST00000354534.5	+	27	5213	c.5035G>A	c.(5035-5037)Gag>Aag	p.E1679K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1638K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1679					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGTGAAGCACGAGGCTGGTAT	0.478000													71	54					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029484	32029484	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:32029484C>G	ENST00000375244.3	-	21	7383	c.7182G>C	c.(7180-7182)gaG>gaC	p.E2394D	TNXB_ENST00000375247.2_Missense_Mutation_p.E2394D			P22105	TENX_HUMAN	tenascin XB	2454	Fibronectin type-III 16.				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						GGCTGGGGGTCTCTTCCTCTG	0.617000													29	78					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27003401	27003401	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:27003401G>A	ENST00000314616.6	+	7	1133	c.850G>A	c.(850-852)Gat>Aat	p.D284N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D284N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	284					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCACCTCACAGATCAGGACAA	0.507000													31	95					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1192678	1192678	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:1192678G>A	ENST00000397203.2	+	3	1424	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	ERC1_ENST00000543086.3_Missense_Mutation_p.E340K|ERC1_ENST00000360905.4_Missense_Mutation_p.E340K|ERC1_ENST00000546231.2_Missense_Mutation_p.E340K|ERC1_ENST00000589028.1_Missense_Mutation_p.E340K|ERC1_ENST00000355446.5_Missense_Mutation_p.E340K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	340					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGCAGAGGCAGAGATGCACGT	0.428000													35	96					0	0	1	0	0
DNAL4	10126	broad.mit.edu	37	22	39176933	39176933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:39176933C>A	ENST00000216068.4	-	3	395	c.151G>T	c.(151-153)Gag>Tag	p.E51*	DNAL4_ENST00000486019.1_Intron|DNAL4_ENST00000406199.3_Nonsense_Mutation_p.E51*|SUN2_ENST00000406622.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	51					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity			lung(1)|skin(1)	2	Melanoma(58;0.04)					GGCAATACCTCGTTGTTGTTG	0.572000													13	40					2.27111e-07	2.33167e-07	1	1	0
SLC12A1	6557	broad.mit.edu	37	15	48566825	48566825	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:48566825C>G	ENST00000396577.3	+	20	2675	c.2460C>G	c.(2458-2460)gaC>gaG	p.D820E	SLC12A1_ENST00000558405.1_Missense_Mutation_p.D820E|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D820E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	820					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGGATTTGACATCTCTCAGG	0.393000													13	19					0	0	1	0	0
ESD	2098	broad.mit.edu	37	13	47356861	47356861	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:47356861C>T	ENST00000378720.3	-	6	504	c.322G>A	c.(322-324)Gat>Aat	p.D108N	ESD_ENST00000378697.1_Missense_Mutation_p.D79N|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	108						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TCAGTGGCATCAACATAAAAT	0.383000													32	77					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143927842	143927842	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:143927842G>C	ENST00000220940.1	+	4	303	c.213G>C	c.(211-213)aaG>aaC	p.K71N		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	71	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTGTTTATAAGAACTGTACAA	0.348000													23	50					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169752	42169752	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:42169752G>T	ENST00000373135.3	+	19	2435	c.2303G>T	c.(2302-2304)aGt>aTt	p.S768I	L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.S836I|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S836I|L3MBTL1_ENST00000373134.1_3'UTR	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGCTTTGCCAGTGATAGTCAA	0.378000													35	77					2.42023e-17	2.60185e-17	1	1	0
PZP	5858	broad.mit.edu	37	12	9303306	9303306	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:9303306G>A	ENST00000261336.2	-	34	4346	c.4318C>T	c.(4318-4320)Ctg>Ttg	p.L1440L	PZP_ENST00000381997.2_Silent_p.L1226L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATGTCTTGCAGAACCATGAAG	0.393000													22	59					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10223795	10223795	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:10223795G>T	ENST00000418404.3	-	24	3293	c.3130C>A	c.(3130-3132)Cag>Aag	p.Q1044K	MYH13_ENST00000570743.1_Missense_Mutation_p.Q1044K|MYH13_ENST00000252172.4_Missense_Mutation_p.Q1044K|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1044					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCTTCTCCTGCTCTAAGGAA	0.493000													7	17					0.00198382	0.00200005	1	1	0
FAM120C	54954	broad.mit.edu	37	X	54099642	54099642	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:54099642C>T	ENST00000375180.2	-	16	3171	c.3115G>A	c.(3115-3117)Gca>Aca	p.A1039T	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1039										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTGATCAATGCGCCACTGTTT	0.458000													18	64					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139781638	139781638	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:139781638C>T	ENST00000297183.6	+	1	210	c.86C>T	c.(85-87)tCg>tTg	p.S29L	ANKHD1_ENST00000360839.2_Missense_Mutation_p.S29L|ANKHD1_ENST00000394722.3_Missense_Mutation_p.S29L|ANKHD1_ENST00000394723.3_Missense_Mutation_p.S29L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S29L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGGCCTCGGAGCCGCCT	0.726000													7	27					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45542754	45542754	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:45542754A>G	ENST00000361462.2	+	20	5495	c.5312A>G	c.(5311-5313)aAt>aGt	p.N1771S	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.N1718S			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1718							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACAATTTTAAATGAATTATGA	0.338000													10	13					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61190283	61190283	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:61190283C>G	ENST00000216513.4	-	1	569	c.510G>C	c.(508-510)gaG>gaC	p.E170D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	170						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGCTGTGGCTCTCGAGGATGC	0.692000													14	13					0	0	1	0	0
BTD	686	broad.mit.edu	37	3	15686777	15686777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:15686777G>T	ENST00000383778.4	+	4	1712	c.1354G>T	c.(1354-1356)Gga>Tga	p.G452*	BTD_ENST00000449107.1_Nonsense_Mutation_p.G474*|BTD_ENST00000303498.5_Nonsense_Mutation_p.G472*|BTD_ENST00000437172.1_Nonsense_Mutation_p.G474*			P43251	BTD_HUMAN	biotinidase	472					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						CGACACCTGTGGACAGGAAAT	0.517000													34	91					9.04072e-19	9.75321e-19	1	1	0
CLSTN1	22883	broad.mit.edu	37	1	9791371	9791371	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:9791371G>A	ENST00000377298.4	-	18	3433	c.2641C>T	c.(2641-2643)Cgg>Tgg	p.R881W	CLSTN1_ENST00000361311.4_Missense_Mutation_p.R871W|CLSTN1_ENST00000377288.3_Missense_Mutation_p.R862W|CLSTN1_ENST00000477264.1_5'UTR	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	881					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCGGATCCGAAATACCCCC	0.612000													28	90					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529877	80529877	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:80529877G>A	ENST00000295057.3	-	2	1724	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.A356A|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	356	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGCGTACACGGCGTCCAGGA	0.682000										HNSCC(69;0.2)			6	28					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71002428	71002428	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:71002428C>G	ENST00000396396.1	+	4	850	c.621C>G	c.(619-621)atC>atG	p.I207M	PGM5_ENST00000396392.1_Missense_Mutation_p.I207M|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	207					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTCGGACCATCTTTGACTTTC	0.428000													31	101					0	0	1	0	0
OLIG1	116448	broad.mit.edu	37	21	34442897	34442897	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:34442897G>A	ENST00000382348.1	+	1	448	c.345G>A	c.(343-345)cgG>cgA	p.R115R	AP000282.2_ENST00000420356.1_RNA|AP000282.2_ENST00000454622.1_RNA|OLIG1_ENST00000333063.5_Silent_p.R99R	NM_138983.2	NP_620450.2	Q8TAK6	OLIG1_HUMAN	oligodendrocyte transcription factor 1	115					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						GCCGCGAGCGGAAGCGCATGC	0.741000													5	19					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198225	101198225	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:101198225G>A	ENST00000294728.2	+	7	1878	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	VCAM1_ENST00000347652.2_Missense_Mutation_p.E501K|VCAM1_ENST00000370115.1_Missense_Mutation_p.E394K|VCAM1_ENST00000370119.4_Missense_Mutation_p.E531K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	593	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAAGGAAGTGGAATTAATTAT	0.348000													32	106					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363898	84363898	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:84363898G>C	ENST00000509231.1	-	1	156	c.77C>G	c.(76-78)tCa>tGa	p.S26*	SATL1_ENST00000395409.3_5'UTR|SATL1_ENST00000332921.5_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	81	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CATACCAAGTGAGTTTGTGCT	0.458000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	34					0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53377416	53377416	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:53377416C>T	ENST00000536120.1	-	5	847	c.30G>A	c.(28-30)ttG>ttA	p.L10L	ECHDC2_ENST00000358358.5_Silent_p.L56L|ECHDC2_ENST00000541281.1_Silent_p.L10L|ECHDC2_ENST00000371522.4_Silent_p.L56L|ECHDC2_ENST00000480312.2_5'UTR			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	56					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						AGACATTCCCCAAGGCATTGC	0.577000													22	62					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118175750	118175750	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:118175750C>G	ENST00000427715.2	+	9	1097	c.663C>G	c.(661-663)ttC>ttG	p.F221L	SLC30A8_ENST00000519688.1_Missense_Mutation_p.F221L|SLC30A8_ENST00000456015.2_Missense_Mutation_p.F270L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.F221L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	270					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TAAAGGACTTCTCCATCTTAC	0.413000													26	49					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258439	16258439	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:16258439C>T	ENST00000375759.3	+	11	5908	c.5704C>T	c.(5704-5706)Cgg>Tgg	p.R1902W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1902					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACAAGGCGCCGGAATGTAAG	0.502000													32	87					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642821	1642821	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:1642821G>C	ENST00000399682.1	-	1	547	c.503C>G	c.(502-504)tCa>tGa	p.S168*		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	228	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAACCTGAGGAGGAGCA	0.617000													89	254					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823652	114823652	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:114823652G>A	ENST00000315366.7	-	2	2444	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ARSJ_ENST00000541197.1_Silent_p.F526F	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	526						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CAGTTTTGTTGAACTGTGAGA	0.512000													13	38					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12089178	12089178	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:12089178C>G	ENST00000343949.5	+	4	603	c.448C>G	c.(448-450)Caa>Gaa	p.Q150E	ZNF763_ENST00000545530.1_Missense_Mutation_p.Q25E|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q167E|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q167E|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q147E	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATATAAGTGTCAACAACCTAA	0.413000													51	176					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11559946	11559946	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:11559946G>A	ENST00000252455.2	+	16	1732	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PRKCSH_ENST00000587327.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000592741.1_Missense_Mutation_p.E473K|PRKCSH_ENST00000591462.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000412601.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000589838.1_Missense_Mutation_p.E466K	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	466	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CATGAAGTATGAGCAAGGCAC	0.682000													25	65					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107834330	107834330	+	Missense_Mutation	SNP	G	G	A	rs104886099		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:107834330G>A	ENST00000328300.6	+	20	1452	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G403E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	403	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGATTTCCTGGAGAAAGGGGT	0.502000									Alport syndrome with Diffuse Leiomyomatosis				22	65					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760287	167760287	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:167760287G>C	ENST00000409195.1	+	2	384	c.295G>C	c.(295-297)Gat>Cat	p.D99H	XIRP2_ENST00000420519.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409728.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409756.2_Missense_Mutation_p.D99H|XIRP2_ENST00000409043.1_Missense_Mutation_p.D99H|XIRP2_ENST00000295237.9_Missense_Mutation_p.D99H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGAAGGAGGATTCCCTGAG	0.512000													15	59					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118175734	118175734	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:118175734C>G	ENST00000427715.2	+	9	1081	c.647C>G	c.(646-648)aCt>aGt	p.T216S	SLC30A8_ENST00000519688.1_Missense_Mutation_p.T216S|SLC30A8_ENST00000456015.2_Missense_Mutation_p.T265S|SLC30A8_ENST00000521243.1_Missense_Mutation_p.T216S	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	265					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGCACCATCACTATCTTAAAG	0.403000													29	55					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167753614	167753614	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:167753614G>A	ENST00000239587.5	+	3	314	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	76					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTTGATGGCGGAAGATGAACC	0.502000													20	66					0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99516950	99516950	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:99516950G>C	ENST00000355947.2	-	1	204	c.75C>G	c.(73-75)atC>atG	p.I25M	TRIM4_ENST00000349062.2_Missense_Mutation_p.I25M|TRIM4_ENST00000354241.5_Missense_Mutation_p.I25M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	25					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GGCCGCACTCGATGGACACCG	0.687000													3	9					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93540504	93540504	+	Silent	SNP	C	C	G	rs141696596	by1000genomes	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:93540504C>G	ENST00000394196.4	+	30	4824	c.3756C>G	c.(3754-3756)gtC>gtG	p.V1252V	CHD2_ENST00000557381.1_Silent_p.V1252V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1252					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTCGTGTCAAAGCTGCAC	0.388000													15	58					0	0	1	0	0
CD59	966	broad.mit.edu	37	11	33738937	33738937	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:33738937C>T	ENST00000395850.3	-	3	223	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	CD59_ENST00000415002.2_Missense_Mutation_p.A50T|CD59_ENST00000528700.1_Missense_Mutation_p.A50T|CD59_ENST00000534312.1_Missense_Mutation_p.A50T|CD59_ENST00000527577.1_Missense_Mutation_p.A50T|CD59_ENST00000533403.1_Missense_Mutation_p.A50T|CD59_ENST00000437761.2_Missense_Mutation_p.A50T|CD59_ENST00000426650.2_Missense_Mutation_p.A50T|CD59_ENST00000445143.2_Missense_Mutation_p.A50T|CD59_ENST00000351554.3_Missense_Mutation_p.A50T	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	50	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						ATGAGACACGCATCAAAATCA	0.448000													8	18					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46915517	46915517	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:46915517G>C	ENST00000218343.4	+	10	1775	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	PHF16_ENST00000397189.1_Missense_Mutation_p.E493Q	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		493					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AAGCAGACGAGAGAAGCTGAA	0.398000													11	36					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150322223	150322223	+	RNA	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:150322223C>G	ENST00000520773.1	-	0	1261																											GCCACATCCTCAAATGACACT	0.453000													13	71					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149678610	149678610	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:149678610C>G	ENST00000344229.3	+	11	1567	c.865C>G	c.(865-867)Caa>Gaa	p.Q289E	RNF13_ENST00000361785.6_Missense_Mutation_p.Q170E|RNF13_ENST00000392894.3_Missense_Mutation_p.Q289E	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	289					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGTTCCTTCTCAAGGCGATTC	0.423000													22	71					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48320414	48320414	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:48320414C>G	ENST00000376876.3	-	10	1593	c.750G>C	c.(748-750)caG>caC	p.Q250H	SLC38A5_ENST00000376875.1_Missense_Mutation_p.Q199H|SLC38A5_ENST00000317669.5_Missense_Mutation_p.Q250H			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	250					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTGTGAACATCTGGGCCTCAC	0.532000													6	35					0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23669456	23669456	+	Missense_Mutation	SNP	C	C	T	rs150280233	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:23669456C>T	ENST00000217423.3	-	1	221	c.151G>A	c.(151-153)Gcc>Acc	p.A51T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	51						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TCGCTGATGGCGAAGTGAAGG	0.592000													19	61					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347025	71347025	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:71347025C>A	ENST00000413702.1	+	4	852	c.564C>A	c.(562-564)acC>acA	p.T188T	MUC7_ENST00000304887.5_Silent_p.T188T|MUC7_ENST00000456088.1_Silent_p.T188T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	188	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACCAGAGACCACAGCTGCCC	0.587000													48	141					4.00472e-15	4.2754e-15	1	1	0
KRT78	196374	broad.mit.edu	37	12	53238402	53238402	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:53238402G>A	ENST00000359499.4	-	5	543	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	KRT78_ENST00000304620.4_Missense_Mutation_p.R288W			Q8N1N4	K2C78_HUMAN	keratin 78	288	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCCTCGTACCGGGCGCGGACC	0.632000													4	101					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116767027	116767027	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:116767027C>G	ENST00000375300.1	-	6	812	c.807G>C	c.(805-807)caG>caC	p.Q269H	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.Q110H|SIK3_ENST00000446921.2_Missense_Mutation_p.Q269H|SIK3_ENST00000292055.4_Missense_Mutation_p.Q211H|SIK3_ENST00000542607.1_Missense_Mutation_p.Q211H			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	211						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCGCAGATTCTGCAGTGTGC	0.507000													31	88					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465367	48465367	+	Silent	SNP	G	G	A	rs140603920	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:48465367G>A	ENST00000358536.4	-	3	923	c.654C>T	c.(652-654)ttC>ttT	p.F218F	PLXNB1_ENST00000358459.4_Silent_p.F218F|PLXNB1_ENST00000296440.6_Silent_p.F218F|PLXNB1_ENST00000456774.1_Silent_p.F218F|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	218	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCACTCACGAAGTGGTGGC	0.632000													15	33					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122172742	122172742	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:122172742G>C	ENST00000344337.6	-	6	715	c.539C>G	c.(538-540)tCa>tGa	p.S180*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	180	NLS binding site (major) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTCAAACTCTGAGCTGAGCAA	0.443000													15	41					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													3	28					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151754022	151754022	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:151754022C>G	ENST00000368822.1	-	3	799	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	TDRKH_ENST00000368823.1_Missense_Mutation_p.E56Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E56Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E56Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E56Q|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Missense_Mutation_p.E56Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	56	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGCATCTCTATCTCAATG	0.463000													18	65					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32915015	32915015	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:32915015G>C	ENST00000544455.1	+	11	6750	c.6523G>C	c.(6523-6525)Gag>Cag	p.E2175Q	BRCA2_ENST00000380152.3_Missense_Mutation_p.E2175Q	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2175					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTCACTTGTTGAGAACATTCA	0.323000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	28					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237349	33237349	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:33237349C>G	ENST00000401073.2	+	6	2639	c.2569C>G	c.(2569-2571)Cag>Gag	p.Q857E	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.Q809E|KIAA1522_ENST00000373480.1_Missense_Mutation_p.Q798E	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	798	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAAGCTCCCTCAGAAGGAACC	0.682000													11	31					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120954375	120954375	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:120954375C>G	ENST00000288532.6	-	3	609	c.569G>C	c.(568-570)aGa>aCa	p.R190T	COQ5_ENST00000445328.2_Intron	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	190					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCACCAGCTCTGTATCCTTG	0.428000													96	321					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58718244	58718244	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:58718244G>C	ENST00000326804.4	+	5	873	c.414G>C	c.(412-414)ctG>ctC	p.L138L	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L106L|ZNF274_ENST00000424679.2_Silent_p.L33L	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	138					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATGGAAGCCTGAGTGCAGATG	0.577000													8	22					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14334318	14334318	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:14334318G>C	ENST00000571589.1	+	10	1228	c.1056G>C	c.(1054-1056)caG>caC	p.Q352H	MKL2_ENST00000341243.5_Missense_Mutation_p.Q341H|MKL2_ENST00000318282.5_Missense_Mutation_p.Q352H|MKL2_ENST00000572567.1_Missense_Mutation_p.Q341H|MKL2_ENST00000573051.1_Missense_Mutation_p.Q301H|MKL2_ENST00000574045.1_Missense_Mutation_p.Q352H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	341					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAACTACCAGACCATCCTGC	0.527000													21	102					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38401877	38401877	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:38401877C>G	ENST00000207870.3	+	3	278	c.188C>G	c.(187-189)tCt>tGt	p.S63C	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	63					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		ACGGTCACTTCTCCAGTACTA	0.532000													19	83					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186418543	186418543	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:186418543C>T	ENST00000391997.2	-	2	136	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	PDC_ENST00000340129.5_Missense_Mutation_p.A17T	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	17					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		GTATGTGTGGCCTGTCCTTCA	0.313000													22	42					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129785590	129785590	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:129785590G>C	ENST00000421865.2	+	50	7197	c.7148G>C	c.(7147-7149)cGa>cCa	p.R2383P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2383	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTGCCACACGAGACCTGGTA	0.408000													50	140					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7412996	7412996	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:7412996C>T	ENST00000399429.3	-	32	2681	c.2541G>A	c.(2539-2541)gaG>gaA	p.E847E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	847	VWFA 2.				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)		TAGCCACCTTCTCCACCTTAT	0.483000													26	59					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33170440	33170440	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:33170440G>C	ENST00000374677.3	+	5	1276	c.903G>C	c.(901-903)gtG>gtC	p.V301V	SLC39A7_ENST00000374675.3_Silent_p.V301V|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	301						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGGGCCAGTGAGACCTCAGA	0.478000													15	33					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144875972	144875972	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:144875972C>G	ENST00000367545.3	+	48	7077	c.7077C>G	c.(7075-7077)ctC>ctG	p.L2359L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2359					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGCTCGACTCTATATTCTTC	0.418000													11	48					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105075066	105075066	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:105075066C>G	ENST00000428173.2	+	2	380	c.77C>G	c.(76-78)tCa>tGa	p.S26*	NRK_ENST00000536164.1_Nonsense_Mutation_p.S26*|NRK_ENST00000243300.9_Nonsense_Mutation_p.S26*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	26	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAATATTCTCACTAGATAAA	0.274000										HNSCC(51;0.14)			16	68					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								5	61					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043451	74043451	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:74043451G>C	ENST00000409561.1	+	3	2222	c.2101G>C	c.(2101-2103)Gag>Cag	p.E701Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	701								p.E701Q(1)|p.E671Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGCTGAAAAAGAGTGTACATC	0.493000													27	103					0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117699237	117699237	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:117699237G>C	ENST00000369458.3	-	3	482	c.404C>G	c.(403-405)tCt>tGt	p.S135C	VTCN1_ENST00000359008.4_Missense_Mutation_p.S138C|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_Missense_Mutation_p.S40C	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	135	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CTTGCCTTTAGAAGTGATGAT	0.403000													17	69					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53992089	53992089	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:53992089G>A	ENST00000396328.1	-	13	1862	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L	WDR72_ENST00000557913.1_Silent_p.L538L|WDR72_ENST00000559418.1_Silent_p.L551L|WDR72_ENST00000360509.5_Silent_p.L541L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	541										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAAGGTGAAGGAGAGCCACGG	0.443000													35	118					0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39369868	39369868	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:39369868G>A	ENST00000249396.7	-	16	1398	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	SIRT2_ENST00000392081.2_Missense_Mutation_p.S329L|SIRT2_ENST00000358931.5_3'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	366					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGGGGAAGCTGAAGTGCTGGG	0.647000													15	40					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10443927	10443927	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:10443927G>A	ENST00000397077.1	-	6	1078	c.503C>T	c.(502-504)aCg>aTg	p.T168M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.T168M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T168M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T168M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T168M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	168					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATTGAAGGCCGTGACCAGGAC	0.612000													67	238					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836960	23836960	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:23836960C>T	ENST00000359788.4	-	4	943	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	259					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCACATTCTTCACATTTGTAT	0.358000													26	45					0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555355	125555355	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:125555355G>C	ENST00000522532.1	+	2	176	c.129G>C	c.(127-129)ttG>ttC	p.L43F	NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000518008.1_Missense_Mutation_p.L43F|NDUFB9_ENST00000276689.3_Missense_Mutation_p.L43F			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	43					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	TTGCTTGTTTGATGAGAGCCC	0.448000													18	48					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20178619	20178619	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:20178619C>G	ENST00000524983.2	-	3	924	c.636G>C	c.(634-636)aaG>aaC	p.K212N	DBX1_ENST00000227256.3_Missense_Mutation_p.K212N			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	212					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K212N(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CCGCCAGCTTCTTGCGGTCGG	0.667000													10	44					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13721250	13721250	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:13721250G>C	ENST00000265104.4	-	71	12242	c.12138C>G	c.(12136-12138)atC>atG	p.I4046M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4046	AAA 6 (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)					ACAGGAGACAGATGAGTGGCG	0.498000									Kartagener syndrome				32	90					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110206655	110206655	+	Silent	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:110206655G>T	ENST00000538780.1	+	3	1637	c.921G>T	c.(919-921)acG>acT	p.T307T	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Silent_p.T307T|FAM222A-AS1_ENST00000541723.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	307																	GTGGGAGCACGGTGGCCAGCA	0.706000													3	3					6.4e-05	6.47499e-05	1	1	0
SCNN1B	6338	broad.mit.edu	37	16	23383141	23383141	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:23383141G>A	ENST00000343070.2	+	7	1265	c.1089G>A	c.(1087-1089)gtG>gtA	p.V363V	SCNN1B_ENST00000568923.1_Silent_p.V336V|SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000307331.5_Silent_p.V408V	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	363					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGTGCACCGTGAATGGTTCTG	0.602000													33	133					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856156	54856156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:54856156G>T	ENST00000333896.5	+	13	2231	c.1846G>T	c.(1846-1848)Gag>Tag	p.E616*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.E629*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	629					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCTGGCGGCTGAGCGCAGGGC	0.577000													47	123					2.46787e-29	2.71466e-29	1	1	0
SRCIN1	80725	broad.mit.edu	37	17	36704828	36704828	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:36704828C>T	ENST00000264659.7	-	17	3459	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1113K	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	951					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCGTCATCCTCGTCCTTGATG	0.672000													28	71					0	0	1	0	0
PNO1	56902	broad.mit.edu	37	2	68385190	68385190	+	Missense_Mutation	SNP	G	G	A	rs61735656	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:68385190G>A	ENST00000263657.2	+	1	215	c.124G>A	c.(124-126)Ggg>Agg	p.G42R		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	42						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						AGGAGAGGGCGGGGATGCGGG	0.692000													10	35					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828923	61828923	+	Missense_Mutation	SNP	A	A	T	rs142931189		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:61828923A>T	ENST00000280772.1	-	37	11907	c.11716T>A	c.(11716-11718)Tgt>Agt	p.C3906S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3906					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						ACATCTACACATGAAGAAGTA	0.403000													61	170					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29684058	29684058	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:29684058G>A	ENST00000358273.4	+	53	8202	c.7819G>A	c.(7819-7821)Gaa>Aaa	p.E2607K	NF1_ENST00000356175.3_Missense_Mutation_p.E2586K|NF1_ENST00000444181.2_Missense_Mutation_p.E400K|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2607					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTCTTGGATGAAGAAGTACT	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			60	118					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27948071	27948071	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:27948071C>T	ENST00000374005.3	-	5	715	c.428_splice	c.e5+1	p.E143_splice	FGR_ENST00000399173.1_Splice_Site_p.E143_splice|FGR_ENST00000374004.1_Splice_Site_p.E143_splice|FGR_ENST00000545953.1_Intron	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	143					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTACTTACTCTTCAGCTTGG	0.567000													10	48					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536008	1536008	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:1536008C>T	ENST00000447419.2	-	3	1394	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.A452T			Q96A99	PTX4_HUMAN	pentraxin 4, long	457	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCAGCATTGGCCAGCGTCAGG	0.637000													12	37					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588340	72588340	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:72588340A>G	ENST00000392620.1	+	3	517	c.155A>G	c.(154-156)cAt>cGt	p.H52R	CD300LD_ENST00000375352.1_Start_Codon_SNP_p.M1T|C17orf77_ENST00000328023.2_Missense_Mutation_p.H52R	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	52						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGACAGCCACATGGTCCTGTC	0.562000													22	43					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74054047	74054047	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:74054047C>G	ENST00000298198.4	-	11	1636	c.1325G>C	c.(1324-1326)gGa>gCa	p.G442A		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	442					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AACTGAAGTTCCACAGAGAAA	0.383000													26	81					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568511	99568511	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:99568511G>A	ENST00000331335.5	-	5	2479	c.2009C>T	c.(2008-2010)gCt>gTt	p.A670V	FILIP1L_ENST00000354552.3_Missense_Mutation_p.A670V|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A246V|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A430V|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A430V	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	670						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TAAAAATTGAGCTTTGTCTCG	0.373000													24	72					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23417451	23417451	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:23417451C>G	ENST00000307149.5	-	12	1793	c.1608G>C	c.(1606-1608)caG>caC	p.Q536H		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	536					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGTTATCTTTCTGGAGGTAAT	0.433000													57	130					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591337	81591337	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:81591337C>T	ENST00000356860.3	-	36	3177	c.2839G>A	c.(2839-2841)Gag>Aag	p.E947K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E959K|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.E159K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	959						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCCTCCATCTCAACTTGGGTG	0.478000													16	32					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62543912	62543912	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62543912C>A	ENST00000294168.3	+	3	405	c.204C>A	c.(202-204)ttC>ttA	p.F68L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	68					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TTGAGGACTTCAACAGGGCCC	0.572000													19	51					3.32936e-07	3.41245e-07	1	1	0
KIF13A	63971	broad.mit.edu	37	6	17772181	17772181	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:17772181C>T	ENST00000378814.5	-	36	4394	c.4395G>A	c.(4393-4395)aaG>aaA	p.K1465K	KIF13A_ENST00000259711.6_Silent_p.K1478K|KIF13A_ENST00000378826.2_Silent_p.K1478K|KIF13A_ENST00000378816.5_Silent_p.K1478K|KIF13A_ENST00000378843.2_Silent_p.K1465K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1478					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTATCCTTTTCTTATGCTCCT	0.463000													107	217					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388538	48388538	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:48388538G>A	ENST00000224600.4	-	1	2453	c.2340C>T	c.(2338-2340)atC>atT	p.I780I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	780	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCGCAGGTCGATCACCAGCG	0.612000													13	32					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121766480	121766480	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:121766480C>G	ENST00000393376.1	-	3	516	c.421G>C	c.(421-423)Gat>Cat	p.D141H	AASS_ENST00000417368.2_Missense_Mutation_p.D141H|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	141	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCTCTATGATCCACCATTTTC	0.408000													60	198					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58581184	58581184	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:58581184G>A	ENST00000317147.5	-	27	3988	c.3656C>T	c.(3655-3657)tCa>tTa	p.S1219L	CNOT1_ENST00000245138.4_Missense_Mutation_p.S70L|CNOT1_ENST00000569240.1_Missense_Mutation_p.S1214L|CNOT1_ENST00000441024.2_Missense_Mutation_p.S1219L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1219					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGCAGCAATGATTTCACATC	0.378000													24	75					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37606334	37606334	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:37606334G>A	ENST00000434837.2	-	15	3824	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	MDGA1_ENST00000297153.7_Silent_p.I886I|MDGA1_ENST00000505425.1_Silent_p.I882I	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	882	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACTGGGGCTGATGGGCACAT	0.627000													24	68					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205589294	205589294	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:205589294C>T	ENST00000357992.4	-	3	1219	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ELK4_ENST00000289703.4_Missense_Mutation_p.E294K	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GACAAATTCTCTGGAAGTTCC	0.443000			T	SLC45A3	prostate								56	134					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895260	56895260	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:56895260C>T	ENST00000301310.4	-	5	1684	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	ZNF582_ENST00000586929.1_Missense_Mutation_p.G509E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CCCATTACTTCCATTCATATG	0.398000													43	86					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40626086	40626086	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:40626086C>G	ENST00000298910.7	+	3	306	c.248C>G	c.(247-249)tCa>tGa	p.S83*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.S83*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	83					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGGGTTGGTCACTTCTGTGC	0.388000													18	47					0	0	1	0	0
GAL	51083	broad.mit.edu	37	11	68455511	68455511	+	Missense_Mutation	SNP	G	G	A	rs149894151		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:68455511G>A	ENST00000265643.3	+	4	424	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	56					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		GTCATTCAGCGACAAGAATGG	0.592000													12	48					0	0	1	0	0
ARL13A	392509	broad.mit.edu	37	X	100240808	100240808	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:100240808G>A	ENST00000450049.2	+	4	396	c.283G>A	c.(283-285)Gtc>Atc	p.V95I		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	95							GTP binding			endometrium(1)|ovary(1)	2						GCTTGTTTTCGTCCTGGATTC	0.468000													14	42					0	0	1	0	0
TM4SF18	116441	broad.mit.edu	37	3	149042734	149042734	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:149042734G>C	ENST00000296059.2	-	4	608	c.343C>G	c.(343-345)Ctt>Gtt	p.L115V	TM4SF18_ENST00000470080.1_Missense_Mutation_p.L115V|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	115						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CCTTGGACAAGACCCAAGGCA	0.473000													15	44					0	0	1	0	0
EGFL8	80864	broad.mit.edu	37	6	32133980	32133980	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:32133980G>A	ENST00000395512.1	+	2	143	c.38G>A	c.(37-39)gGa>gAa	p.G13E	PPT2_ENST00000437001.2_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.G13E|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	13						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CTCTTAGGCGGATTCTCCTTC	0.597000													23	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485937	179485937	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:179485937C>T	ENST00000589042.1	-	246	45732	c.45508G>A	c.(45508-45510)Gat>Aat	p.D15170N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6230N|TTN_ENST00000460472.2_Missense_Mutation_p.D6105N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12602N|TTN_ENST00000591111.1_Missense_Mutation_p.D13529N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6297N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13529	Fibronectin type-III 10.						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)			TTTTTACCATCAGCAATAACG	0.443000													17	33					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892385	2892385	+	Missense_Mutation	SNP	G	G	C	rs142546371		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:2892385G>C	ENST00000254528.3	+	4	2419	c.2260G>C	c.(2260-2262)Gac>Cac	p.D754H		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	754					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCATTCCAGAGACATTTCTGG	0.488000													26	46					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517146	20517146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:20517146C>A	ENST00000375099.3	+	2	176	c.92C>A	c.(91-93)tCa>tAa	p.S31*		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	31										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CAGCCAAACTCACTAAATATG	0.522000													37	87					9.04072e-19	9.75321e-19	1	1	0
HLA-B	3106	broad.mit.edu	37	6	31324862	31324862	+	Splice_Site	SNP	C	C	G	rs45624240		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31324862C>G	ENST00000412585.2	-	1	102		c.e1+1			NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCGCACTCACCGGCCCAGGT	0.731000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				24	10					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791652	44791652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:44791652G>A	ENST00000291182.4	-	5	2038	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGAATTATCTGATGGACTTGA	0.468000													44	112					0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13333884	13333884	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:13333884C>G	ENST00000396920.3	-	5	790	c.386G>C	c.(385-387)gGa>gCa	p.G129A	PHYH_ENST00000263038.4_Missense_Mutation_p.G148A|PHYH_ENST00000396913.2_Missense_Mutation_p.G48A			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	148					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	AATATTAGGTCCAGTGAAGCA	0.333000													16	25					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046848	32046848	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:32046848C>T	ENST00000375244.3	-	11	4538	c.4337G>A	c.(4336-4338)gGg>gAg	p.G1446E	TNXB_ENST00000375247.2_Missense_Mutation_p.G1446E			P22105	TENX_HUMAN	tenascin XB	1533					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						CACGCGCTGCCCCTCGTGGAG	0.687000													55	24					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949403	27949403	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:27949403C>T	ENST00000379992.2	-	6	1716	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	LINGO2_ENST00000308675.3_Missense_Mutation_p.D423N	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	423	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCCCTTCATCTACTAGCAGA	0.483000													26	71					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86057663	86057663	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:86057663G>C	ENST00000414626.2	+	18	3845	c.2956G>C	c.(2956-2958)Gaa>Caa	p.E986Q	LRRCC1_ENST00000360375.3_Missense_Mutation_p.E1006Q			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	1006					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACTTTTGGAAGAAACATGCAA	0.274000													5	17					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412344	139412344	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139412344C>A	ENST00000277541.6	-	8	1376	c.1301G>T	c.(1300-1302)gGc>gTc	p.G434V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	434	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCGAAGGAGCCCAGCGTGTT	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			22	46					1.10513e-12	1.17171e-12	1	1	0
ANKH	56172	broad.mit.edu	37	5	14713736	14713736	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:14713736C>A	ENST00000284268.6	-	10	1512	c.1182G>T	c.(1180-1182)ctG>ctT	p.L394L	ANKH_ENST00000535119.1_Silent_p.L196L	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	394					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGTTTTCTTCAGTGTCATCA	0.607000													11	55					0.000673444	0.000680068	1	1	0
OR2T1	26696	broad.mit.edu	37	1	248570303	248570303	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:248570303C>T	ENST00000366474.1	+	1	1008	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	336					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			CCATGCTGAACCCCCTCATCT	0.522000													61	140					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513625	142513625	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:142513625G>A	ENST00000378004.3	+	19	2147	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E598K	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	598	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCTGCAGCGAGAGGCCCCT	0.562000													53	111					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222967	5222967	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:5222967C>T	ENST00000372412.4	-	18	3072	c.2839G>A	c.(2839-2841)Gtc>Atc	p.V947I	PTPRS_ENST00000588012.1_Missense_Mutation_p.V924I|PTPRS_ENST00000357368.4_Missense_Mutation_p.V946I|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.V924I|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.V942I|PTPRS_ENST00000587303.1_Missense_Mutation_p.V946I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	946	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGGAGAAGGACGGTCCCGGCC	0.746000													3	4					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19278268	19278268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:19278268C>A	ENST00000562034.1	+	6	4910	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	SYT17_ENST00000568433.1_Nonsense_Mutation_p.S126*|SYT17_ENST00000562711.2_Nonsense_Mutation_p.S428*|SYT17_ENST00000355377.2_Nonsense_Mutation_p.S432*			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	432	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CAGTACTCTTCAGGCCCCTCT	0.602000													16	36					1.15088e-07	1.18751e-07	1	1	0
KDR	3791	broad.mit.edu	37	4	55953828	55953828	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:55953828T>C	ENST00000263923.4	-	27	3903	c.3608A>G	c.(3607-3609)gAg>gGg	p.E1203G	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1203					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCTCCTCCTCCATACAGGA	0.488000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			12	47					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34262945	34262945	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:34262945G>A	ENST00000262622.3	+	4	1010	c.252G>A	c.(250-252)ccG>ccA	p.P84P	CHST8_ENST00000438847.2_Silent_p.P84P|CHST8_ENST00000434302.1_Silent_p.P84P	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	84					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GTGGGGCCCCGAGGGGCCGCA	0.667000													22	62					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58160730	58160730	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:58160730G>C	ENST00000228606.4	-	1	304	c.95C>G	c.(94-96)tCa>tGa	p.S32*	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	32					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCGGCGTGCTGAGTGGTACTC	0.642000													42	185					0	0	1	0	0
TAMM41	132001	broad.mit.edu	37	3	11871286	11871286	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:11871286C>G	ENST00000444133.2	-	4	606	c.464G>C	c.(463-465)aGa>aCa	p.R155T	TAMM41_ENST00000455809.1_Missense_Mutation_p.R155T|TAMM41_ENST00000273037.5_Missense_Mutation_p.R155T			Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	155					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											CTTCAGATTTCTATCGAGGGC	0.443000													44	85					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934940	9934940	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:9934940C>T	ENST00000396573.2	-	7	1659	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.M450I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M450I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M450I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M293I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M450I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	450					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|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)	TCTTCACATTCATCCCCTCAT	0.418000													22	57					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135267530	135267530	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:135267530C>T	ENST00000334270.2	-	6	1959	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	640	Myb-like 1.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CACCAATCGTCTTCCAGTCAT	0.493000													9	29					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53225148	53225148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:53225148C>A	ENST00000452825.3	-	18	3401	c.2869G>T	c.(2869-2871)Gag>Tag	p.E957*	KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E1023*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E1024*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E983*|KDM5C_ENST00000375401.3_Nonsense_Mutation_p.E1024*	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1024					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCAAGAGCCTCCTTGAGAGCC	0.567000			"""N, F, S"""		clear cell renal carcinoma								7	14					0.0293803	0.0295724	1	1	0
USP48	84196	broad.mit.edu	37	1	22056206	22056206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:22056206G>A	ENST00000308271.9	-	10	1939	c.1291C>T	c.(1291-1293)Caa>Taa	p.Q431*	USP48_ENST00000400301.1_Nonsense_Mutation_p.Q431*|USP48_ENST00000421625.2_Nonsense_Mutation_p.Q431*|USP48_ENST00000529637.1_Nonsense_Mutation_p.Q430*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	431					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CCTGGAACTTGAACAGTAGTG	0.373000													20	85					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220147	50220147	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:50220147C>A	ENST00000002829.3	+	9	1318	c.834C>A	c.(832-834)ttC>ttA	p.F278L	SEMA3F_ENST00000413852.1_Missense_Mutation_p.F179L|SEMA3F_ENST00000434342.1_Missense_Mutation_p.F247L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	278	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTTACTTCTTCTTCCGTGAGC	0.627000													27	93					5.61819e-17	6.02927e-17	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139413130	139413130	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139413130C>T	ENST00000277541.6	-	6	1087	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	338	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCACAGTCATCAATGTTC	0.632000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			13	28					0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101893723	101893723	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:101893723G>A	ENST00000295317.3	-	7	1287	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	394						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CCTCCATGCCGAGAGTCACTC	0.468000													10	24					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32087656	32087656	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:32087656C>T	ENST00000438447.1	+	20	4490	c.4102C>T	c.(4102-4104)Cat>Tat	p.H1368Y	PDZD2_ENST00000282493.3_Missense_Mutation_p.H1368Y			O15018	PDZD2_HUMAN	PDZ domain containing 2	1368					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACAGGAATCCATGCACCTGA	0.597000													9	34					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49230515	49230515	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:49230515G>C	ENST00000308025.3	-	10	1152	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	358						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.S358F(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTTTTCTGAGACCAATGACG	0.532000													56	183					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089285	43089285	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:43089285G>A	ENST00000401850.1	-	2	1162	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	A4GALT_ENST00000381278.3_Missense_Mutation_p.R225C|A4GALT_ENST00000249005.2_Missense_Mutation_p.R225C			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	225					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TCGTGCCGGCGCTCGAAGGCC	0.637000													16	38					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20619061	20619061	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:20619061G>C	ENST00000504154.1	+	36	4388		c.e36-1		SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTCCCTGTAGATGCGTACAT	0.493000													4	27					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183672970	183672970	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:183672970G>A	ENST00000511685.1	+	20	3770	c.3647G>A	c.(3646-3648)aGa>aAa	p.R1216K	TENM3_ENST00000406950.2_Missense_Mutation_p.R1216K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CCAGCTCATAGATACTACCTT	0.428000													31	93					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650102	75650102	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:75650102G>A	ENST00000361470.2	+	1	2057	c.1779G>A	c.(1777-1779)ctG>ctA	p.L593L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	593	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAATATTCCTGAATGGCAACC	0.502000													7	32					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50855032	50855032	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:50855032G>A	ENST00000398473.2	+	11	1348	c.1236G>A	c.(1234-1236)cgG>cgA	p.R412R	LARP4_ENST00000518561.1_Silent_p.R342R|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000522085.1_Silent_p.R412R|LARP4_ENST00000429001.3_Silent_p.R418R|LARP4_ENST00000347328.5_Silent_p.R341R|LARP4_ENST00000518444.1_Silent_p.R411R	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	412							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CAGCTGAACGGCATAACCCCA	0.488000													4	134					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33422991	33422991	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:33422991G>A	ENST00000395064.2	+	2	382	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGGAATCTCTGAACCGCCACA	0.587000													44	138					0	0	1	0	0
HCG27	253018	broad.mit.edu	37	6	31170541	31170541	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31170541C>T	ENST00000383331.4	+	2	516	c.516C>T	c.(514-516)gtC>gtT	p.V172V	HCG27_ENST00000415276.1_3'UTR																							TGTCCTCAGTCACCCTCTGAG	0.577000													51	147					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13975371	13975371	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:13975371C>T	ENST00000343495.5	-	7	1200	c.462G>A	c.(460-462)tcG>tcA	p.S154S	ETV1_ENST00000242066.5_Silent_p.S154S|ETV1_ENST00000405218.2_Silent_p.S172S|ETV1_ENST00000420159.2_Silent_p.S114S|ETV1_ENST00000403685.1_Silent_p.S154S|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405192.2_Silent_p.S172S|ETV1_ENST00000403527.1_Silent_p.S132S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Silent_p.S172S|ETV1_ENST00000405358.4_Silent_p.S186S			P50549	ETV1_HUMAN	ets variant 1	172					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTATGGACTGCGATGGAGGGA	0.498000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								4	161					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			12	43					6.31663e-08	6.55058e-08	1	1	0
IL1RL2	8808	broad.mit.edu	37	2	102805746	102805746	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:102805746C>T	ENST00000264257.2	+	3	395	c.269C>T	c.(268-270)tCa>tTa	p.S90L	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S90L	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	90	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGGGGGGACTCAGGAGTCTAC	0.343000													9	22					0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141385883	141385883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:141385883G>A	ENST00000508177.1	-	3	993	c.235C>T	c.(235-237)Cga>Tga	p.R79*	GNPDA1_ENST00000500692.2_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000311337.6_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000458112.2_Nonsense_Mutation_p.R45*|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000503794.1_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000513454.1_Nonsense_Mutation_p.R79*			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	79					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGTCTCGAGGAAGGCCT	0.537000													20	62					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167753592	167753592	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:167753592G>C	ENST00000239587.5	+	3	292		c.e3-1			NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2						protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCCATTTTTAGAAAAAACCTC	0.507000													23	63					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144135764	144135764	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:144135764G>C	ENST00000307017.4	+	9	3141	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q	USP38_ENST00000510377.1_Missense_Mutation_p.E879Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	879					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CCACCAGTCTGAGGCTCTGGC	0.418000													23	29					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367418	367418	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:367418G>A	ENST00000240499.7	+	4	1341	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	398					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CTACAAATGTGAAGAATGTGG	0.418000													41	96					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093484	40093484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:40093484G>T	ENST00000299092.3	-	4	1592	c.1394C>A	c.(1393-1395)tCa>tAa	p.S465*	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000543580.1_Nonsense_Mutation_p.S421*|GPR176_ENST00000561100.1_Nonsense_Mutation_p.S466*	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	466					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TCGGGTCTCTGAGAGCCACTG	0.582000													32	89					4.74835e-14	5.06053e-14	1	1	0
PSD	5662	broad.mit.edu	37	10	104163154	104163154	+	Missense_Mutation	SNP	G	G	A	rs142273937		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:104163154G>A	ENST00000020673.5	-	17	3404	c.2878C>T	c.(2878-2880)Cgg>Tgg	p.R960W	PSD_ENST00000406432.1_Missense_Mutation_p.R960W	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	960					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)		AGCTTGACCCGAAGCAGCGCT	0.632000													13	37					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50215191	50215191	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:50215191C>T	ENST00000392518.4	+	17	2364	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L	CPT1C_ENST00000598293.1_Silent_p.L664L|CPT1C_ENST00000323446.5_Silent_p.L664L|CPT1C_ENST00000405931.2_Silent_p.L653L|CPT1C_ENST00000354199.5_Intron	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	664					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCGATTCCTCCACCTGCAGT	0.607000													17	45					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6515340	6515340	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:6515340C>T	ENST00000361413.3	-	8	1802	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000572370.1_Missense_Mutation_p.E183K|KIAA0753_ENST00000542606.1_Missense_Mutation_p.E183K	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	482						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCTAACACCTCGTCTTTGAAG	0.463000													63	180					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11990454	11990454	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:11990454C>G	ENST00000356352.2	-	15	3561	c.3088G>C	c.(3088-3090)Gaa>Caa	p.E1030Q	UPF2_ENST00000357604.5_Missense_Mutation_p.E1030Q|UPF2_ENST00000397053.2_Missense_Mutation_p.E1030Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1030	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA 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)				tcatcctcttcaagattttct	0.358000													21	32					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86705816	86705816	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:86705816C>G	ENST00000409556.1	+	16	2639	c.2274C>G	c.(2272-2274)ttC>ttG	p.F758L	KDM3A_ENST00000542128.1_Missense_Mutation_p.F706L|KDM3A_ENST00000409064.1_Missense_Mutation_p.F758L|KDM3A_ENST00000312912.5_Missense_Mutation_p.F758L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	758					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACAGGCAATTCAAACTCTTTT	0.378000													11	51					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25935033	25935033	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:25935033C>T	ENST00000398988.3	+	17	2188	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	KSR1_ENST00000509603.2_Silent_p.I696I|KSR1_ENST00000319524.6_Silent_p.I718I|KSR1_ENST00000268763.6_Silent_p.I581I	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	716					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGGAGATCATCAAGGTGAGGG	0.597000													6	9					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736828	7736828	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:7736828C>G	ENST00000572933.1	+	86	14721	c.13261C>G	c.(13261-13263)Cta>Gta	p.L4421V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L4421V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4421					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)				GGGCACTGCTCTACTCATGAG	0.577000													14	42					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557145	214557145	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:214557145C>T	ENST00000366956.5	-	13	2247	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	685					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGGGGACCTCGTGGCTGCCT	0.642000													15	61					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121500541	121500541	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:121500541G>A	ENST00000305949.1	+	12	1353	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	436					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCATGGAAAGATGAAAACAA	0.358000													8	27					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67912285	67912285	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:67912285C>G	ENST00000358933.5	+	9	1266	c.1027C>G	c.(1027-1029)Cat>Gat	p.H343D	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	343					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTGGAAACCTCATGATGGGCG	0.617000													34	118					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10263367	10263367	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:10263367G>A	ENST00000280326.4	+	10	1859	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	CCT5_ENST00000506600.1_Missense_Mutation_p.R387K|CCT5_ENST00000515390.1_Missense_Mutation_p.R425K|CCT5_ENST00000515676.1_Missense_Mutation_p.R442K|CCT5_ENST00000503026.1_Missense_Mutation_p.R459K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	480					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GTCCGAGCCAGACAGGTGAAG	0.577000													20	45					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925636	114925636	+	Missense_Mutation	SNP	A	A	G	rs61724286		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:114925636A>G	ENST00000545257.1	+	15	2272	c.1765A>G	c.(1765-1767)Att>Gtt	p.I589V	TCF7L2_ENST00000543371.1_Missense_Mutation_p.I572V|TCF7L2_ENST00000542695.1_Missense_Mutation_p.I305V|TCF7L2_ENST00000369397.4_Missense_Mutation_p.I566V|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.I589V|TCF7L2_ENST00000536810.1_Missense_Mutation_p.I572V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	589					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTCCTCATCAATTGCACAGCC	0.642000			T	VTI1A	colorectal								29	83					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140021368	140021368	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:140021368C>T	ENST00000511410.1	+	3	392	c.317C>T	c.(316-318)tCa>tTa	p.S106L	TMCO6_ENST00000252100.6_Intron|TMCO6_ENST00000394671.3_Intron|TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron			Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	0					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCATCCGGTCAGTGTGGATG	0.597000													18	43					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2432468	2432468	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:2432468C>G	ENST00000325327.3	-	9	1598	c.1536G>C	c.(1534-1536)gaG>gaC	p.E512D	LMNB2_ENST00000582871.1_Missense_Mutation_p.E492D			Q03252	LMNB2_HUMAN	lamin B2	492	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		TGTAGGCGATCTCCTCCCCCT	0.627000													31	88					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017057	1017057	+	Missense_Mutation	SNP	G	G	C	rs71472140		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:1017057G>C	ENST00000421673.2	-	31	5794	c.5744C>G	c.(5743-5745)tCt>tGt	p.S1915C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1915	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGGGATGTAGAAGTTTTGGC	0.547000													94	945					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418836	55418836	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:55418836C>A	ENST00000312422.2	+	1	457	c.457C>A	c.(457-459)Cac>Aac	p.H153N		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	153					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)				TGGGTTCTTACACTCCATTAT	0.433000													80	171					9.59377e-39	1.0572e-38	1	1	0
C6orf106	64771	broad.mit.edu	37	6	34574664	34574664	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:34574664G>A	ENST00000374023.3	-	4	772	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	C6orf106_ENST00000374026.3_Missense_Mutation_p.L111F|C6orf106_ENST00000374021.1_Missense_Mutation_p.L103F	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	177										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TCCACACTGAGAATCACCCAG	0.453000													35	35					0	0	1	0	0
HOXC6	3223	broad.mit.edu	37	12	54422559	54422559	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:54422559C>T	ENST00000394331.3	+	2	1718	c.8C>T	c.(7-9)tCa>tTa	p.S3L	HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.S85L	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	85					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACATGCTCTCAAACTGCAGA	0.498000													55	151					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29912176	29912176	+	Splice_Site	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:29912176T>C	ENST00000396634.1	+	6	1236		c.e6+2		HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site			P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGAGATGGGGTAAGGAGGGAG	0.597000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			38	32					0	0	1	0	0
MGAT4B	11282	broad.mit.edu	37	5	179225171	179225171	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:179225171C>G	ENST00000337755.5	-	13	2548	c.1662G>C	c.(1660-1662)ctG>ctC	p.L554L	MGAT4B_ENST00000292591.7_Silent_p.L539L	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	539					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACCTCGCTCAGAATCACCC	0.677000													3	11					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138201248	138201248	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:138201248C>T	ENST00000237289.4	+	8	2013	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	649	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCACAGCGTCCAGGTTCCAGA	0.517000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								21	56					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58227442	58227442	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:58227442C>T	ENST00000300900.4	+	1	146	c.47C>T	c.(46-48)tCg>tTg	p.S16L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	16					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCGCGGCCATCGGCCAGTGCA	0.761000													9	19					0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673112	75673112	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:75673112G>A	ENST00000446342.1	+	5	864	c.382G>A	c.(382-384)Gag>Aag	p.E128K	C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.E145K|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Missense_Mutation_p.E109K	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	145	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GCTTGTCCAAGAGTGCATGGT	0.537000													32	96					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136834061	136834061	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:136834061C>T	ENST00000394945.1	-	2	356		c.e2+1		SPOCK1_ENST00000282223.7_Splice_Site	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1						cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGGTACTCACGTCTCGAAAG	0.647000													6	17					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90403841	90403841	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:90403841C>T	ENST00000369393.3	-	62	9948	c.9833G>A	c.(9832-9834)aGa>aAa	p.R3278K	MDN1_ENST00000428876.1_Missense_Mutation_p.R3278K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3278					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCAGGTCTCTTCCAGTCTG	0.468000													11	48					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150432736	150432736	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:150432736G>A	ENST00000401000.4	+	8	1341	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.D452N|RPRD2_ENST00000539519.1_Missense_Mutation_p.D426N			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	452							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGCTAATGTGGATCTGGCAAA	0.438000													9	22					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146033476	146033476	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:146033476G>C	ENST00000296577.4	+	9	1311	c.796G>C	c.(796-798)Gat>Cat	p.D266H	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	266	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AATAAATCCAGATAGGTAAGT	0.338000													5	7					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128827	3128827	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:3128827T>C	ENST00000380266.3	-	2	1211	c.890A>G	c.(889-891)gAc>gGc	p.D297G	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	297					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TTGCATTAGGTCCTGGGATAC	0.338000													22	65					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395680	31395680	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:31395680C>T	ENST00000328111.2	+	23	2854	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	DNMT3B_ENST00000353855.2_Missense_Mutation_p.P825S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P762S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P837S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P785L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P720S|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P686S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	845					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTTCGCCCCTCTGAAGGA	0.607000													34	122					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007718	131007718	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:131007718C>T	ENST00000307968.7	-	13	2334	c.2335G>A	c.(2335-2337)Gag>Aag	p.E779K	FNIP1_ENST00000307954.8_Missense_Mutation_p.E762K|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.E807K	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GTATCAGACTCTCCAGATTGG	0.418000													29	105					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100079383	100079383	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:100079383C>G	ENST00000375202.2	+	23	2316	c.964C>G	c.(964-966)Ctc>Gtc	p.L322V	CCDC180_ENST00000395220.1_Missense_Mutation_p.L461V|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.L461V|CCDC180_ENST00000411667.2_Missense_Mutation_p.L319V|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.L322V					coiled-coil domain containing 180																		CCGGAAGGCTCTCGCCCAGCT	0.622000													71	167					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38979979	38979979	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:38979979G>A	ENST00000355481.4	+	35	5841	c.5710G>A	c.(5710-5712)Gaa>Aaa	p.E1904K	RYR1_ENST00000360985.3_Missense_Mutation_p.E1904K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1904K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1904	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	acaggaaaaggaagatgagga	0.517000													23	47					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624563	53624563	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:53624563C>G	ENST00000219022.2	+	5	1268	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	397	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTTATTTATTCAACTGAAGCC	0.403000													50	112					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2164194	2164194	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:2164194G>A	ENST00000262304.4	-	11	3038	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C	PKD1_ENST00000423118.1_Missense_Mutation_p.R944C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	944	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCAGTACACGGGCCTCGGGG	0.701000													14	59					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8647848	8647848	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:8647848A>G	ENST00000293845.3	-	1	306	c.80T>C	c.(79-81)cTc>cCc	p.L27P	CCDC42_ENST00000539522.2_Missense_Mutation_p.L27P	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	27										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CACTCACTGGAGCATCTGCAG	0.622000													15	64					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204571443	204571443	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:204571443C>T	ENST00000374481.3	+	1	246	c.24C>T	c.(22-24)ctC>ctT	p.L8L	CD28_ENST00000324106.7_Silent_p.L8L|CD28_ENST00000458610.2_Intron|CD28_ENST00000374478.4_Silent_p.L8L			P10747	CD28_HUMAN	CD28 molecule	8					cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTTGGCTCTCAACTTATTCC	0.438000													16	50					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231193506	231193506	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:231193506G>C	ENST00000243810.6	+	2	67	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	SP140_ENST00000486687.2_Intron|SP140L_ENST00000396563.4_Missense_Mutation_p.E23Q|SP140L_ENST00000444636.1_Missense_Mutation_p.E23Q|SP140L_ENST00000415673.2_Missense_Mutation_p.E23Q			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	23						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						agtagcaaatgagatgaacca	0.383000													10	27					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86017661	86017661	+	Missense_Mutation	SNP	C	C	G	rs145994931		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:86017661C>G	ENST00000359452.4	+	6	693	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	215					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AAACACCACTCTGCCAGCAAG	0.562000													19	44					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121556	27121556	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:27121556C>T	ENST00000288699.6	+	2	347	c.189C>T	c.(187-189)atC>atT	p.I63I	DPYSL5_ENST00000401478.1_Silent_p.I63I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	63					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGGCATCGACACCAGCA	0.572000													25	39					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88315655	88315655	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:88315655G>C	ENST00000392844.3	+	5	391	c.343G>C	c.(343-345)Gat>Cat	p.D115H	ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.D62H|ORC3_ENST00000257789.4_Missense_Mutation_p.D115H	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	115					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CACAGATCATGATTTGACATT	0.313000													19	65					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1221325	1221325	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:1221325C>T	ENST00000326873.7	+	6	2021	c.848C>T	c.(847-849)tCt>tTt	p.S283F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	283	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGCTCTCTGACCTGCTG	0.627000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			8	17					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47259551	47259551	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:47259551C>T	ENST00000256996.4	+	8	1382	c.1188_splice	c.e8+1	p.S396_splice	DDB2_ENST00000378600.3_Splice_Site_p.S207_splice|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332_splice	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	396					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	p.S396L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GGCATCAGTTCGGTGAGGCTT	0.463000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				29	38					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050727	49050727	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:49050727G>A	ENST00000395474.3	+	2	2130	c.1850G>A	c.(1849-1851)cGt>cAt	p.R617H	WDR6_ENST00000448293.1_Missense_Mutation_p.R536H|WDR6_ENST00000415265.2_Missense_Mutation_p.R35H|WDR6_ENST00000489684.1_3'UTR	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	587					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCACAGGGCGTGATGGAGCC	0.587000													14	32					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16024960	16024960	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:16024960G>C	ENST00000505450.1	-	7	1358	c.746C>G	c.(745-747)tCc>tGc	p.S249C	PROM1_ENST00000447510.2_Missense_Mutation_p.S258C|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_Missense_Mutation_p.S258C|PROM1_ENST00000543373.1_Missense_Mutation_p.S249C|PROM1_ENST00000508167.1_Missense_Mutation_p.S249C|PROM1_ENST00000510224.1_Missense_Mutation_p.S258C|PROM1_ENST00000540805.1_Missense_Mutation_p.S258C	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	258					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGTTGCCATGGACTTAATCTC	0.473000													7	11					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626420	55626420	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:55626420G>A	ENST00000373965.2	-	28	4114	c.3720C>T	c.(3718-3720)agC>agT	p.S1240S	PCDH15_ENST00000320301.6_Silent_p.S1233S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.S1233S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Silent_p.S1211S|PCDH15_ENST00000437009.1_Silent_p.S1162S|PCDH15_ENST00000395432.2_Silent_p.S1196S|PCDH15_ENST00000395445.1_Silent_p.S1240S|PCDH15_ENST00000395438.1_Silent_p.S1233S|PCDH15_ENST00000361849.3_Silent_p.S1233S|PCDH15_ENST00000414778.1_Silent_p.S1238S|PCDH15_ENST00000409834.1_Silent_p.S844S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1233	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGGCTTTGCCGCTCAGTCCCT	0.408000										HNSCC(58;0.16)			14	39					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	140001200	140001200	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:140001200C>G	ENST00000371589.4	+	10	1578	c.1505C>G	c.(1504-1506)tCc>tGc	p.S502C	MAN1B1_ENST00000474902.1_Missense_Mutation_p.S205C|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	502					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CTGCGGCACTCCGAGCCCAGT	0.632000													15	57					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4135747	4135747	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:4135747C>G	ENST00000380118.3	-	1	84	c.48G>C	c.(46-48)ccG>ccC	p.P16P	ECI2_ENST00000361538.2_5'UTR|ECI2_ENST00000465828.1_5'UTR|RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000413766.2_5'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	16					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AAGCTTACCTCGGACACGAAC	0.692000													14	59					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081391	194081391	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:194081391C>G	ENST00000347624.3	-	2	467	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	LRRC15_ENST00000428839.1_Missense_Mutation_p.E134Q|LRRC15_ENST00000439944.2_Missense_Mutation_p.E134Q	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	128						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGAGAGACTCGAGGCTGTCC	0.612000													30	71					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268867	28268867	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:28268867C>G	ENST00000405948.2	+	7	1656	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	PGBD1_ENST00000259883.3_Silent_p.L412L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	412					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTTTGAATCTCAAGAGCGAAA	0.348000													40	77					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256285	52256285	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:52256285C>G	ENST00000597542.1	-	9	3076	c.2119G>C	c.(2119-2121)Gac>Cac	p.D707H	TLR9_ENST00000494383.1_Missense_Mutation_p.R836P|TLR9_ENST00000360658.2_Missense_Mutation_p.D683H			Q9NR96	TLR9_HUMAN	toll-like receptor 9	683					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCTGCCAGGTCGAGGACTTCC	0.597000													41	108					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129822945	129822945	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:129822945G>A	ENST00000338144.3	-	6	649	c.232C>T	c.(232-234)Cca>Tca	p.P78S	ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Missense_Mutation_p.P49S|ENOX2_ENST00000394363.1_Missense_Mutation_p.P49S|ENOX2_ENST00000370927.1_Missense_Mutation_p.P78S	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	78	Pro-rich.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGCATCATTGGAGTTATTGGT	0.428000													34	75					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149735	202149735	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:202149735C>G	ENST00000358485.4	+	8	1372	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	CASP8_ENST00000323492.7_Missense_Mutation_p.I318M|CASP8_ENST00000264274.9_Missense_Mutation_p.I249M|CASP8_ENST00000264275.5_Missense_Mutation_p.I350M|CASP8_ENST00000432109.2_Missense_Mutation_p.I333M|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	333					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCCCCCATCTATGAGCTGA	0.488000										HNSCC(4;0.00038)			43	101					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31508147	31508147	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31508147C>G	ENST00000417556.2	-	2	793	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	DDX39B_ENST00000415382.2_Missense_Mutation_p.Q50H|DDX39B_ENST00000396172.1_Missense_Mutation_p.E55Q|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Missense_Mutation_p.E55Q|DDX39B_ENST00000453105.2_Missense_Mutation_p.Q50H|DDX39B_ENST00000449074.2_Missense_Mutation_p.E55Q|DDX39B_ENST00000458640.1_Missense_Mutation_p.E55Q			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	55					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CGGAGCAACTCTGGCTTGAGC	0.537000													24	66					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38315005	38315005	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:38315005C>G	ENST00000425967.3	-	3	381	c.59G>C	c.(58-60)aGa>aCa	p.R20T	FGFR1_ENST00000447712.2_5'UTR|FGFR1_ENST00000397103.1_5'UTR|FGFR1_ENST00000397113.2_5'UTR|FGFR1_ENST00000356207.5_5'UTR|FGFR1_ENST00000341462.5_5'UTR|FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000532791.1_5'UTR|FGFR1_ENST00000397091.5_5'UTR|FGFR1_ENST00000326324.6_5'UTR|FGFR1_ENST00000397108.4_5'UTR	NM_001174067.1	NP_001167538.1	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	0					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGCTCCACATCTCCATGGATA	0.537000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						8	23					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123201043	123201043	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:123201043G>T	ENST00000528880.2	-	1	396	c.242C>A	c.(241-243)cCg>cAg	p.P81Q	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	81						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	CATCACGAACGGCAGGCAGAT	0.537000													18	34					2.35188e-11	2.47651e-11	1	1	0
MAP1S	55201	broad.mit.edu	37	19	17837872	17837872	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:17837872C>T	ENST00000324096.4	+	5	1830	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.P534L	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	560	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGGCGGCACCCAAGCCCCGC	0.687000													4	8					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32728184	32728184	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:32728184C>T	ENST00000421745.2	+	49	9514	c.9380C>T	c.(9379-9381)tCa>tTa	p.S3127L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3127					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTATGGTATCAACTATTATG	0.353000													9	14					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43823505	43823505	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:43823505G>A	ENST00000389420.3	-	24	3403	c.3404C>T	c.(3403-3405)tCa>tTa	p.S1135L	ADAMTS20_ENST00000395541.2_Intron|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S1135L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1135	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGAAATAAATGAGCAAGGTGT	0.343000													4	7					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47917923	47917923	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:47917923G>A	ENST00000276054.4	-	5	2470	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	ZNF630_ENST00000409324.3_Silent_p.F636F|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.F622F			Q2M218	ZN630_HUMAN	zinc finger protein 630	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CATGCTGGCAGAATGCCTTCC	0.443000													15	42					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63883006	63883006	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:63883006C>G	ENST00000268049.7	+	16	1802	c.1478C>G	c.(1477-1479)gCt>gGt	p.A493G	USP3_ENST00000540797.1_Missense_Mutation_p.A471G|USP3_ENST00000539772.1_Missense_Mutation_p.A266G|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.A515G|USP3_ENST00000559711.1_Missense_Mutation_p.A426G|USP3_ENST00000558285.1_Missense_Mutation_p.A498G|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	515					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CAGGCCAAAGCTGGATCGGAT	0.423000													36	100					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26581864	26581864	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:26581864C>T	ENST00000376261.3	+	15	2031	c.1528C>T	c.(1528-1530)Cct>Tct	p.P510S	GAD2_ENST00000259271.3_Missense_Mutation_p.P510S	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	510					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTGGTACATTCCTCCAAGCTT	0.453000													85	221					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70824220	70824220	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:70824220G>C	ENST00000373695.1	+	7	1630	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H	ACRC_ENST00000373696.3_Missense_Mutation_p.D365H			Q96QF7	ACRC_HUMAN	acidic repeat containing	365						nucleus		p.D365N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTCCCAGCATGATTCATCTGA	0.483000													14	48					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368485	37368485	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:37368485C>T	ENST00000361924.2	+	14	5482	c.5108C>T	c.(5107-5109)tCa>tTa	p.S1703L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1725L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1703	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTTCACAGTCAGAAACATTA	0.383000													64	177					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149229	34149229	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:34149229C>T	ENST00000346193.3	-	1	1218	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	389										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGGGCTGAGAT	0.622000													26	99					0	0	1	0	0
PCNA	5111	broad.mit.edu	37	20	5096200	5096200	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:5096200C>T	ENST00000379160.3	-	6	843	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	PCNA_ENST00000379143.5_Missense_Mutation_p.E201K	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	201					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						TGAACTGGTTCATTCATCTCT	0.358000								DNA polymerases (catalytic subunits)					26	62					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915073	40915073	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:40915073G>A	ENST00000346991.5	+	11	3079	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D871N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	897	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CGATAAGAATGATATGGATAT	0.333000													27	66					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114201756	114201756	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:114201756G>A	ENST00000369615.1	+	16	2746	c.2684G>A	c.(2683-2685)gGa>gAa	p.G895E	MAGI3_ENST00000307546.9_Missense_Mutation_p.G895E|MAGI3_ENST00000369617.4_Missense_Mutation_p.G920E|MAGI3_ENST00000369611.4_Missense_Mutation_p.G895E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	920	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCGCTGTGGAAAACTGAAA	0.408000													32	76					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225751178	225751178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:225751178C>A	ENST00000409592.3	-	5	582	c.469G>T	c.(469-471)Gaa>Taa	p.E157*	DOCK10_ENST00000258390.7_Nonsense_Mutation_p.E163*			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	163							GTP binding	p.E163K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTACTTACTTCATCCTTATCA	0.338000													4	18					0.150653	0.151144	1	1	0
HACE1	57531	broad.mit.edu	37	6	105239524	105239524	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:105239524G>A	ENST00000262903.4	-	11	1205	c.929C>T	c.(928-930)tCt>tTt	p.S310F	HACE1_ENST00000369125.2_Missense_Mutation_p.S310F	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	310					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATAATTGCTAGAGAGGCTGAA	0.313000													26	95					0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101377785	101377785	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:101377785C>T	ENST00000370112.4	+	5	689	c.502C>T	c.(502-504)Cat>Tat	p.H168Y	SLC30A7_ENST00000357650.4_Missense_Mutation_p.H168Y	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	168	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGACATTCTCATGGCTCTGG	0.353000													51	123					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													4	18					0	0	1	0	0
PLK1S1	55857	broad.mit.edu	37	20	21227155	21227155	+	RNA	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:21227155G>C	ENST00000457464.1	+	0	3750							Q2M2Z5	KIZ_HUMAN	polo-like kinase 1 substrate 1						spindle organization	centrosome	protein kinase binding										CTCAGAAATTGAGGCTGCTTT	0.373000													6	19					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149282	34149282	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:34149282C>A	ENST00000346193.3	-	1	1165	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	372								p.G372W(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGACTGGACCCCCGACGAGTC	0.632000													30	90					1.99505e-19	2.15985e-19	1	1	0
LGALS3BP	3959	broad.mit.edu	37	17	76967881	76967881	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:76967881G>A	ENST00000262776.3	-	6	1843	c.1535C>T	c.(1534-1536)tCa>tTa	p.S512L	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	512					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGTGCGATCTGAGCCGCCAGA	0.607000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	43					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5460625	5460625	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:5460625C>G	ENST00000296564.7	+	13	1400	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	393										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGTGTGTTTCAGAAGATGAT	0.368000													7	14					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974238	35974238	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:35974238G>C	ENST00000297866.5	+	8	1401	c.1335G>C	c.(1333-1335)gtG>gtC	p.V445V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	445										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACTTCCTGTGACGTACCACT	0.353000													23	54					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755520	38755520	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:38755520G>A	ENST00000449082.2	-	21	3732	c.3733C>T	c.(3733-3735)Ccc>Tcc	p.P1245S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1245					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTTTGATGGGAGCCACTTCA	0.502000													34	98					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431941	56431941	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:56431941G>C	ENST00000302969.2	+	1	804	c.780G>C	c.(778-780)ctG>ctC	p.L260L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTATGTACCTGAGGCCAACAT	0.512000													33	74					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45500032	45500032	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:45500032C>G	ENST00000359600.5	-	11	2606	c.2401G>C	c.(2401-2403)Gaa>Caa	p.E801Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	801							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGCTGTGATTCCAAGTGTCCA	0.547000													59	137					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117138967	117138967	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:117138967C>T	ENST00000307564.4	-	3	1281	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	AKNA_ENST00000374075.5_Missense_Mutation_p.E293K|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.E374K|AKNA_ENST00000312033.3_Missense_Mutation_p.E374K	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGTAGCTCTCATCTTTGGGG	0.592000													14	42					0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25599781	25599781	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:25599781G>A	ENST00000215855.2	+	4	326	c.246G>A	c.(244-246)gaG>gaA	p.E82E	CRYBB3_ENST00000404334.1_Silent_p.E82E	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	82	Beta/gamma crystallin 'Greek key' 2.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						TTGTTCTGGAGAAGGGGGATT	0.582000													51	152					0	0	1	0	0
GPR173	54328	broad.mit.edu	37	X	53106005	53106005	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:53106005G>A	ENST00000332582.4	+	2	693	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	68						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D68Y(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GTGCCTGGCCGATGGCATACG	0.602000													43	66					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103436591	103436591	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:103436591G>C	ENST00000361246.2	-	14	2180	c.1892C>G	c.(1891-1893)gCt>gGt	p.A631G		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	631					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ATCAAGCTGAGCTTCCAGCTA	0.527000													5	14					0	0	1	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18500318	18500318	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:18500318C>T	ENST00000280706.2	+	7	1697	c.900C>T	c.(898-900)atC>atT	p.I300I	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.I300I	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	300					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	AGAATGGTATCACAGACCTCA	0.378000													61	176					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927875	6927875	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:6927875G>T	ENST00000293805.5	+	4	649	c.557G>T	c.(556-558)aGc>aTc	p.S186I	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	186	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						AGTCCAGCCAGCCCTGACCCC	0.607000													47	164					3.21987e-24	3.52925e-24	1	1	0
PRSS12	8492	broad.mit.edu	37	4	119252894	119252894	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:119252894C>G	ENST00000296498.3	-	4	1230	c.948G>C	c.(946-948)gtG>gtC	p.V316V		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	316	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GCCTGCAGATCACTTCTGCAT	0.493000													12	70					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175410	159175410	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:159175410G>T	ENST00000537147.1	+	3	1024	c.181G>T	c.(181-183)Gca>Tca	p.A61S	DARC_ENST00000368122.2_Missense_Mutation_p.A61S|DARC_ENST00000368121.2_Missense_Mutation_p.A63S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	61					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGATGACTCTGCACTGCCCTT	0.547000													28	67					8.24728e-16	8.83535e-16	1	1	0
EPAS1	2034	broad.mit.edu	37	2	46587818	46587818	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:46587818C>A	ENST00000263734.3	+	5	1006	c.496C>A	c.(496-498)Cgg>Agg	p.R166R		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	166					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTCCACAGAGCGGGACTTCTT	0.498000													25	49					1.85244e-09	1.93407e-09	1	1	0
HNRNPH2	3188	broad.mit.edu	37	X	100668287	100668287	+	Silent	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:100668287G>T	ENST00000316594.5	+	2	1389	c.1311G>T	c.(1309-1311)ctG>ctT	p.L437L		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	437					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						ACCAAGTTCTGCAGGAAAACT	0.458000													83	269					7.49063e-41	8.28407e-41	1	1	0
L1CAM	3897	broad.mit.edu	37	X	153135906	153135906	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153135906G>C	ENST00000370060.1	-	8	932	c.743C>G	c.(742-744)tCc>tGc	p.S248C	L1CAM_ENST00000538883.1_Missense_Mutation_p.S250C|L1CAM_ENST00000370057.3_Missense_Mutation_p.S248C|L1CAM_ENST00000543994.1_Missense_Mutation_p.S250C|L1CAM_ENST00000361699.4_Missense_Mutation_p.S248C|L1CAM_ENST00000370055.1_Missense_Mutation_p.S243C|L1CAM_ENST00000361981.3_Missense_Mutation_p.S243C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	248	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCTGCTGGAGTTGGTGGG	0.652000													17	47					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554753	19554753	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:19554753G>C	ENST00000328405.2	+	13	2637	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	791						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TAAAAGGAAAGAGAAGAACTT	0.448000													9	92					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896287	134896287	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:134896287G>C	ENST00000607359.1	+	7	1299	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	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)		CCCCCTGTAAGCCTGGATGCG	0.657000													8	10					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14068548	14068548	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:14068548G>C	ENST00000235372.7	+	5	1136	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.E94Q|PRDM2_ENST00000311066.5_Missense_Mutation_p.E94Q	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	94	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CACTGATCCAGAGAAGGGAAA	0.368000													22	47					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107433638	107433638	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:107433638G>A	ENST00000394872.2	-	20	1644	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	COL4A6_ENST00000372216.4_Silent_p.G471G|COL4A6_ENST00000334504.7_Silent_p.G470G|COL4A6_ENST00000538570.1_Silent_p.G470G|COL4A6_ENST00000545689.1_Silent_p.G470G			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	471	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCCTTTGAGGCCTAGGTTTC	0.468000									Alport syndrome with Diffuse Leiomyomatosis				27	82					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926201	135926201	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:135926201G>A	ENST00000372097.5	+	4	927	c.604G>A	c.(604-606)Gag>Aag	p.E202K	GTF3C5_ENST00000372099.6_Missense_Mutation_p.E193K|GTF3C5_ENST00000372095.5_Missense_Mutation_p.E77K|GTF3C5_ENST00000372108.5_Missense_Mutation_p.E202K|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E202K	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	202						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CATCTCAGGTGAGAATCTGAT	0.607000													35	96					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923702	158923702	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:158923702G>A	ENST00000367097.3	+	13	4364	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1003					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCAGCTGGCCGACAGCCCGCG	0.721000													6	17					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139837266	139837266	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139837266C>T	ENST00000325285.3	-	4	560	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	161							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TTGTGCGGCCCCAGGAACACC	0.657000													23	51					0	0	1	0	0
KCTD9	54793	broad.mit.edu	37	8	25290879	25290879	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:25290879C>G	ENST00000221200.4	-	10	1106	c.886G>C	c.(886-888)Gag>Cag	p.E296Q		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	296	Pentapeptide repeat 1.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GAAGGATCCTCAAAATTACAC	0.418000													8	29					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131012745	131012745	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:131012745C>T	ENST00000352689.6	+	1	127	c.87C>T	c.(85-87)acC>acT	p.T29T	MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	29					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTTCCTCCACCTACCTTCCCG	0.672000													3	25					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65007846	65007846	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:65007846C>T	ENST00000247207.6	+	1	661	c.279C>T	c.(277-279)ttC>ttT	p.F93F	HSPA2_ENST00000394709.1_Silent_p.F93F|HSPA2_ENST00000554883.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	93					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACTGGCCGTTCCGGGTGGTGA	0.557000													18	56					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827433	56827433	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:56827433C>T	ENST00000229201.4	-	4	409	c.255G>A	c.(253-255)ctG>ctA	p.L85L	TIMELESS_ENST00000554616.1_Silent_p.L85L|TIMELESS_ENST00000553532.1_Silent_p.L85L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	85					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGTTCACCATCAGTCTGGGAG	0.478000													43	103					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155309120	155309120	+	Splice_Site	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:155309120G>A	ENST00000368346.3	-	26	9154	c.8516_splice	c.e26+1	p.R2839_splice	ASH1L_ENST00000392403.3_Splice_Site_p.R2834_splice			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2839					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGACTTACCGTCCTCCATTC	0.468000													4	106					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636025	42636025	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:42636025G>A	ENST00000315323.3	+	1	1101	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	323					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGGCACCAAGAAGGAGGGCT	0.622000													12	46					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63948295	63948295	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:63948295C>G	ENST00000260118.6	-	2	546	c.144G>C	c.(142-144)atG>atC	p.M48I		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	48	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	CATAGTTTTTCATGACTTTAT	0.323000													11	65					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101120961	101120961	+	Missense_Mutation	SNP	G	G	C	rs144523618		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:101120961G>C	ENST00000314742.8	-	2	309	c.87C>G	c.(85-87)atC>atG	p.I29M	LINS_ENST00000560133.1_Intron|LINS_ENST00000561308.1_Missense_Mutation_p.I29M|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	29			I -> V (in dbSNP:rs11247226).							central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGAGATAAAAGATGTAATCAT	0.413000													9	17					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862009	128862009	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:128862009G>C	ENST00000274487.4	+	4	1073	c.928G>C	c.(928-930)Gaa>Caa	p.E310Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	310					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAAATAGCAGAAAGTGGAAG	0.358000													14	38					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604393	90604393	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:90604393C>A	ENST00000369352.1	+	1	206	c.206C>A	c.(205-207)gCa>gAa	p.A69E		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	69					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TATGATGATGCATTCCCTATC	0.473000													9	38					6.40141e-05	6.47499e-05	1	1	0
ZNF839	55778	broad.mit.edu	37	14	102792787	102792787	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:102792787C>T	ENST00000262236.5	+	2	761	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	ZNF839_ENST00000559185.1_Missense_Mutation_p.R136W|ZNF839_ENST00000558850.1_Missense_Mutation_p.R136W|ZNF839_ENST00000442396.2_Missense_Mutation_p.R252W	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	136						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACGTTCTGGACGGGTATCTCG	0.368000													12	34					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4714208	4714208	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:4714208G>A	ENST00000262960.9	-	4	475	c.198C>T	c.(196-198)atC>atT	p.I66I	DPP9_ENST00000598800.1_Silent_p.I37I|DPP9_ENST00000597849.1_Silent_p.I66I|DPP9_ENST00000594671.1_Silent_p.I37I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	37					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TGCCGTGGATGATGCTCCGGA	0.672000													6	14					0	0	1	0	0
PMP22	5376	broad.mit.edu	37	17	15134242	15134242	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:15134242G>A	ENST00000395938.2	-	5	669	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	PMP22_ENST00000312280.3_Missense_Mutation_p.R159C|PMP22_ENST00000494511.1_Missense_Mutation_p.T99M|PMP22_ENST00000395936.1_3'UTR	NM_153321.1	NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	159					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		CCTCATTCGCGTTTCCGCAAG	0.547000													35	69					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95392501	95392501	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:95392501T>C	ENST00000336148.5	-	12	2243	c.2119A>G	c.(2119-2121)Aac>Gac	p.N707D		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TGTTGACTGTTAAAGCCATCA	0.358000								Direct reversal of damage;Homologous recombination					11	38					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928211	21928211	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:21928211G>C	ENST00000542643.2	-	22	1998	c.1696C>G	c.(1696-1698)Cag>Gag	p.Q566E	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.Q625E|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.Q571E|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.Q540E|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.Q604E	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	540					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGAGCTCTGAGTGGATGAG	0.667000													10	36					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207793300	207793300	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:207793300G>C	ENST00000367049.4	+	43	7142	c.7142G>C	c.(7141-7143)gGa>gCa	p.G2381A	CR1_ENST00000367053.1_Missense_Mutation_p.G1931A|CR1_ENST00000367051.1_Missense_Mutation_p.G1931A|CR1_ENST00000400960.2_Missense_Mutation_p.G1931A|CR1_ENST00000367052.1_Missense_Mutation_p.G1931A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1931					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATCACTATGGAGATTATGTG	0.423000													5	21					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4715998	4715998	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:4715998G>A	ENST00000354582.6	+	22	2919	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	ITPR1_ENST00000423119.2_Missense_Mutation_p.D857N|ITPR1_ENST00000456211.2_Missense_Mutation_p.D842N|ITPR1_ENST00000443694.2_Missense_Mutation_p.D842N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.D842N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D857N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	857					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCCTTTCTCTGATAAAGAGAA	0.388000													3	19					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8739320	8739320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:8739320G>A	ENST00000534127.1	-	8	1982	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	ST5_ENST00000526099.1_Nonsense_Mutation_p.Q46*|ST5_ENST00000530438.1_Nonsense_Mutation_p.Q113*|ST5_ENST00000526757.1_Nonsense_Mutation_p.Q113*|ST5_ENST00000357665.1_Nonsense_Mutation_p.Q533*|ST5_ENST00000530991.1_Nonsense_Mutation_p.Q5*|ST5_ENST00000313726.6_Nonsense_Mutation_p.Q533*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	533					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCCTGTCCTGAGGACTCCAC	0.552000													14	42					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45736388	45736388	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:45736388C>T	ENST00000403390.1	+	10	1058	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	PFKL_ENST00000349048.4_Missense_Mutation_p.S306F			P17858	K6PL_HUMAN	phosphofructokinase, liver	306					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGGACGCCCTCTGCCTTCGAC	0.657000													13	56					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196529932	196529932	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:196529932C>G	ENST00000327134.3	+	4	655	c.333C>G	c.(331-333)atC>atG	p.I111M		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	111	Autoregulatory region (By similarity).|GTPase-binding (By similarity).				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTCCAATATCACCAAACTAG	0.393000													11	57					0	0	1	0	0
NQO1	1728	broad.mit.edu	37	16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	ACAAGGTCTGCGGCTTCCAGC	0.488000													5	312					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57919663	57919663	+	Silent	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:57919663G>T	ENST00000355673.3	+	6	1268	c.912G>T	c.(910-912)ctG>ctT	p.L304L	MBD6_ENST00000431731.2_Silent_p.L304L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	304	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGGGGCCCCTGGGAGGGGCCC	0.692000													26	63					2.79863e-10	2.9319e-10	1	1	0
SPAG16	79582	broad.mit.edu	37	2	215013969	215013969	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:215013969G>A	ENST00000331683.5	+	15	1794	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	SPAG16_ENST00000374309.3_Missense_Mutation_p.E473K	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	567					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCCTGGCAATGAGGTGAATTT	0.388000													14	64					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6045564	6045564	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:6045564T>A	ENST00000265849.7	-	2	227	c.122A>T	c.(121-123)gAg>gTg	p.E41V	PMS2_ENST00000406569.3_Missense_Mutation_p.E41V|PMS2_ENST00000382321.4_Missense_Mutation_p.E41V|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	41					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTCTACTAACTCCTTTACCGC	0.433000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				101	276					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943217	11943217	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:11943217C>G	ENST00000304060.5	+	4	1390	c.1226C>G	c.(1225-1227)tCa>tGa	p.S409*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGATCTGCCTCACACCTTCGA	0.458000													26	75					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217650	150217650	+	Silent	SNP	C	C	T	rs76395091		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:150217650C>T	ENST00000313543.4	+	2	745	c.588C>T	c.(586-588)aaC>aaT	p.N196N		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	196							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)		TGCAGTGCAACGAAGGGGCTT	0.448000													14	44					0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219221871	219221871	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:219221871G>A	ENST00000289388.3	+	2	108	c.79G>A	c.(79-81)Gag>Aag	p.E27K	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	27										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACTCCCAGAGGCCAATGC	0.632000													22	59					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27800738	27800738	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:27800738G>C	ENST00000318304.8	+	6	717	c.434G>C	c.(433-435)aGa>aCa	p.R145T	PPFIBP1_ENST00000537927.1_5'UTR|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R145T|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.R145T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R145T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	145					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAAGAGCACAGAGAGAAGGTG	0.453000													41	103					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149771523	149771523	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:149771523G>A	ENST00000451292.1	+	22	3520	c.3412G>A	c.(3412-3414)Gac>Aac	p.D1138N	TCOF1_ENST00000504761.2_Missense_Mutation_p.D1101N|TCOF1_ENST00000377797.3_Missense_Mutation_p.D1101N|TCOF1_ENST00000323668.7_Missense_Mutation_p.D1024N|TCOF1_ENST00000439160.2_Missense_Mutation_p.D1063N|TCOF1_ENST00000445265.2_Missense_Mutation_p.D1024N|TCOF1_ENST00000513346.1_Missense_Mutation_p.D1100N			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1101					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTAGGTTGACAGTGCTGT	0.507000													15	35					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62910855	62910855	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:62910855C>T	ENST00000339950.4	+	6	1819	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	USP1_ENST00000371146.1_Missense_Mutation_p.S335L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	335					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CAAAAGAAATCAAGAGTTAAA	0.328000													15	63					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30715709	30715709	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:30715709A>G	ENST00000295754.5	+	5	1749	c.1367A>G	c.(1366-1368)gAa>gGa	p.E456G	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E481G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	456	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GTGCTCTGGGAAATGACATCT	0.463000													31	75					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129059037	129059037	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:129059037G>A	ENST00000394422.3	+	12	1643	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	UTP14A_ENST00000425117.2_Missense_Mutation_p.E487K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E485K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.E371K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	539					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GCAGCAGTCAGAGAGGACCCC	0.478000													48	158					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41762529	41762529	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:41762529G>A	ENST00000389629.4	+	7	976	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	322	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGAAGAGGATGACAAATCCAG	0.433000													108	283					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670176	95670176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:95670176G>A	ENST00000298912.4	-	9	1623	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	504						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAAGAAGACTGAGAATTATTG	0.463000													15	38					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10506687	10506687	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:10506687C>G	ENST00000222005.2	-	2	348	c.295G>C	c.(295-297)Gag>Cag	p.E99Q		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	99					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGCTTCTGCTCCCAGCTCCGC	0.657000													44	171					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93716353	93716353	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:93716353C>G	ENST00000265990.6	+	7	1078	c.770C>G	c.(769-771)tCt>tGt	p.S257C		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	257					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTAATCAGTCTGCAAATGAT	0.333000													14	25					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89843066	89843066	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:89843066C>T	ENST00000310775.7	+	25	2758	c.2672C>T	c.(2671-2673)tCa>tTa	p.S891L	FANCI_ENST00000300027.8_Missense_Mutation_p.S831L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	891					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATTCCTACTTCAGTGGAAGAG	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				24	60					0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5457237	5457237	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:5457237G>A	ENST00000381577.3	+	3	297	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Intron	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	71	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TGTGCATGGAGAGGAAGACCT	0.443000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								21	44					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869116	47869116	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:47869116C>A	ENST00000289672.2	-	44	6692	c.6642G>T	c.(6640-6642)agG>agT	p.R2214S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2214					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCCAGATCCCTGGTAGCCT	0.468000													69	153					3.37205e-40	3.72255e-40	1	1	0
BTNL3	10917	broad.mit.edu	37	5	180432442	180432442	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:180432442G>C	ENST00000342868.6	+	8	1155	c.971G>C	c.(970-972)aGa>aCa	p.R324T		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	324	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	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;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTGAGAAGAGATTTACAAGG	0.512000													33	88					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													4	132					0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110152749	110152749	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:110152749G>A	ENST00000351050.3	-	3	402	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	72					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCCATAGATGATAGCCTTGA	0.502000													41	124					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660792	46660792	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:46660792G>C	ENST00000544460.1	+	1	5181	c.4927G>C	c.(4927-4929)Gaa>Caa	p.E1643Q	TDRD6_ENST00000316081.6_Missense_Mutation_p.E1643Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1643					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TAACATTTCAGAAGGATTATG	0.403000													21	84					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113140342	113140342	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:113140342G>C	ENST00000261965.3	-	22	2875	c.2689C>G	c.(2689-2691)Ctg>Gtg	p.L897V		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	897					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGGTACCCAGAGACACACGG	0.587000													12	12					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787168	73787168	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:73787168G>A	ENST00000342056.2	+	4	1138	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	KCNQ5_ENST00000370398.1_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R247Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R247Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R247Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	247					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			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)		CGCATGGACCGAAGGGGAGGC	0.428000													11	44					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461756	5461756	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:5461756C>G	ENST00000296564.7	+	13	2531	c.2309C>G	c.(2308-2310)tCa>tGa	p.S770*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	770										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATTTCACATCATTAATAGGT	0.388000													9	15					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853799	40853799	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:40853799C>T	ENST00000254691.5	+	3	2564	c.2365C>T	c.(2365-2367)Cat>Tat	p.H789Y	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	789					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCAATCCTTCCATCCCCAGAT	0.478000													92	244					0	0	1	0	0
JADE2	23338	broad.mit.edu	37	5	133900186	133900186	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:133900186C>T	ENST00000395003.1	+	8	1034	c.855C>T	c.(853-855)gtC>gtT	p.V285V	PHF15_ENST00000361895.2_Silent_p.V285V|PHF15_ENST00000282605.4_Silent_p.V285V|PHF15_ENST00000402835.1_Silent_p.V285V	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		285					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCCCAGGTCAGCATCGGCT	0.597000													5	6					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45391565	45391565	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:45391565C>T	ENST00000252483.5	+	9	1546	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	516					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTATGATGCTCTGTCCTATAG	0.557000													16	57					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57751071	57751071	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:57751071G>C	ENST00000269122.3	+	15	2630	c.2356G>C	c.(2356-2358)Gat>Cat	p.D786H	CLTC_ENST00000393043.1_Missense_Mutation_p.D786H|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	786	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTTTGTCCATGATTTGGTGCT	0.294000			T	"""ALK, TFE3"""	"""ALCL, renal """								15	32					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18608843	18608843	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:18608843C>T	ENST00000399799.1	-	10	2045	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	369	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCAAGTCATCAAAATTACTA	0.328000													32	59					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123657442	123657442	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:123657442G>C	ENST00000422452.2	-	17	2868	c.2805C>G	c.(2803-2805)gtC>gtG	p.V935V	TENM1_ENST00000371130.3_Silent_p.V935V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGATTAAGATGACAGAGATGC	0.403000													19	67					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	613847	613847	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:613847G>C	ENST00000437048.2	-	2	240	c.94C>G	c.(94-96)Cca>Gca	p.P32A	VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Missense_Mutation_p.P32A|VPS53_ENST00000401468.3_Missense_Mutation_p.P32A|VPS53_ENST00000291074.5_Missense_Mutation_p.P32A|VPS53_ENST00000571805.1_Missense_Mutation_p.P32A	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	32					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCCTGGCTTGGAAACACCTAT	0.378000													25	50					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474213	44474213	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:44474213G>C	ENST00000372310.3	-	5	567	c.402C>G	c.(400-402)ttC>ttG	p.F134L	SLC6A9_ENST00000537678.1_Missense_Mutation_p.F69L|SLC6A9_ENST00000372307.3_Missense_Mutation_p.F69L|SLC6A9_ENST00000360584.2_Missense_Mutation_p.F207L|SLC6A9_ENST00000357730.2_Missense_Mutation_p.F153L|SLC6A9_ENST00000372306.3_Missense_Mutation_p.F134L|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_Missense_Mutation_p.F23L	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	207						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGACGAGAAGAAGTAGTAGA	0.567000													20	59					0	0	1	0	0
NMNAT1	64802	broad.mit.edu	37	1	10042519	10042519	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:10042519G>A	ENST00000377205.1	+	5	744	c.600G>A	c.(598-600)tcG>tcA	p.S200S		NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	200					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TCTATGAATCGGATGTGCTGT	0.473000													6	139					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62986551	62986551	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:62986551G>A	ENST00000561311.1	+	13	1482	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	TLN2_ENST00000306829.6_Missense_Mutation_p.E418K			Q9Y4G6	TLN2_HUMAN	talin 2	418					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAAGGTGATGAGGAGTCAAC	0.433000													12	29					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662473	99662473	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:99662473C>A	ENST00000373034.4	-	1	2798	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	PCDH19_ENST00000420881.2_Missense_Mutation_p.D375Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D375Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	375	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGTCGCGATCAGACACCCGC	0.587000													42	95					6.2361e-21	6.79901e-21	1	1	0
HDAC6	10013	broad.mit.edu	37	X	48661586	48661586	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:48661586G>A	ENST00000334136.5	+	4	452	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HDAC6_ENST00000376619.2_Missense_Mutation_p.E92K|HDAC6_ENST00000444343.2_Missense_Mutation_p.E106K|HDAC6_ENST00000413163.2_Missense_Mutation_p.E37K|HDAC6_ENST00000469223.1_3'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	92	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGTGTTGGATGAGCAGTTAAA	0.488000													10	18					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56585722	56585722	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:56585722T>C	ENST00000336078.4	+	4	979	c.203T>C	c.(202-204)gTt>gCt	p.V68A	ZNF532_ENST00000591083.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591808.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591230.1_Missense_Mutation_p.V68A|ZNF532_ENST00000589288.1_Missense_Mutation_p.V68A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTCAAGAATGTTCGGAACATT	0.517000													16	39					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31728851	31728851	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:31728851C>T	ENST00000320027.5	-	4	692	c.348G>A	c.(346-348)caG>caA	p.Q116Q	HSPH1_ENST00000429785.2_Silent_p.Q13Q|HSPH1_ENST00000445273.2_Silent_p.Q118Q|HSPH1_ENST00000380406.5_Intron|HSPH1_ENST00000380405.4_Silent_p.Q116Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	116					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGGCTGTTATCTGCTCCACAC	0.348000													17	43					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143033698	143033698	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:143033698T>G	ENST00000513000.1	-	23	2706	c.2273A>C	c.(2272-2274)gAa>gCa	p.E758A	INPP4B_ENST00000308502.4_Missense_Mutation_p.E758A|INPP4B_ENST00000262992.4_Missense_Mutation_p.E758A|INPP4B_ENST00000508116.1_Missense_Mutation_p.E758A|INPP4B_ENST00000509777.1_Missense_Mutation_p.E758A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	758					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGCTTACCTTTCAGCCAGAGT	0.373000													25	60					0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120862657	120862657	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:120862657C>G	ENST00000313655.4	-	3	665	c.451G>C	c.(451-453)Gac>Cac	p.D151H		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	151					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTGACTGTCAGGTCCTTCA	0.303000													14	40					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	60522666	60522666	+	Missense_Mutation	SNP	G	G	C	rs149317894		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:60522666G>C	ENST00000468189.1	-	5	400	c.30C>G	c.(28-30)atC>atG	p.I10M	FHIT_ENST00000341848.4_Missense_Mutation_p.I10M|FHIT_ENST00000476844.1_Missense_Mutation_p.I10M|FHIT_ENST00000492590.1_Missense_Mutation_p.I10M			P49789	FHIT_HUMAN	fragile histidine triad	10	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CAGAGGGCTTGATGAGATGTT	0.378000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				17	42					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390474	107390474	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:107390474C>T	ENST00000429433.2	-	5	2570	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	BEND3_ENST00000369042.1_Missense_Mutation_p.E641K	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	641	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGCAGCGCTCATCCAGTTTG	0.652000													16	46					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58384327	58384327	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:58384327C>T	ENST00000435989.2	-	3	2665	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	811					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CTGGAGCTTTCAGCAAAAGAT	0.388000													13	47					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50131609	50131609	+	RNA	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:50131609G>A	ENST00000376025.2	-	0	1993							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTGTTGGATGGCAGCAGCCTA	0.498000													9	15					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2336736	2336736	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:2336736C>A	ENST00000301732.5	-	22	3937	c.3237G>T	c.(3235-3237)caG>caT	p.Q1079H	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q1021H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1079					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGCTCCGGGGCTGGGGGAAGT	0.647000													45	113					1.06522e-23	1.1655e-23	1	1	0
SOX17	64321	broad.mit.edu	37	8	55372372	55372372	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:55372372C>A	ENST00000297316.4	+	2	1266	c.1062C>A	c.(1060-1062)ctC>ctA	p.L354L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	354	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCGCCGAGCTCCTCGGGGAGG	0.687000													7	19					1.26484e-09	1.32283e-09	1	1	0
USP34	9736	broad.mit.edu	37	2	61492647	61492647	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:61492647C>T	ENST00000398571.2	-	43	5739	c.5663G>A	c.(5662-5664)cGt>cAt	p.R1888H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1888					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R1888H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATTCAGCACGGACATCTTC	0.428000													30	106					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74350882	74350882	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:74350882C>A	ENST00000263665.6	-	14	1888	c.1861G>T	c.(1861-1863)Ggt>Tgt	p.G621C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	621	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTGTCTTTACCTTCTTTCCAA	0.463000													14	66					1.49906e-05	1.52884e-05	1	1	0
OTOA	146183	broad.mit.edu	37	16	21742218	21742218	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:21742218C>T	ENST00000388958.3	+	20	2269	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	OTOA_ENST00000286149.4_Silent_p.F770F|OTOA_ENST00000388956.4_Silent_p.F677F|OTOA_ENST00000388957.3_Silent_p.F432F	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	770					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TAGTACTTTTCTCAGGAGATG	0.428000													8	8					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194227	60194227	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:60194227G>A	ENST00000267484.5	-	3	1510	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	392					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P392L(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GATGGTTGGCGGTCCGGACCT	0.672000													3	8					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175189432	175189432	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:175189432C>G	ENST00000454872.1	+	9	1667	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	513					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTCAGGATTTCAAGAAGGTTC	0.333000													7	12					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73572554	73572554	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:73572554C>G	ENST00000224721.6	+	67	9560	c.9555C>G	c.(9553-9555)gtC>gtG	p.V3185V	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.V940V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3180					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGCAGCTGTCAAGCCTGATG	0.592000													8	21					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176301330	176301330	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:176301330C>T	ENST00000329542.4	+	8	1415	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F	UNC5A_ENST00000261961.3_Missense_Mutation_p.L341F	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	381					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGGCAGTCTCTGTCCCCG	0.642000													49	150					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173952772	173952772	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:173952772G>C	ENST00000367696.2	-	4	727	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q126E|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q126E			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	126					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGAACACTCTGAGTAGTGCTG	0.458000													18	64					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20599966	20599966	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:20599966C>T	ENST00000504154.1	+	33	3892	c.3640C>T	c.(3640-3642)Cgt>Tgt	p.R1214C	SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1214	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTATCGGGGGCGTGTTCGTGC	0.473000													41	114					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40078724	40078724	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:40078724G>C	ENST00000324616.5	+	10	1496	c.1342G>C	c.(1342-1344)Gat>Cat	p.D448H	C12orf40_ENST00000405531.3_Missense_Mutation_p.D448H	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	448										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTTGGACTTGATGAGGTAAA	0.353000													23	39					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4510825	4510825	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:4510825G>C	ENST00000301286.3	-	3	3104	c.3105C>G	c.(3103-3105)ctC>ctG	p.L1035L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1035						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGAAGGTGCTGAGGCCAGTGT	0.622000													13	67					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519582	53519582	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:53519582C>T	ENST00000370905.3	-	2	629	c.489G>A	c.(487-489)ctG>ctA	p.L163L	KLHL31_ENST00000407079.1_Silent_p.L163L	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TCTCCCGTATCAGAAAATCAC	0.383000													18	86					0	0	1	0	0
TMEM47	83604	broad.mit.edu	37	X	34657458	34657458	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:34657458G>C	ENST00000275954.3	-	2	531	c.273C>G	c.(271-273)atC>atG	p.I91M		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	91						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAATGAGAATGATGGCAGCGC	0.448000													5	14					0	0	1	0	0
RWDD1	51389	broad.mit.edu	37	6	116910017	116910017	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:116910017C>G	ENST00000466444.2	+	4	499	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	RWDD1_ENST00000392526.1_5'UTR|RWDD1_ENST00000487832.2_5'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	95	RWD.						protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TGAAGAAAATCTTGGTATGGT	0.289000													22	40					0	0	1	0	0
EMC7	56851	broad.mit.edu	37	15	34382527	34382527	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:34382527C>T	ENST00000256545.4	-	3	594	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		CCATTGGGTTCATTAGAAAGT	0.408000													18	64					0	0	1	0	0
DBNDD1	79007	broad.mit.edu	37	16	90075219	90075219	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:90075219C>T	ENST00000392973.3	-	2	1041	c.310G>A	c.(310-312)Gag>Aag	p.E104K	DBNDD1_ENST00000304733.3_Missense_Mutation_p.E118K|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E98K|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E218K			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	98						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TTGAGGTTCTCGTCGTCCGAG	0.647000													6	15					0	0	1	0	0
C2orf15	150590	broad.mit.edu	37	2	99763938	99763938	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:99763938C>G	ENST00000302513.2	+	3	644	c.8C>G	c.(7-9)tCa>tGa	p.S3*	TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Nonsense_Mutation_p.S3*	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN	chromosome 2 open reading frame 15	3										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						TTCATGTCCTCAACTCTGGGG	0.403000													18	61					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148456685	148456685	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:148456685G>A	ENST00000325222.4	+	6	859	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	CUL1_ENST00000602748.1_Missense_Mutation_p.E194K|CUL1_ENST00000409469.1_Missense_Mutation_p.E194K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|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|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	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)			AAGGAATGGTGAAACCATCAA	0.289000													15	34					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39564678	39564678	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:39564678C>G	ENST00000263881.3	-	5	679	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	MAP4K3_ENST00000341681.5_Missense_Mutation_p.E119Q|MAP4K3_ENST00000437545.1_Missense_Mutation_p.E56Q	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	119	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGCAGTGTTTCTCTGCTAACA	0.318000													8	34					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4224440	4224440	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:4224440G>C	ENST00000600132.1	+	22	3655	c.3379G>C	c.(3379-3381)Gat>Cat	p.D1127H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.D1127H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.D1217H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1127										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GATGGATGAAGATGTGCAGCG	0.592000													10	14					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802233	67802233	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:67802233C>G	ENST00000544246.1	-	2	1031	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	PCDH9_ENST00000377865.2_Missense_Mutation_p.E114Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.E114Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.E114Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.E114Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	114	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATCACCACCTCAAGTTCAAAG	0.423000													33	80					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152679603	152679603	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:152679603C>T	ENST00000367255.5	-	66	11114	c.10513G>A	c.(10513-10515)Gaa>Aaa	p.E3505K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E3512K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3505K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3476K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3512K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3505					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACCAAACTTCAAATGCCTTT	0.418000										HNSCC(10;0.0054)			44	90					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79032926	79032926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:79032926G>T	ENST00000446378.2	+	2	8369	c.8338G>T	c.(8338-8340)Gaa>Taa	p.E2780*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2780						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TATCACAAAAGAAAGTATGAA	0.388000													16	23					1.52009e-12	1.60889e-12	1	1	0
EBP	10682	broad.mit.edu	37	X	48382451	48382451	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:48382451T>A	ENST00000495186.1	+	2	1115	c.292T>A	c.(292-294)Tct>Act	p.S98T	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	98					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						AGCCTTCTTATCTCAACTCTG	0.498000													17	25					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949754	45949754	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:45949754C>A	ENST00000323084.4	-	5	782	c.717G>T	c.(715-717)gtG>gtT	p.V239V	TSPEAR_ENST00000397916.1_Silent_p.V171V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	239					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGATGGACAGCACCGCCAGCG	0.642000													11	45					7.03913e-09	7.33689e-09	1	1	0
TNFRSF8	943	broad.mit.edu	37	1	12172069	12172069	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:12172069G>C	ENST00000263932.2	+	7	1013	c.791G>C	c.(790-792)cGa>cCa	p.R264P	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R153P	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	264					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGTTCTCGAGGTAAGGGC	0.577000													13	39					0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31538724	31538724	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:31538724G>C	ENST00000325366.9	+	4	862	c.735G>C	c.(733-735)ggG>ggC	p.G245G	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	245										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						TGAAGAAAGGGAAGGCATTTG	0.368000													10	19					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166231294	166231294	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:166231294C>T	ENST00000375437.2	+	22	4362	c.4072C>T	c.(4072-4074)Ctc>Ttc	p.L1358F	SCN2A_ENST00000375427.2_Missense_Mutation_p.L1358F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1358F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1358F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1358					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGGAGTGAATCTCTTTGCTGG	0.388000													31	64					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23390051	23390051	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:23390051C>G	ENST00000343070.2	+	11	1605	c.1429C>G	c.(1429-1431)Cag>Gag	p.Q477E	SCNN1B_ENST00000568923.1_Missense_Mutation_p.Q450E|SCNN1B_ENST00000568085.1_Missense_Mutation_p.Q441E|SCNN1B_ENST00000307331.5_Missense_Mutation_p.Q522E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	477					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGTCTTGTCTCAGGAGCGGGA	0.592000													11	57					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50664171	50664171	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:50664171G>C	ENST00000268459.3	+	7	761	c.537G>C	c.(535-537)aaG>aaC	p.K179N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	179	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CATCCAGCAAGATGCTGCGGG	0.602000													32	75					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81624189	81624189	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:81624189C>T	ENST00000356860.3	-	20	2067	c.1729G>A	c.(1729-1731)Gat>Aat	p.D577N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D596N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	596						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTTACCTCATCTTGAGATTTA	0.274000													13	26					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10583894	10583894	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:10583894G>A	ENST00000234111.4	-	6	1028	c.518C>T	c.(517-519)aCg>aTg	p.T173M	ODC1_ENST00000405333.1_Missense_Mutation_p.T173M	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	173					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	GGTTCTGAGCGTGGCACCGAA	0.483000													36	95					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79910685	79910685	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:79910685G>A	ENST00000360280.3	+	33	3995	c.3735G>A	c.(3733-3735)atG>atA	p.M1245I	VPS13A_ENST00000357409.5_Missense_Mutation_p.M1245I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M1206I|VPS13A_ENST00000376634.4_Missense_Mutation_p.M1245I|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1245					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTTCATATGATAACAGAGA	0.383000													18	50					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30572460	30572460	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:30572460G>C	ENST00000376511.2	-	12	1559	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	336	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTCTGGGGAAGAAGGTTTGGC	0.527000													95	253					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83850048	83850048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:83850048C>T	ENST00000349129.2	+	23	5601	c.5341C>T	c.(5341-5343)Caa>Taa	p.Q1781*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1772*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1762*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1781			Q -> L (in dbSNP:rs9444039).		protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CATACTGCATCAAGCTGATTC	0.408000													44	77					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126071480	126071480	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:126071480C>G	ENST00000318410.7	-	14	2097	c.1748G>C	c.(1747-1749)aGa>aCa	p.R583T	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R435T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	583					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAAGGTAGCTCTGAGTTTAGT	0.393000													10	31					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68619908	68619908	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:68619908G>C	ENST00000226413.4	-	1	170	c.146C>G	c.(145-147)tCt>tGt	p.S49C	GNRHR_ENST00000420975.2_Missense_Mutation_p.S49C|RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	49					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AAAGGTCGCAGAGAGCAGAAA	0.448000													27	103					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5797843	5797843	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:5797843G>T	ENST00000339450.5	-	13	2449	c.2360C>A	c.(2359-2361)tCt>tAt	p.S787Y	ERMP1_ENST00000543230.1_Missense_Mutation_p.S365Y|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	787					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CAATTTTATAGAATCCCAAGG	0.353000													36	123					1.30015e-28	1.42762e-28	1	1	0
ZNF16	7564	broad.mit.edu	37	8	146156489	146156489	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:146156489G>C	ENST00000276816.4	-	4	1870	c.1684C>G	c.(1684-1686)Cag>Gag	p.Q562E	ZNF16_ENST00000394909.2_Missense_Mutation_p.Q562E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTCTGATGCTGAATGAGGGTT	0.478000													18	62					0	0	1	0	0
MRPS23	51649	broad.mit.edu	37	17	55926767	55926767	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:55926767G>A	ENST00000313608.8	-	2	94	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	MRPS23_ENST00000578444.1_Missense_Mutation_p.R17W	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	17					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ACCAGGTCCCGAGTCCTTAGG	0.562000													17	53					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811824	100811824	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:100811824C>A	ENST00000323346.5	+	11	1628	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	SLC17A8_ENST00000392989.3_Missense_Mutation_p.L389M|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	439					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGTCAACCACCTGGACATTGC	0.473000													24	67					4.26978e-12	4.51146e-12	1	1	0
METTL2B	55798	broad.mit.edu	37	7	128119444	128119444	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:128119444G>A	ENST00000480046.1	+	2	355	c.240G>A	c.(238-240)tcG>tcA	p.S80S	METTL2B_ENST00000262432.8_Silent_p.S145S			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	145							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGTGTTCTTCGAAGAGCCTTG	0.408000													14	115					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486346	65486346	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:65486346G>C	ENST00000519389.1	+	21	3650	c.3471G>C	c.(3469-3471)aaG>aaC	p.K1157N	HEPH_ENST00000336279.5_Missense_Mutation_p.K836N|HEPH_ENST00000343002.2_Missense_Mutation_p.K1103N|HEPH_ENST00000419594.1_Missense_Mutation_p.K914N|HEPH_ENST00000441993.2_Missense_Mutation_p.K1105N|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106N			Q9BQS7	HEPH_HUMAN	hephaestin	1103					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.K1103N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCCCATAAAGAATGTTGAGA	0.483000													28	48					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69459589	69459589	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:69459589C>T	ENST00000374521.3	+	6	678	c.637C>T	c.(637-639)Cat>Tat	p.H213Y		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	213					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTACAGGGCTCATCTGGTCCC	0.473000													34	83					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134494649	134494649	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:134494649C>G	ENST00000339249.4	+	5	1345	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	402					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAACCCATTCTGAAGAAGAA	0.408000													39	130					0	0	1	0	0
CXorf40A	91966	broad.mit.edu	37	X	148627327	148627327	+	Translation_Start_Site	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:148627327G>A	ENST00000428236.1	+	0	214				CXorf40A_ENST00000423421.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000422892.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000423540.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000434353.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000514208.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000450602.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000441248.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000359293.5_Missense_Mutation_p.D51N|CXorf40A_ENST00000393985.3_Missense_Mutation_p.D51N			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A								protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGGAAGGCGATGCCTGGCG	0.582000													33	84					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6943159	6943159	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:6943159G>C	ENST00000317834.3	+	1	955	c.927G>C	c.(925-927)agG>agC	p.R309S		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCTTGAGGAACAAAGATG	0.423000													22	74					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318246	30318246	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:30318246C>T	ENST00000375377.1	-	3	932	c.831G>A	c.(829-831)aaG>aaA	p.K277K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	277	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGCAGCCACTCTTCTCAGAAT	0.537000													22	87					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50318532	50318532	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:50318532C>T	ENST00000404971.1	-	20	5106	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1257H(1)|p.R181H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTCGTGAAACGAACTACATG	0.473000													42	140					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12006125	12006125	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:12006125C>T	ENST00000356352.2	-	10	2541		c.e10-1		UPF2_ENST00000357604.5_Splice_Site|UPF2_ENST00000397053.2_Splice_Site			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA 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)				ACAGAAGCATCTGCAACAGGA	0.403000													26	85					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649309	48649309	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:48649309C>T	ENST00000352832.5	+	5	1029	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CACNA1G_ENST00000502264.1_Silent_p.F219F|CACNA1G_ENST00000510366.1_Silent_p.F219F|CACNA1G_ENST00000507609.1_Silent_p.F219F|CACNA1G_ENST00000507896.1_Silent_p.F219F|CACNA1G_ENST00000514181.1_Silent_p.F219F|CACNA1G_ENST00000507510.2_Silent_p.F219F|CACNA1G_ENST00000503485.1_Silent_p.F219F|CACNA1G_ENST00000507336.1_Silent_p.F219F|CACNA1G_ENST00000354983.4_Silent_p.F219F|CACNA1G_ENST00000515765.1_Silent_p.F219F|CACNA1G_ENST00000510115.1_Silent_p.F219F|CACNA1G_ENST00000429973.2_Silent_p.F219F|CACNA1G_ENST00000505165.1_Silent_p.F219F|CACNA1G_ENST00000360761.4_Silent_p.F219F|CACNA1G_ENST00000513689.2_Silent_p.F219F|CACNA1G_ENST00000359106.5_Silent_p.F219F|CACNA1G_ENST00000442258.2_Silent_p.F219F|CACNA1G_ENST00000514079.1_Silent_p.F219F|CACNA1G_ENST00000513964.1_Silent_p.F219F|CACNA1G_ENST00000515165.1_Silent_p.F219F|CACNA1G_ENST00000416767.4_Silent_p.F219F|CACNA1G_ENST00000515411.1_Silent_p.F219F|CACNA1G_ENST00000514717.1_Silent_p.F219F|CACNA1G_ENST00000358244.5_Silent_p.F219F|CACNA1G_ENST00000512389.1_Silent_p.F219F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	219					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCTCTGCTTCTTCGTCTTCT	0.602000													19	62					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230909	38230909	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:38230909G>T	ENST00000339503.4	-	8	809	c.308C>A	c.(307-309)cCc>cAc	p.P103H	ZNF573_ENST00000392138.1_Missense_Mutation_p.P74H|ZNF573_ENST00000590414.2_Missense_Mutation_p.P161H|ZNF573_ENST00000536220.1_Missense_Mutation_p.P73H|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000357309.3_Missense_Mutation_p.P73H	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GCATTCATAGGGTCTCTCAAT	0.353000													22	65					8.04996e-18	8.66918e-18	1	1	0
WDR19	57728	broad.mit.edu	37	4	39230269	39230269	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:39230269C>T	ENST00000399820.3	+	17	2095	c.1941C>T	c.(1939-1941)gaC>gaT	p.D647D	WDR19_ENST00000288634.7_Silent_p.D487D|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	647					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CGGGGCCTGACGAACTGAGAC	0.418000													25	115					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202899764	202899764	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:202899764G>C	ENST00000286201.1	+	1	455	c.394G>C	c.(394-396)Gag>Cag	p.E132Q		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	132	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCAGGGCTGCGAGGCGCTCAT	0.657000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	101					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910342	10910342	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:10910342G>C	ENST00000298232.7	-	21	1727	c.1360C>G	c.(1360-1362)Ctg>Gtg	p.L454V	TPTE_ENST00000361285.4_Missense_Mutation_p.L472V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L434V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	472	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATCATACAGAGGTAGACCG	0.338000													13	127					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77652273	77652273	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:77652273G>A	ENST00000534064.1	-	9	977	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	INTS4_ENST00000529807.1_Missense_Mutation_p.H315Y	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	315					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TCCAAGAAATGAGAACTGACT	0.358000													12	28					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866996	7866996	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:7866996C>G	ENST00000264669.5	-	2	1337	c.1201G>C	c.(1201-1203)Gaa>Caa	p.E401Q	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	401					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAAATTTTTCTGTTTGGCAA	0.403000													19	52					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319300	123319300	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:123319300G>T	ENST00000275162.4	+	2	1713	c.378G>T	c.(376-378)tgG>tgT	p.W126C	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	126	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.W126C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTGCCAATTGGGATCAGAGCA	0.468000													19	39					2.94398e-08	3.05817e-08	1	1	0
FZD2	2535	broad.mit.edu	37	17	42635642	42635642	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:42635642G>C	ENST00000315323.3	+	1	718	c.586G>C	c.(586-588)Gag>Cag	p.E196Q		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	196					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGCCACGCTGGAGCACCCCTT	0.736000													7	9					0	0	1	0	0
WDR34	89891	broad.mit.edu	37	9	131396030	131396030	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:131396030G>A	ENST00000372715.2	-	9	1664	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	535						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CCCTCAGGCCGCCACCTCTGC	0.617000													5	286					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890958	51890958	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:51890958G>C	ENST00000371117.3	-	32	3925	c.3650C>G	c.(3649-3651)tCa>tGa	p.S1217*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1217*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1217	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCTATTCCTGAGATGCTGAG	0.458000													22	50					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738832	33738832	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:33738832G>A	ENST00000394562.1	-	6	1785	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	SLFN12_ENST00000304905.5_Missense_Mutation_p.S421L|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.S421L			Q8IYM2	SLN12_HUMAN	schlafen family member 12	421							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGATCAGTGAGCCCTTTCT	0.438000													40	80					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179319497	179319497	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:179319497G>A	ENST00000367619.3	+	14	1524	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	SOAT1_ENST00000539888.1_Missense_Mutation_p.E396K|SOAT1_ENST00000535686.1_Missense_Mutation_p.E197K|SOAT1_ENST00000540564.1_Missense_Mutation_p.E403K	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	461					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGTAGTACACGAATATGCCTT	0.398000													15	38					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140785393	140785393	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:140785393C>T	ENST00000310546.2	+	2	1191	c.447C>T	c.(445-447)ctC>ctT	p.L149L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	149	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCAGCCGCCTCTACCACGACG	0.716000													3	4					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31324681	31324681	+	Missense_Mutation	SNP	C	C	T	rs137854653		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31324681C>T	ENST00000412585.2	-	2	155	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AAGCGGGGCTCCCCGCGGCCG	0.701000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				40	17					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617000													13	43					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696154	111696154	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:111696154C>G	ENST00000435970.1	-	15	3986	c.3170G>C	c.(3169-3171)aGa>aCa	p.R1057T	REV3L_ENST00000368802.3_Missense_Mutation_p.R1135T|REV3L_ENST00000368805.1_Missense_Mutation_p.R1135T|REV3L_ENST00000358835.3_Missense_Mutation_p.R1135T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1135					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTTCAGCTCTTGGATCTGT	0.388000								DNA polymerases (catalytic subunits)					33	102					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225666675	225666675	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:225666675delA	ENST00000409592.3	-	40	4446	c.4333delT	c.(4333-4335)ctfs	p.S1445fs	DOCK10_ENST00000258390.7_Frame_Shift_Del_p.S1451fs			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1451							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGGGGTTAGAAAGTGCATTT	0.373													31	73	---	---	---	---					
COL6A5	256076	broad.mit.edu	37	3	130159322	130159322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:130159322delC	ENST00000265379.6	+	35	6634	c.6140delC	c.(6139-6141)atfs	p.T2047fs	COL6A5_ENST00000432398.2_Frame_Shift_Del_p.T2047fs			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2047	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CACATCCAGACTTCCTTCCAA	0.408													22	51	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113699651	113699653	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:113699651_113699653delATC	ENST00000512097.3	+	3	1553_1555	c.535_537delATC	c.(535-537)del	p.I180del	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_In_Frame_Del_p.I180del			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	180						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCTCTCCACGATCATCCTGCTCG	0.478													31	80	---	---	---	---					
PITX1	5307	broad.mit.edu	37	5	134364847	134364848	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:134364847_134364848insA	ENST00000265340.7	-	3	982_983	c.566_567insT	c.(565-567)cgcfs	p.R189fs	PITX1_ENST00000506438.1_Frame_Shift_Ins_p.R189fs	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	189	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCGCTGGCGCCAGGCTCTTGGC	0.629													20	72	---	---	---	---					
HIST1H2BN	8341	broad.mit.edu	37	6	27806507	27806509	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:27806507_27806509delAGA	ENST00000606613.1	+	1	129_131	c.68_70delAGA	c.(67-72)cag>c	p.QK23del	HIST1H2BN_ENST00000396980.3_In_Frame_Del_p.QK23del			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	23					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						ACAAAGGCCCAGAAGAAGGACGG	0.581													64	194	---	---	---	---					
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	RNA	INS	-	-	T	rs143051118	by1000genomes	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.470													2	4	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					
THNSL1	79896	broad.mit.edu	37	10	25312196	25312197	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:25312196_25312197delAG	ENST00000524413.1	+	3	391_392	c.44_45delAG	c.(43-45)cfs	p.Q15fs	THNSL1_ENST00000376356.4_Frame_Shift_Del_p.Q15fs			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	15					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAGATAACACAGAAATGTTTTT	0.366													18	63	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													7	216	---	---	---	---					
OR9G1	390174	broad.mit.edu	37	11	56468763	56468764	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:56468763_56468764insA	ENST00000312153.1	+	1	900_901	c.900_901insA	c.(898-903)ctaaaafs	p.LK300fs		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AAGAGGCTCTGAAAAAACTTCT	0.376													10	123	---	---	---	---					
MTA2	9219	broad.mit.edu	37	11	62363756	62363756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62363756delG	ENST00000278823.2	-	11	1400	c.1011delC	c.(1009-1011)ccfs	p.P337fs	MTA2_ENST00000527204.1_Frame_Shift_Del_p.P164fs|MTA2_ENST00000524902.1_Frame_Shift_Del_p.P164fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	337					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CTTACTAGGTGGGAATGTAGA	0.502													17	23	---	---	---	---					
UFM1	51569	broad.mit.edu	37	13	38933471	38933474	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:38933471_38933474delGTGA	ENST00000379641.1	+	4	244		c.e4+1		UFM1_ENST00000379649.1_Splice_Site|UFM1_ENST00000239878.4_Splice_Site			P61960	UFM1_HUMAN	ubiquitin-fold modifier 1						protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CAGACTGCTGGTGAGTATTTGAAA	0.314													30	97	---	---	---	---					
LOC101929735	101929735	broad.mit.edu	37	14	22892202	22892202	+	RNA	DEL	A	A	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:22892202delA	ENST00000514473.2	-	0	225				AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA																							ctaaaaatacaaaaaaaaaaa	0.547													2	4	---	---	---	---					
ARHGEF18	23370	broad.mit.edu	37	19	7527213	7527216	+	Frame_Shift_Del	DEL	GAGC	GAGC	-	rs2303140		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:7527213_7527216delGAGC	ENST00000359920.6	+	11	2317_2320	c.2064_2067delGAGC	c.(2062-2067)atfs	p.MS688fs	CTD-2207O23.3_ENST00000593531.1_Frame_Shift_Del_p.*A646fs|ARHGEF18_ENST00000319670.9_Frame_Shift_Del_p.MS530fs	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	688					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.M530I(1)|p.M688I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGTCGGCCATGAGCGAGAGTAAGT	0.652													8	31	---	---	---	---					
POLD1	5424	broad.mit.edu	37	19	50902177	50902178	+	In_Frame_Ins	INS	-	-	GAT			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:50902177_50902178insGAT	ENST00000440232.2	+	2	122_123	c.69_70insGAT	c.(67-72)tgatga>tgGATatga	p.23_23*>WI	POLD1_ENST00000599857.1_In_Frame_Ins_p.23_23*>WI|POLD1_ENST00000595904.1_In_Frame_Ins_p.23_23*>WI	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	23					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGGCCTCTGGGATGATGATGA	0.653								DNA polymerases (catalytic subunits)					3	5	---	---	---	---					
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:54780707_54780709delGAG	ENST00000391748.1	-	10	1559_1561	c.1432_1434delCTC	c.(1432-1434)del	p.L478del	LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													8	170	---	---	---	---					
NPEPL1	79716	broad.mit.edu	37	20	57282209	57282209	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:57282209delG	ENST00000356091.6	+	7	1141	c.853delG	c.(853-855)ggfs	p.G286fs	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Frame_Shift_Del_p.G258fs|NPEPL1_ENST00000525817.1_Frame_Shift_Del_p.G238fs	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	286					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GCGAGACTGCGGGGGTGCTGC	0.682													2	4	---	---	---	---					
ETS2	2114	broad.mit.edu	37	21	40190567	40190568	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:40190567_40190568delTC	ENST00000360214.3	+	8	1268_1269	c.808_809delTC	c.(808-810)tfs	p.S270fs	ETS2_ENST00000360938.3_Frame_Shift_Del_p.S270fs	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	270					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CACCAACAATTCTGGTAAGATT	0.470													69	152	---	---	---	---					
LINC01399	104310353	broad.mit.edu	37	22	35561021	35561021	+	RNA	DEL	C	C	-	rs71191344		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:35561021delC	ENST00000423311.1	-	0	512																											ttgctccactcccacttatgg	0.507													4	3	---	---	---	---					
UBL4A	8266	broad.mit.edu	37	X	153714159	153714160	+	Frame_Shift_Ins	INS	-	-	G	rs150392222		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153714159_153714160insG	ENST00000369660.4	-	3	398_399	c.313_314insC	c.(313-315)ccafs	p.P105fs	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	105					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTGAAGTGGCGGGCCAAGACT	0.629													8	262	---	---	---	---					
