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
ABHD2	11057	broad.mit.edu	37	15	89738457	89738457	+	Splice_Site	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:89738457G>C	ENST00000352732.5	+	11	1601		c.e11-1		ABHD2_ENST00000565973.1_Splice_Site|ABHD2_ENST00000355100.3_Splice_Site	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2							integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCCCCTGCAGAGAAACGAGA	0.582000													19	81					0	0	0.049695	0	0
DPCD	25911	broad.mit.edu	37	10	103360965	103360965	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:103360965C>G	ENST00000370151.4	+	4	325	c.276C>G	c.(274-276)atC>atG	p.I92M	DPCD_ENST00000370148.2_Missense_Mutation_p.I92M|DPCD_ENST00000370147.1_Missense_Mutation_p.I92M	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	92							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						TGCAGCCTATCTTCATGCGCA	0.552000													10	72					0	0	0.069234	0	0
PAQR9	344838	broad.mit.edu	37	3	142681168	142681168	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:142681168G>C	ENST00000340634.3	-	1	1010	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	337						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCGGCGCCTGGAGGAACTGGC	0.582000													17	123					0	0	0.175082	0	0
RRBP1	6238	broad.mit.edu	37	20	17623689	17623689	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:17623689C>T	ENST00000377813.1	-	4	2299	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	RRBP1_ENST00000246043.4_Missense_Mutation_p.E666K|RRBP1_ENST00000360807.4_Missense_Mutation_p.E233K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E233K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E7K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	666					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CGCTGGGCCTCGCCCTCGTTG	0.637000													8	44					0	0	0.047766	0	0
PTX3	5806	broad.mit.edu	37	3	157160249	157160249	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:157160249C>T	ENST00000295927.3	+	3	772	c.627C>T	c.(625-627)gcC>gcT	p.A209A	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	209	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTTAGTGCCTGCATTTGGG	0.423000													14	87					0	0	0.132662	0	0
DIXDC1	85458	broad.mit.edu	37	11	111844775	111844775	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:111844775C>T	ENST00000440460.2	+	4	642	c.345C>T	c.(343-345)atC>atT	p.I115I	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Silent_p.I115I|DIXDC1_ENST00000529225.1_Silent_p.I114I	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	115	CH.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGAAGTCTATCATGAGGCTGG	0.512000													8	37					0	0	0.069234	0	0
WDR48	57599	broad.mit.edu	37	3	39104562	39104562	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:39104562G>C	ENST00000302313.5	+	2	98	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	24					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TATTCGAGATGAAGTGGAGAA	0.388000													9	74					0	0	0.047766	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885717	88885717	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:88885717C>T	ENST00000319675.3	-	1	579	c.483G>A	c.(481-483)gcG>gcA	p.A161A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	161								p.A161A(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGAACAGCGACGCTGGGAGCA	0.567000													41	61					0	0	0.086207	0	0
GRAMD3	65983	broad.mit.edu	37	5	125821386	125821386	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:125821386G>C	ENST00000285689.3	+	11	1440	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000502348.1_Missense_Mutation_p.E218Q|GRAMD3_ENST00000544396.1_Missense_Mutation_p.E223Q|GRAMD3_ENST00000511134.1_Missense_Mutation_p.E311Q|GRAMD3_ENST00000542322.1_Missense_Mutation_p.E335Q|GRAMD3_ENST00000515200.1_Missense_Mutation_p.E305Q|GRAMD3_ENST00000513040.1_Missense_Mutation_p.E342Q|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.E305Q	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	327										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AGGTCTGTCAGAAACTGTTGG	0.353000													6	60					0	0	0.029380	0	0
WDFY1	57590	broad.mit.edu	37	2	224809972	224809972	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:224809972C>G	ENST00000233055.4	-	1	132	c.30G>C	c.(28-30)caG>caC	p.Q10H		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	10						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGCGGCTGCTCTGCGGCCTGG	0.726000													4	27					0	0	0.150653	0	0
CARNS1	57571	broad.mit.edu	37	11	67191490	67191490	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:67191490G>C	ENST00000445895.2	+	9	2385	c.2271G>C	c.(2269-2271)ctG>ctC	p.L757L	CARNS1_ENST00000423745.2_Silent_p.L634L|CARNS1_ENST00000531040.1_Silent_p.L731L|CARNS1_ENST00000307823.3_Silent_p.L634L			A5YM72	CRNS1_HUMAN	carnosine synthase 1	634					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CTACGAGGCTGCCTGGCTTCA	0.642000													5	20					0	0	0.014758	0	0
SPEF2	79925	broad.mit.edu	37	5	35806816	35806816	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:35806816C>G	ENST00000440995.2	+	35	5003	c.5003C>G	c.(5002-5004)tCa>tGa	p.S1668*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.S1673*|SPEF2_ENST00000303129.4_Nonsense_Mutation_p.S470*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1673					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGACCTCCTCAACTGATGCA	0.388000													5	29					0	0	0.014758	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648692	41648692	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:41648692C>T	ENST00000313860.7	+	12	1501	c.1447C>T	c.(1447-1449)Ccc>Tcc	p.P483S	LIMCH1_ENST00000512946.1_Missense_Mutation_p.P483S|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P868S|LIMCH1_ENST00000396595.3_Missense_Mutation_p.P329S|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P324S|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P317S|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P483S|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P324S|LIMCH1_ENST00000512632.1_Missense_Mutation_p.P483S|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P312S|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P317S|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P471S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	483					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTGAATGACCCCAATCCCAT	0.488000													33	320					0	0	0.069456	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261527	21261527	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261527G>C	ENST00000311620.5	+	2	713	c.640G>C	c.(640-642)Gat>Cat	p.D214H		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	214										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GAAGAACAAAGATACAGCAGA	0.478000													8	72					0	0	0.047766	0	0
PHRF1	57661	broad.mit.edu	37	11	609574	609574	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:609574C>G	ENST00000264555.5	+	14	4246	c.4118C>G	c.(4117-4119)tCt>tGt	p.S1373C	PHRF1_ENST00000416188.2_Missense_Mutation_p.S1372C|PHRF1_ENST00000413872.2_Missense_Mutation_p.S1371C|PHRF1_ENST00000533464.1_Missense_Mutation_p.S1369C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1373							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GACAGCCCCTCTGCGAGTGGG	0.682000													3	13					0	0	0.150653	0	0
INPP5F	22876	broad.mit.edu	37	10	121556365	121556365	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:121556365G>C	ENST00000361976.2	+	7	974	c.808G>C	c.(808-810)Gat>Cat	p.D270H	INPP5F_ENST00000369083.3_Missense_Mutation_p.D270H	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	270	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CACCTGTGTAGATGATATTCA	0.468000													4	60					0	0	0.014758	0	0
PAK6	56924	broad.mit.edu	37	15	40565875	40565875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:40565875G>T	ENST00000455577.2	+	9	2653	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	PAK6_ENST00000441369.1_Nonsense_Mutation_p.E581*|PAK6_ENST00000560346.1_Nonsense_Mutation_p.E581*|PAK6_ENST00000260404.4_Nonsense_Mutation_p.E581*|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000542403.2_Nonsense_Mutation_p.E581*|PAK6_ENST00000453867.1_Nonsense_Mutation_p.E581*	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	581	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GTATGCCACTGAGGTAACCGT	0.572000													7	43					8.12818e-05	8.55957e-05	0.029380	1	0
OSGIN2	734	broad.mit.edu	37	8	90937302	90937302	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:90937302C>T	ENST00000451899.2	+	6	1452	c.1192C>T	c.(1192-1194)Cat>Tat	p.H398Y	OSGIN2_ENST00000297438.2_Missense_Mutation_p.H354Y	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	354					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCTGAATATCATAAAGTCTA	0.368000													15	131					0	0	0.132662	0	0
EML1	2009	broad.mit.edu	37	14	100363569	100363569	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:100363569G>A	ENST00000262233.6	+	7	904	c.765G>A	c.(763-765)gtG>gtA	p.V255V	EML1_ENST00000327921.9_Silent_p.V243V|EML1_ENST00000334192.4_Silent_p.V274V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	255						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCGTGGTGGTGTTATACAACG	0.532000													9	57					0	0	0.047766	0	0
GPR63	81491	broad.mit.edu	37	6	97247016	97247016	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:97247016G>A	ENST00000229955.3	-	2	937	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	GPR63_ENST00000417980.1_Silent_p.L198L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	198						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACTGCAATCAGAACCTTAGCT	0.458000													5	109					0	0	0.029380	0	0
PRSS53	339105	broad.mit.edu	37	16	31095655	31095655	+	Splice_Site	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:31095655C>T	ENST00000280606.6	-	10	1580	c.1425_splice	c.e10-1	p.G476_splice		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	476	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CCCAGACAGGCCCTGTCAGGG	0.632000													3	32					0	0	0.115264	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572114	76572114	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:76572114G>A	ENST00000307431.8	+	20	3479	c.3094G>A	c.(3094-3096)Ggt>Agt	p.G1032S	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G984S|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G960S|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G1036S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1033					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTCATTTCATGGTGATATGAA	0.373000													9	84					0	0	0.058154	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134270	91134270	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:91134270C>G	ENST00000373094.1	+	2	3876	c.3031C>G	c.(3031-3033)Ccg>Gcg	p.P1011A	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1011A|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1011A|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P1011A|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1011A|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1011A|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1011A|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P1011A|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P1011A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1011					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACACACCAGACCGGTAGGTAT	0.403000													18	94					0	0	0.055883	0	0
NAA35	60560	broad.mit.edu	37	9	88557141	88557141	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:88557141G>C	ENST00000361671.5	+	2	200	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	NAA35_ENST00000376040.1_Missense_Mutation_p.E23Q	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	23					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGAAAAAATGGAGAAAAGCAA	0.398000													12	77					0	0	0.105934	0	0
FAM208B	54906	broad.mit.edu	37	10	5789105	5789105	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:5789105C>T	ENST00000328090.5	+	15	4346	c.3721C>T	c.(3721-3723)Cac>Tac	p.H1241Y		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1241																	AAGGAAGAATCACAAGAATGG	0.423000													8	61					0	0	0.047766	0	0
METTL9	51108	broad.mit.edu	37	16	21624068	21624068	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21624068G>A	ENST00000358154.3	+	2	526	c.268G>A	c.(268-270)Gag>Aag	p.E90K	METTL9_ENST00000396014.4_Missense_Mutation_p.E90K	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	90										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		CAACAGCATTGAGAAATCGGG	0.373000													6	73					0	0	0.029380	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626898	108626898	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:108626898G>T	ENST00000264047.2	+	9	1600	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G442C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G337C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	442					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTATGTTTCTGGCCTCTTCCT	0.453000													8	67					0.00307968	0.00318093	0.038147	1	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629200	1629200	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:1629200G>C	ENST00000399685.1	-	1	493	c.416C>G	c.(415-417)tCa>tGa	p.S139*		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	139	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCACAGCCTGAGGAGCAGCA	0.627000													26	156					0	0	0.099896	0	0
LRIT2	340745	broad.mit.edu	37	10	85981835	85981835	+	Silent	SNP	G	G	A	rs140185624	byFrequency	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:85981835G>A	ENST00000372113.4	-	3	1499	c.1494C>T	c.(1492-1494)cgC>cgT	p.R498R	LRIT2_ENST00000538192.1_Silent_p.R508R	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	498						integral to membrane		p.R498R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GAAGACAGCCGCGCAGGACCC	0.632000													18	65					0	0	0.175082	0	0
ZNF300	91975	broad.mit.edu	37	5	150276107	150276107	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:150276107C>G	ENST00000446148.2	-	7	1169	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	ZNF300_ENST00000418587.2_Missense_Mutation_p.E196Q|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.E232Q|ZNF300_ENST00000274599.5_Missense_Mutation_p.E232Q	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATCTTCTCAAGATTAGAA	0.353000													22	121					0	0	0.055883	0	0
ELMO1	9844	broad.mit.edu	37	7	37172813	37172813	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:37172813G>A	ENST00000310758.4	-	14	1760	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ELMO1_ENST00000341056.3_Silent_p.F73F|ELMO1_ENST00000442504.1_Silent_p.F371F|ELMO1_ENST00000448602.1_Silent_p.F371F	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	371	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGTCTGCGTGAAGTCCATGG	0.468000													14	141					0	0	0.146539	0	0
KCNA6	3742	broad.mit.edu	37	12	4919508	4919508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:4919508C>T	ENST00000433855.1	+	1	1167	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	KCNA6_ENST00000280684.3_Nonsense_Mutation_p.Q101*	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	101						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTACTACTACCAGTCTGGGGG	0.657000										HNSCC(72;0.22)			17	69					0	0	0.043863	0	0
FGFR4	2264	broad.mit.edu	37	5	176519745	176519745	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:176519745C>T	ENST00000292408.4	+	8	1262	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	FGFR4_ENST00000393637.1_Silent_p.I339I|FGFR4_ENST00000502906.1_Silent_p.I339I|FGFR4_ENST00000393648.2_Silent_p.I339I|FGFR4_ENST00000292410.3_Silent_p.I339I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	339	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCAATTCCATCGGCCTCTCCT	0.632000										TSP Lung(9;0.080)			4	52					0	0	0.150653	0	0
OR2H1	26716	broad.mit.edu	37	6	29430385	29430385	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:29430385C>G	ENST00000377136.1	+	4	1304	c.839C>G	c.(838-840)aCt>aGt	p.T280S	OR2H1_ENST00000442615.1_Missense_Mutation_p.T280S|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.T280S|OR2H1_ENST00000377132.1_Missense_Mutation_p.T280S|OR2H1_ENST00000396792.2_Missense_Mutation_p.T280S			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GCAGTGGGCACTCCTTCACTT	0.512000													14	91					0	0	0.105934	0	0
RPS15	6209	broad.mit.edu	37	19	1440120	1440120	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:1440120G>C	ENST00000591804.2	+	4	419	c.93G>C	c.(91-93)aaG>aaC	p.K31N	RPS15_ENST00000585665.1_Missense_Mutation_p.K31N|RPS15_ENST00000586096.2_Missense_Mutation_p.K64N|RPS15_ENST00000593052.1_Missense_Mutation_p.K71N|RPS15_ENST00000591032.1_Missense_Mutation_p.K31N|RPS15_ENST00000233609.4_Missense_Mutation_p.K37N|RPS15_ENST00000589656.2_Missense_Mutation_p.K64N|RPS15_ENST00000586686.2_Missense_Mutation_p.K64N			P62841	RS15_HUMAN	ribosomal protein S15	64					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding	p.K64K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GCAAGGCCAAGAAGGAGGCGC	0.662000													3	17					0	0	0.115264	0	0
GPS2	2874	broad.mit.edu	37	17	7216603	7216603	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:7216603G>C	ENST00000380728.2	-	9	1032	c.732C>G	c.(730-732)ctC>ctG	p.L244L	GPS2_ENST00000389167.5_Silent_p.L244L|GPS2_ENST00000391950.3_Silent_p.L244L|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	244					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CACCAGGCTGGAGGAAACCTA	0.557000											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	73					0	0	0.160694	0	0
SPOCD1	90853	broad.mit.edu	37	1	32257825	32257825	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:32257825C>T	ENST00000360482.2	-	15	3082	c.2953G>A	c.(2953-2955)Ggg>Agg	p.G985R	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G985R|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G478R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	985					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTGGGCCCCCCAAAGGGCGC	0.662000													3	7					0	0	0.115264	0	0
LRG1	116844	broad.mit.edu	37	19	4538721	4538721	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:4538721G>C	ENST00000306390.6	-	2	735	c.275C>G	c.(274-276)tCt>tGt	p.S92C	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	92						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGAGCTTAGAGGCGCCCTG	0.627000													6	29					0	0	0.021553	0	0
ATG13	9776	broad.mit.edu	37	11	46687010	46687010	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:46687010G>C	ENST00000434074.1	+	12	1667	c.978G>C	c.(976-978)gaG>gaC	p.E326D	ATG13_ENST00000451945.1_Missense_Mutation_p.E289D|ATG13_ENST00000529655.1_Missense_Mutation_p.E289D|ATG13_ENST00000312040.4_Missense_Mutation_p.E326D|ATG13_ENST00000359513.4_Missense_Mutation_p.E326D|ATG13_ENST00000526508.1_Missense_Mutation_p.E326D|ATG13_ENST00000528494.1_Missense_Mutation_p.E359D|ATG13_ENST00000530500.1_Missense_Mutation_p.E210D|ATG13_ENST00000524625.1_Missense_Mutation_p.E289D	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	326					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CTGACCAGGAGAGACTGGCAA	0.562000													9	64					0	0	0.047766	0	0
TRIM15	89870	broad.mit.edu	37	6	30131831	30131831	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:30131831C>G	ENST00000376694.4	+	1	839	c.370C>G	c.(370-372)Cag>Gag	p.Q124E	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	124					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGCCATTCAGCCCTACCG	0.577000													11	42					0	0	0.093190	0	0
NMNAT1	64802	broad.mit.edu	37	1	10032236	10032236	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:10032236G>C	ENST00000377205.1	+	2	249	c.105G>C	c.(103-105)atG>atC	p.M35I	NMNAT1_ENST00000492735.1_3'UTR|NMNAT1_ENST00000403197.1_Missense_Mutation_p.M35I	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	35					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)		AGGACTACATGAATGGAACAG	0.493000													29	150					0	0	0.144211	0	0
FOXK1	221937	broad.mit.edu	37	7	4800700	4800700	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:4800700G>C	ENST00000328914.4	+	8	1702	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	FOXK1_ENST00000446823.1_Missense_Mutation_p.E405Q	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	568					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGCAGGCCTGGAGGAGAAACC	0.637000													9	94					0	0	0.069234	0	0
UPF1	5976	broad.mit.edu	37	19	18943117	18943117	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:18943117C>G	ENST00000262803.5	+	1	371	c.99C>G	c.(97-99)ttC>ttG	p.F33L	UPF1_ENST00000599848.1_Missense_Mutation_p.F33L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	33	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCTCCGAGTTCGAGTTCACCG	0.731000													21	69					0	0	0.099896	0	0
FLNA	2316	broad.mit.edu	37	X	153580056	153580056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:153580056C>A	ENST00000422373.1	-	42	7140	c.6892G>T	c.(6892-6894)Gaa>Taa	p.E2298*	FLNA_ENST00000369850.3_Nonsense_Mutation_p.E2306*|FLNA_ENST00000344736.4_Nonsense_Mutation_p.E2266*|FLNA_ENST00000360319.4_Nonsense_Mutation_p.E2298*|FLNA_ENST00000369856.3_Nonsense_Mutation_p.E439*	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2306					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)					ACTGAGACTTCGTAGTCACCT	0.597000													6	34					0.0293803	0.0299362	0.029380	1	0
RIN2	54453	broad.mit.edu	37	20	19981362	19981362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:19981362G>C	ENST00000255006.6	+	12	2766	c.2617G>C	c.(2617-2619)Gag>Cag	p.E873Q	RIN2_ENST00000440354.2_Missense_Mutation_p.E391Q|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	824	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GATCTGCGCTGAGAAGTTCAA	0.517000													13	118					0	0	0.093190	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200015	26200015	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:26200015G>A	ENST00000359985.1	+	1	268	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E77K(3)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CATCGCTGGCGAGGCTTCCCG	0.612000													11	155					0	0	0.093190	0	0
INO80	54617	broad.mit.edu	37	15	41387980	41387980	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:41387980G>A	ENST00000361937.3	-	3	714	c.290C>T	c.(289-291)tCt>tTt	p.S97F	INO80_ENST00000401393.3_Missense_Mutation_p.S97F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	97	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCATTCAGAGAATATGTGTT	0.418000													6	73					0	0	0.029380	0	0
RNF151	146310	broad.mit.edu	37	16	2017315	2017315	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:2017315A>G	ENST00000569210.2	+	2	103	c.44A>G	c.(43-45)gAc>gGc	p.D15G	RNF151_ENST00000321392.3_Missense_Mutation_p.D14G|RNF151_ENST00000569714.1_Missense_Mutation_p.D15G			Q2KHN1	RN151_HUMAN	ring finger protein 151	15					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						AGCCCTCCTGACAGCAACTTC	0.582000													8	50					0	0	0.038147	0	0
OR8K5	219453	broad.mit.edu	37	11	55927105	55927105	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:55927105G>A	ENST00000313447.1	-	1	688	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCCTCTGCAGAATGCATTTG	0.398000													8	40					0	0	0.038147	0	0
COL22A1	169044	broad.mit.edu	37	8	139890087	139890087	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:139890087G>A	ENST00000303045.6	-	3	1010	c.564C>T	c.(562-564)atC>atT	p.I188I	COL22A1_ENST00000435777.1_Silent_p.I188I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	188	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCTCTGAGGCGATCTCCTCCA	0.652000										HNSCC(7;0.00092)			6	34					0	0	0.021553	0	0
RYR3	6263	broad.mit.edu	37	15	33955886	33955886	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:33955886C>T	ENST00000389232.4	+	36	5637	c.5567C>T	c.(5566-5568)gCg>gTg	p.A1856V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1856V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1856	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACATGTCTGCGGCCCTGACT	0.552000													3	16					0	0	0.150653	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164001	150164001	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:150164001C>T	ENST00000307271.3	+	2	789	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	72						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTTTTCTCCTCAATAGCTTGT	0.493000													26	140					0	0	0.116897	0	0
DUSP26	78986	broad.mit.edu	37	8	33454978	33454978	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:33454978C>T	ENST00000256261.4	-	2	573	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	DUSP26_ENST00000523956.1_Missense_Mutation_p.R19Q	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	19						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TGAGCTACTCCGGGAGAAGCG	0.557000													9	51					0	0	0.069234	0	0
HIRA	7290	broad.mit.edu	37	22	19384358	19384358	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:19384358C>T	ENST00000263208.5	-	7	862	c.606G>A	c.(604-606)agG>agA	p.R202R	HIRA_ENST00000541063.1_Silent_p.R158R|HIRA_ENST00000340170.4_Silent_p.R202R|HIRA_ENST00000546308.1_Silent_p.R158R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	202					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGTCCAGCGTCCTCCACACCT	0.557000													8	79					0	0	0.038147	0	0
HIPK3	10114	broad.mit.edu	37	11	33363124	33363124	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:33363124G>A	ENST00000303296.4	+	8	2094	c.1789G>A	c.(1789-1791)Gct>Act	p.A597T	HIPK3_ENST00000525975.1_Missense_Mutation_p.A597T|HIPK3_ENST00000379016.3_Missense_Mutation_p.A597T|HIPK3_ENST00000456517.1_Missense_Mutation_p.A597T	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	597					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GACCACATCTGCTCATTCAGT	0.413000													39	318					0	0	0.111260	0	0
SMAD2	4087	broad.mit.edu	37	18	45374862	45374862	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr18:45374862C>G	ENST00000402690.2	-	8	1375	c.981G>C	c.(979-981)atG>atC	p.M327I	SMAD2_ENST00000262160.6_Missense_Mutation_p.M327I|SMAD2_ENST00000586040.1_Missense_Mutation_p.M297I|SMAD2_ENST00000356825.4_Missense_Mutation_p.M297I|SMAD2_ENST00000591214.1_Missense_Mutation_p.M297I	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	327	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GCCTTCTTGTCATTTCTACCG	0.398000													7	64					0	0	0.029380	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239804	135239804	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:135239804C>T	ENST00000265605.2	-	7	1281	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.E351K|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.E355K	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	405					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACCTCCTCTTCACTATCAAAG	0.517000													7	74					0	0	0.029380	0	0
FAM43A	131583	broad.mit.edu	37	3	194408636	194408636	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:194408636G>T	ENST00000329759.4	+	1	2015	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	361										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		TAGCGACCTGGGCGAGCTCAG	0.711000													4	15					0.00909568	0.00934352	0.150653	1	0
DGCR8	54487	broad.mit.edu	37	22	20094865	20094865	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:20094865A>G	ENST00000351989.3	+	12	2497	c.2068A>G	c.(2068-2070)Aac>Gac	p.N690D	DGCR8_ENST00000407755.1_Missense_Mutation_p.N657D|DGCR8_ENST00000383024.2_Missense_Mutation_p.N657D	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	690	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					ACATGTCAAGAACTGGGGGTC	0.537000													6	108					0	0	0.029380	0	0
SFN	2810	broad.mit.edu	37	1	27190100	27190100	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:27190100G>A	ENST00000339276.4	+	1	468	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	133					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	p.E133K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CTACCTGGCCGAGGTGGCCAC	0.622000													10	50					0	0	0.069234	0	0
RGS22	26166	broad.mit.edu	37	8	100975155	100975155	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:100975155G>C	ENST00000360863.6	-	25	3861	c.3667C>G	c.(3667-3669)Ctt>Gtt	p.L1223V	RGS22_ENST00000523437.1_Missense_Mutation_p.L1211V|RGS22_ENST00000523287.1_Missense_Mutation_p.L1042V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1223					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.L1223I(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTTAAGAAGAATTCTCTCC	0.308000													4	35					0	0	0.014758	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876597	53876597	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:53876597C>T	ENST00000267079.2	-	12	2116	c.1891G>A	c.(1891-1893)Gat>Aat	p.D631N	MAP3K12_ENST00000547035.1_Missense_Mutation_p.D664N|MAP3K12_ENST00000547488.1_Missense_Mutation_p.D664N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	631					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GAGCCAGGATCCCCAGCTCCG	0.667000													16	41					0	0	0.132662	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048203	102048203	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:102048203C>G	ENST00000353274.3	-	15	2665	c.2283G>C	c.(2281-2283)taG>taC	p.*761Y	PKD2L1_ENST00000338519.3_Missense_Mutation_p.E715Q|PKD2L1_ENST00000318222.3_Missense_Mutation_p.E790Q			Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	0					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCCTCTCCTCTAAGGCTTCC	0.488000													24	132					0	0	0.091800	0	0
MICALL2	79778	broad.mit.edu	37	7	1477794	1477794	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:1477794C>T	ENST00000297508.7	-	12	2425	c.2250G>A	c.(2248-2250)cgG>cgA	p.R750R	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Silent_p.R538R	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	750						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCGTCCAGCCGCCTCTCGA	0.726000													2	3					0	0	0.115264	0	0
BCAN	63827	broad.mit.edu	37	1	156618362	156618362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:156618362G>C	ENST00000329117.4	+	6	1108	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E258Q	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	258	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ccacCCAGGAGAACTGTTCCT	0.592000													11	80					0	0	0.080935	0	0
AC015849.16	0	broad.mit.edu	37	17	34236190	34236190	+	RNA	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:34236190C>T	ENST00000587132.1	-	0	1837																											ATAGAGGATTCAACCTCCATA	0.473000													16	39					0	0	0.132662	0	0
CSE1L	1434	broad.mit.edu	37	20	47691914	47691914	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:47691914G>C	ENST00000262982.2	+	12	1315	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	CSE1L_ENST00000396192.3_Missense_Mutation_p.E342Q|CSE1L_ENST00000542325.1_Missense_Mutation_p.E181Q	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	398					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CAAGTTTTTTGAGGGACCTGT	0.383000													7	97					0	0	0.058154	0	0
NR4A1	3164	broad.mit.edu	37	12	52448880	52448880	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:52448880G>C	ENST00000545748.1	+	3	1925	c.930G>C	c.(928-930)cgG>cgC	p.R310R	NR4A1_ENST00000394825.1_Silent_p.R256R|NR4A1_ENST00000243050.1_Silent_p.R256R|NR4A1_ENST00000394824.2_Silent_p.R256R|NR4A1_ENST00000550082.1_Silent_p.R269R|NR4A1_ENST00000360284.3_Silent_p.R269R|NR4A1_ENST00000548232.1_Silent_p.R256R			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	256					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCAAGGCCCGGAGCGGGGCCC	0.612000													13	117					0	0	0.119110	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126188	19126188	+	Silent	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:19126188C>A	ENST00000381440.3	+	1	935	c.405C>A	c.(403-405)cgC>cgA	p.R135R	CTD-2349B8.1_ENST00000564808.2_3'UTR	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	135						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGGCTGGCCGCGCCCGGGGGT	0.667000													3	6					6.4e-05	6.75854e-05	0.115264	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332372	100332372	+	RNA	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:100332372G>T	ENST00000341853.1	-	0	1819					NR_003260.1																						TGTTGCTGCCGAGATGTGACC	0.592000													28	120					4.74835e-14	5.21904e-14	0.153744	1	0
SLC12A4	6560	broad.mit.edu	37	16	67985892	67985892	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:67985892G>C	ENST00000422611.2	-	7	1011	c.972C>G	c.(970-972)atC>atG	p.I324M	SLC12A4_ENST00000576616.1_Missense_Mutation_p.I322M|SLC12A4_ENST00000537830.2_Missense_Mutation_p.I316M|SLC12A4_ENST00000338335.3_Missense_Mutation_p.I322M|SLC12A4_ENST00000541864.2_Missense_Mutation_p.I291M|SLC12A4_ENST00000316341.3_Missense_Mutation_p.I322M|SLC12A4_ENST00000572037.1_Missense_Mutation_p.I274M	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	322					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTTGGCACAGATGTCAAACT	0.587000													4	28					0	0	0.021553	0	0
CST9L	128821	broad.mit.edu	37	20	23546668	23546668	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:23546668C>G	ENST00000376979.3	-	2	595	c.297G>C	c.(295-297)ggG>ggC	p.G99G		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	99						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTTCAAATTTCCCACACCTAG	0.468000													22	205					0	0	0.083992	0	0
APAF1	317	broad.mit.edu	37	12	99093306	99093306	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:99093306G>A	ENST00000357310.1	+	17	3002	c.2425G>A	c.(2425-2427)Gat>Aat	p.D809N	APAF1_ENST00000549007.1_Missense_Mutation_p.D809N|APAF1_ENST00000339433.3_Missense_Mutation_p.D809N|APAF1_ENST00000550527.1_Missense_Mutation_p.D798N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.D809N|APAF1_ENST00000359972.2_Missense_Mutation_p.D798N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.D809N	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	809					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTGGTCTGCTGATGGTGCAAG	0.358000													10	49					0	0	0.069234	0	0
PNN	5411	broad.mit.edu	37	14	39650613	39650613	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:39650613G>C	ENST00000216832.4	+	9	1767	c.1700G>C	c.(1699-1701)aGa>aCa	p.R567T	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	567	Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GGTCGAGCTAGAAATAAAACA	0.453000													4	52					0	0	0.150653	0	0
KIAA0141	9812	broad.mit.edu	37	5	141307791	141307791	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:141307791C>T	ENST00000432126.2	+	4	474	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	KIAA0141_ENST00000194118.4_Missense_Mutation_p.R114W	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	114					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTCAGCGGGTAGAACA	0.612000													11	67					0	0	0.080935	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71189955	71189955	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:71189955C>T	ENST00000234396.4	+	9	907	c.834C>T	c.(832-834)ttC>ttT	p.F278F	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.F278F	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	278					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTGCTGAATTCCTTGCCTACC	0.582000													11	69					0	0	0.146539	0	0
C8orf31	286122	broad.mit.edu	37	8	144124445	144124445	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:144124445C>G	ENST00000395172.1	+	2	379	c.27C>G	c.(25-27)tcC>tcG	p.S9S	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	9										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCAGAATTCCTGCAATTCAG	0.582000													11	116					0	0	0.069234	0	0
PRR12	57479	broad.mit.edu	37	19	50099779	50099779	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:50099779G>C	ENST00000418929.2	+	4	2199	c.2187G>C	c.(2185-2187)aaG>aaC	p.K729N		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	453							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGAGAAGAAGAAAGGGCCAG	0.652000													5	15					0	0	0.029380	0	0
SFI1	9814	broad.mit.edu	37	22	31927062	31927062	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:31927062C>G	ENST00000432498.1	+	4	678	c.285C>G	c.(283-285)ttC>ttG	p.F95L	SFI1_ENST00000414585.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000400288.2_Missense_Mutation_p.F95L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	95					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCAGAAAGTTCTTATATTTAT	0.358000													5	85					0	0	0.014758	0	0
EDC3	80153	broad.mit.edu	37	15	74967310	74967310	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:74967310G>A	ENST00000315127.4	-	2	337	c.156C>T	c.(154-156)gtC>gtT	p.V52V	EDC3_ENST00000568176.1_Silent_p.V52V|EDC3_ENST00000426797.3_Silent_p.V52V	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	52	Required for P-body targeting and interaction with DCP1A (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACCTGAAGGTGACTTCTGGAA	0.498000													29	176					0	0	0.125774	0	0
TFR2	7036	broad.mit.edu	37	7	100229801	100229801	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:100229801G>A	ENST00000462107.1	-	8	1157	c.870C>T	c.(868-870)ttC>ttT	p.F290F	TFR2_ENST00000223051.3_Silent_p.F290F|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Intron			Q9UP52	TFR2_HUMAN	transferrin receptor 2	290					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTGAGCCCCGAAGTCCTGAG	0.557000													18	87					0	0	0.076483	0	0
HECTD1	25831	broad.mit.edu	37	14	31637671	31637671	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:31637671C>G	ENST00000399332.1	-	10	1943	c.1455G>C	c.(1453-1455)tgG>tgC	p.W485C	HECTD1_ENST00000553700.1_Missense_Mutation_p.W485C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	485					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGGACACATCCAATCACCTA	0.308000													19	145					0	0	0.175082	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261982	21261982	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261982G>T	ENST00000311620.5	+	2	1168	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	365	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTATCTTCAAGAGAGAGCAGA	0.502000													9	69					0.000274275	0.000286431	0.047766	1	0
FBXO10	26267	broad.mit.edu	37	9	37512610	37512610	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:37512610C>T	ENST00000432825.2	-	11	2853	c.2805G>A	c.(2803-2805)acG>acA	p.T935T	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.T460T	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	935						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CTGTGATCCTCGTTGCCATGG	0.607000													14	117					0	0	0.160694	0	0
CDK13	8621	broad.mit.edu	37	7	40041594	40041594	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:40041594G>C	ENST00000181839.4	+	5	2922	c.2317G>C	c.(2317-2319)Gat>Cat	p.D773H	CDK13_ENST00000340829.5_Missense_Mutation_p.D773H|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	773	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AATAGTGACTGATAAAGAAGA	0.323000													16	78					0	0	0.160694	0	0
NES	10763	broad.mit.edu	37	1	156641455	156641455	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:156641455G>C	ENST00000368223.3	-	4	2657	c.2525C>G	c.(2524-2526)tCt>tGt	p.S842C		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	842	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTTTCTGGAGATTTCAGTGT	0.433000													12	126					0	0	0.105934	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73074301	73074301	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:73074301G>C	ENST00000263674.3	+	15	5397	c.5047G>C	c.(5047-5049)Gag>Cag	p.E1683Q		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1683					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CACCAGCTCAGAGGAGGAGCA	0.637000													3	14					0	0	0.115264	0	0
OFD1	8481	broad.mit.edu	37	X	13778324	13778324	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:13778324A>T	ENST00000380567.1	+	17	2197	c.1325A>T	c.(1324-1326)aAt>aTt	p.N442I	OFD1_ENST00000380550.3_Missense_Mutation_p.N542I|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.N582I			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	582					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGCCTTGCAATGGTGAGATA	0.423000													19	108					0	0	0.055883	0	0
VWA8	23078	broad.mit.edu	37	13	42352181	42352181	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:42352181C>T	ENST00000379310.3	-	20	2357	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V	VWA8_ENST00000281496.6_Silent_p.V763V	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TATCTTCCATCACTATCACAT	0.323000													14	128					0	0	0.132662	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161753	90161753	+	RNA	SNP	T	T	C	rs6500470	by1000genomes	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:90161753T>C	ENST00000567960.1	+	0	489				TUBB8P7_ENST00000564451.1_RNA																							CAGACAGGATTATAAACACAT	0.562000													3	87					0	0	0.115264	0	0
ARMC9	80210	broad.mit.edu	37	2	232146798	232146798	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:232146798G>A	ENST00000349938.4	+	17	1772	c.1578G>A	c.(1576-1578)ctG>ctA	p.L526L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	526							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATGGAGCTCTGTACAGCATCC	0.428000													16	143					0	0	0.160694	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570821	47570821	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:47570821C>T	ENST00000253048.5	-	15	2741	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	902							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGCTGCCTTCGGGCTTGGAG	0.697000													5	22					0	0	0.014758	0	0
GALNT14	79623	broad.mit.edu	37	2	31133797	31133797	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:31133797C>T	ENST00000349752.5	-	15	2268	c.1629G>A	c.(1627-1629)atG>atA	p.M543I	GALNT14_ENST00000356174.3_Missense_Mutation_p.M510I|GALNT14_ENST00000324589.5_Missense_Mutation_p.M548I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.M508I|GALNT14_ENST00000406653.1_Missense_Mutation_p.M523I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	543	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGTGCTGGCTCATGAGTGAGG	0.567000													8	67					0	0	0.038147	0	0
LAMA4	3910	broad.mit.edu	37	6	112537671	112537671	+	Splice_Site	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:112537671C>T	ENST00000230538.7	-	3	593		c.e3-1		LAMA4_ENST00000522006.1_Splice_Site|LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000431543.2_Splice_Site|LAMA4_ENST00000524032.1_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATTGCATTTCTGCAACAGAC	0.393000													9	40					0	0	0.069234	0	0
ARID1B	57492	broad.mit.edu	37	6	157522076	157522076	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:157522076G>A	ENST00000346085.5	+	18	4349	c.4348G>A	c.(4348-4350)Ggc>Agc	p.G1450S	ARID1B_ENST00000275248.4_Missense_Mutation_p.G1432S|ARID1B_ENST00000367148.1_Missense_Mutation_p.G1490S|ARID1B_ENST00000350026.5_Missense_Mutation_p.G1437S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1437					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGATGGGCGGCCCGCTGCA	0.637000													10	29					0	0	0.069234	0	0
CCDC135	84229	broad.mit.edu	37	16	57741450	57741450	+	Missense_Mutation	SNP	G	G	A	rs116219187	by1000genomes	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:57741450G>A	ENST00000360716.3	+	8	1158	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CCDC135_ENST00000394337.4_Missense_Mutation_p.E313K|CCDC135_ENST00000336825.8_Missense_Mutation_p.E248K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	313						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGGAAGCGCGAGGTGCCTGA	0.587000													4	35					0	0	0.014758	0	0
RNF24	11237	broad.mit.edu	37	20	3944599	3944599	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:3944599G>A	ENST00000336095.5	-	2	317	c.66C>T	c.(64-66)ctC>ctT	p.L22L	RNF24_ENST00000545616.1_Silent_p.L43L|RNF24_ENST00000432261.2_Silent_p.L43L|RNF24_ENST00000358395.6_Silent_p.L22L	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	22						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TATATATGTTGAGAGGCAGAT	0.363000													7	62					0	0	0.038147	0	0
CHD7	55636	broad.mit.edu	37	8	61736506	61736506	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:61736506C>T	ENST00000423902.2	+	13	3788	c.3309C>T	c.(3307-3309)gtC>gtT	p.V1103V	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Silent_p.V1103V	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1103	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTGTGTAGTCATTGATGAAG	0.453000													13	118					0	0	0.105934	0	0
SPEN	23013	broad.mit.edu	37	1	16259153	16259153	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:16259153G>C	ENST00000375759.3	+	11	6622	c.6418G>C	c.(6418-6420)Gat>Cat	p.D2140H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2140	Interaction with MSX2 (By similarity).				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)		GTTGAAAAGTGATCCAGTTGA	0.547000													26	115					0	0	0.091800	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781747	128781747	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:128781747C>G	ENST00000529694.1	+	2	955	c.579C>G	c.(577-579)ccC>ccG	p.P193P	KCNJ5_ENST00000533599.1_Silent_p.P193P|KCNJ5_ENST00000338350.4_Silent_p.P193P	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	193					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TCAGCCAGCCCAAGAAGAGAG	0.562000													14	97					0	0	0.119110	0	0
KPNA6	23633	broad.mit.edu	37	1	32622524	32622524	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:32622524C>G	ENST00000373625.3	+	3	302	c.209C>G	c.(208-210)tCt>tGt	p.S70C	KPNA6_ENST00000537234.1_Missense_Mutation_p.S67C|KPNA6_ENST00000545542.1_Missense_Mutation_p.S75C|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	70					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCATGGACTCTTATGTGAGC	0.458000													5	78					0	0	0.021553	0	0
FDX1	2230	broad.mit.edu	37	11	110327657	110327657	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:110327657C>G	ENST00000260270.2	+	3	564	c.326C>G	c.(325-327)aCc>aGc	p.T109S		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	109	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGTGAGGGAACCCTGGCTTGT	0.418000													27	144					0	0	0.144211	0	0
HMCN1	83872	broad.mit.edu	37	1	186086731	186086731	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:186086731G>C	ENST00000271588.4	+	77	12053	c.11824G>C	c.(11824-11826)Gat>Cat	p.D3942H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D3942H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3942	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCCAGGGGAGATGGCTATAG	0.423000													7	86					0	0	0.047766	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778792	31778792	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:31778792C>T	ENST00000375654.4	-	2	1147	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E320K	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	320					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGCGCTTTTTCTACAGGCTCC	0.488000													10	65					0	0	0.080935	0	0
POLR3A	11128	broad.mit.edu	37	10	79742546	79742546	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:79742546G>C	ENST00000372371.3	-	27	3596	c.3459C>G	c.(3457-3459)atC>atG	p.I1153M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1153					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGGATGTGCAGATGGAATATC	0.507000													7	41					0	0	0.038147	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181841	81181841	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:81181841G>C	ENST00000394685.3	+	10	1413	c.994G>C	c.(994-996)Gat>Cat	p.D332H	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D332H|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D332H			Q8WUJ3	K1199_HUMAN	KIAA1199	332										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTTCGATCATGATAAAGTATC	0.463000													3	87					0	0	0.115264	0	0
SACS	26278	broad.mit.edu	37	13	23913992	23913992	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:23913992G>C	ENST00000382298.3	-	10	4611	c.4023C>G	c.(4021-4023)ctC>ctG	p.L1341L	SACS_ENST00000382292.3_Silent_p.L1341L|SACS_ENST00000402364.1_Silent_p.L591L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1341					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTCACTTTTGAGATATATCT	0.358000													12	40					0	0	0.093190	0	0
KIF20B	9585	broad.mit.edu	37	10	91505671	91505671	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:91505671C>G	ENST00000416354.1	+	23	4213	c.4141C>G	c.(4141-4143)Cag>Gag	p.Q1381E	KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1351E|KIF20B_ENST00000371728.3_Missense_Mutation_p.Q1351E|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1311E|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1351					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GTTAAATAATCAGAAAGTGGA	0.338000													3	30					0	0	0.115264	0	0
PCLO	27445	broad.mit.edu	37	7	82453635	82453635	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:82453635T>C	ENST00000423517.2	-	19	14850	c.14513A>G	c.(14512-14514)cAt>cGt	p.H4838R	PCLO_ENST00000333891.8_Missense_Mutation_p.H4838R|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4700					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGACTGGAATGAGACTTGCC	0.433000													9	38					0	0	0.047766	0	0
COMMD9	29099	broad.mit.edu	37	11	36300091	36300091	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:36300091G>A	ENST00000263401.5	-	3	269	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F	COMMD9_ENST00000532705.1_Missense_Mutation_p.L85F|COMMD9_ENST00000452374.2_Missense_Mutation_p.L43F	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	85										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TCTGGAAAGAGAGCCAGAATT	0.483000													11	350					0	0	0.069234	0	0
ZNF614	80110	broad.mit.edu	37	19	52519444	52519444	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:52519444G>A	ENST00000270649.6	-	5	1951	c.1407C>T	c.(1405-1407)tgC>tgT	p.C469C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTTGTATGAGGCATATTTTCT	0.413000													4	137					0	0	0.014758	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36250750	36250750	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:36250750G>C	ENST00000315571.5	+	6	862	c.841G>C	c.(841-843)Gac>Cac	p.D281H	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.D232H|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.D271H	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	281						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTACTCTTCTGACACGGAATC	0.627000													32	1322					0	0	0.076483	0	0
FOXK1	221937	broad.mit.edu	37	7	4722413	4722413	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:4722413C>T	ENST00000328914.4	+	1	474	c.474C>T	c.(472-474)ttC>ttT	p.F158F	FOXK1_ENST00000446823.1_Intron	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	158	FHA.				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCCGCACTTCTACCTGCGCT	0.692000													3	12					0	0	0.115264	0	0
LMNB2	84823	broad.mit.edu	37	19	2444431	2444431	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:2444431C>G	ENST00000325327.3	-	2	434	c.372G>C	c.(370-372)ctG>ctC	p.L124L	LMNB2_ENST00000582871.1_Silent_p.L104L			Q03252	LMNB2_HUMAN	lamin B2	104	Coil 1B.|Rod.					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)		ACTCTGCCCTCAGCTTCCCAA	0.652000													6	41					0	0	0.038147	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43986079	43986079	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:43986079C>T	ENST00000282406.4	+	27	4092	c.3982C>T	c.(3982-3984)Cgg>Tgg	p.R1328W		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1328	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATGGCCCTCCGGGGACACAG	0.423000													3	29					0	0	0.115264	0	0
YAE1D1	57002	broad.mit.edu	37	7	39606114	39606114	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:39606114G>C	ENST00000432096.2	+	1	110	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	YAE1D1_ENST00000448268.1_Missense_Mutation_p.E33Q|YAE1D1_ENST00000223273.2_Missense_Mutation_p.E33Q			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	33																	GGCGCAGCGGGAATGGCAGAG	0.587000													5	36					0	0	0.021553	0	0
MYL6B	140465	broad.mit.edu	37	12	56547847	56547847	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56547847G>A	ENST00000553066.1	+	2	567	c.145G>A	c.(145-147)Gag>Aag	p.E49K	MYL6B_ENST00000207437.5_Missense_Mutation_p.E49K|MYL6B_ENST00000552568.1_Missense_Mutation_p.E49K|MYL6B_ENST00000550152.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Missense_Mutation_p.E49K			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	49					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAAAACCCAGGAGCCTCCAGT	0.572000													3	28					0	0	0.150653	0	0
ZNF536	9745	broad.mit.edu	37	19	31039498	31039498	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:31039498C>G	ENST00000355537.3	+	4	3119	c.2972C>G	c.(2971-2973)tCg>tGg	p.S991W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGGGCTCCTCGGTAACTGTG	0.577000													10	68					0	0	0.069234	0	0
KIF14	9928	broad.mit.edu	37	1	200522745	200522745	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:200522745G>C	ENST00000367350.4	-	30	5156	c.4718C>G	c.(4717-4719)tCt>tGt	p.S1573C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1573	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTAGCTAGAGATTCTAGTTC	0.398000													9	48					0	0	0.047766	0	0
TMTC4	84899	broad.mit.edu	37	13	101320888	101320888	+	Missense_Mutation	SNP	C	C	T	rs77476624		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:101320888C>T	ENST00000342624.5	-	3	422	c.164G>A	c.(163-165)cGc>cAc	p.R55H	TMTC4_ENST00000376234.3_Missense_Mutation_p.R36H|TMTC4_ENST00000328767.5_Missense_Mutation_p.R36H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	36						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCATAGCTGCGTGCAAAACA	0.413000													3	43					0	0	0.115264	0	0
RGS14	10636	broad.mit.edu	37	5	176794747	176794747	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:176794747G>A	ENST00000408923.3	+	7	848	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	220					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGTCGCTGCCGCTGGGTGTGG	0.711000													6	34					0	0	0.029380	0	0
ABI1	10006	broad.mit.edu	37	10	27048143	27048143	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:27048143G>A	ENST00000355394.4	-	9	1152	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ABI1_ENST00000359188.4_Missense_Mutation_p.S281F|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376166.1_Missense_Mutation_p.S276F|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.S326F|ABI1_ENST00000376138.3_Missense_Mutation_p.S282F|ABI1_ENST00000376139.2_Missense_Mutation_p.S277F|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376140.3_Missense_Mutation_p.S282F|ABI1_ENST00000376134.3_Missense_Mutation_p.S283F|ABI1_ENST00000376142.2_Missense_Mutation_p.S309F|ABI1_ENST00000376160.1_Missense_Mutation_p.S276F|ABI1_ENST00000376170.4_Missense_Mutation_p.S281F			Q8IZP0	ABI1_HUMAN	abl-interactor 1	309	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCATACTGGGAACCAGGAGC	0.483000													14	56					0	0	0.160694	0	0
LDB1	8861	broad.mit.edu	37	10	103871248	103871248	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:103871248G>A	ENST00000425280.1	-	2	413	c.71C>T	c.(70-72)cCg>cTg	p.P24L	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	24					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTTGCCGTTCGGGGGCTCCTT	0.557000													7	34					0	0	0.047766	0	0
CIC	23152	broad.mit.edu	37	19	42797308	42797308	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:42797308G>C	ENST00000572681.2	+	16	6459	c.6391G>C	c.(6391-6393)Gag>Cag	p.E2131Q	CIC_ENST00000575354.2_Missense_Mutation_p.E1224Q|CIC_ENST00000160740.3_Missense_Mutation_p.E1222Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTCTGAGCTTGAGGGGCAGCC	0.716000			"""Mis, F, S"""		oligodendroglioma								3	15					0	0	0.014758	0	0
OGDH	4967	broad.mit.edu	37	7	44715767	44715767	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:44715767C>T	ENST00000443864.2	+	9	1318	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000444676.1_Intron|OGDH_ENST00000222673.5_Intron	NM_001003941.2	NP_001003941.1	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	917					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CAGAGAGAGGCGTGCAAGGCA	0.527000													9	47					0	0	0.058154	0	0
GPATCH1	55094	broad.mit.edu	37	19	33592477	33592477	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:33592477G>C	ENST00000170564.2	+	9	1391	c.1077G>C	c.(1075-1077)aaG>aaC	p.K359N		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	359						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TATCTTCTAAGAAAGTAAGAA	0.303000													9	48					0	0	0.047766	0	0
SPSB2	84727	broad.mit.edu	37	12	6980429	6980429	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:6980429C>T	ENST00000524270.1	-	3	905	c.719G>A	c.(718-720)gGg>gAg	p.G240E	SPSB2_ENST00000523102.1_Missense_Mutation_p.G240E	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	240	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCGGGTATCCCCCAGGTTGTG	0.627000													6	25					0	0	0.038147	0	0
MACC1	346389	broad.mit.edu	37	7	20198921	20198921	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:20198921G>C	ENST00000400331.5	-	5	1371	c.1063C>G	c.(1063-1065)Ctt>Gtt	p.L355V	MACC1_ENST00000589011.1_Missense_Mutation_p.L355V|MACC1_ENST00000332878.4_Missense_Mutation_p.L355V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	355					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGTGACGGAAGAGCTTTAGCT	0.398000													3	67					0	0	0.115264	0	0
NCBP1	4686	broad.mit.edu	37	9	100412873	100412873	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:100412873G>C	ENST00000375147.3	+	9	1242	c.986G>C	c.(985-987)aGg>aCg	p.R329T		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	329					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGGAAGGAAAGGAAGACTTGG	0.378000													20	149					0	0	0.049695	0	0
RC3H1	149041	broad.mit.edu	37	1	173951999	173951999	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:173951999C>G	ENST00000367696.2	-	5	985	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q	RC3H1_ENST00000367694.2_Missense_Mutation_p.E212Q|RC3H1_ENST00000258349.4_Missense_Mutation_p.E212Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	212					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						GAACCATCTTCTAAGGCCAGC	0.403000													10	131					0	0	0.069234	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821469	12821469	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:12821469G>C	ENST00000319264.3	+	2	1092	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q		NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	136																	GTGGATGATCGAAGAAAAAGC	0.517000													16	69					0	0	0.146539	0	0
KRT12	3859	broad.mit.edu	37	17	39019596	39019596	+	Splice_Site	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:39019596C>T	ENST00000251643.4	-	6	1119		c.e6-1			NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12						visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GGGATTTCTTCTGCACGTGGG	0.552000													3	12					0	0	0.150653	0	0
TM4SF18	116441	broad.mit.edu	37	3	149039271	149039271	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:149039271G>A	ENST00000296059.2	-	6	865	c.600C>T	c.(598-600)atC>atT	p.I200I	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Silent_p.I200I	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	200						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTATTCAAATGATTCCAGGCT	0.303000													13	109					0	0	0.105934	0	0
CELF3	11189	broad.mit.edu	37	1	151680372	151680372	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:151680372C>G	ENST00000290583.4	-	6	1319	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	CELF3_ENST00000392706.3_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.E176Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	176					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CGCTCCTTCTCAGTGTCAGCA	0.642000													4	27					0	0	0.014758	0	0
IL4I1	259307	broad.mit.edu	37	19	50394716	50394716	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:50394716G>C	ENST00000595948.1	-	8	1268	c.648C>G	c.(646-648)ctC>ctG	p.L216L	IL4I1_ENST00000391826.2_Silent_p.L194L|IL4I1_ENST00000341114.3_Silent_p.L216L	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	194						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCAGTGCCTTGAGGTCTTTGA	0.587000													17	116					0	0	0.049695	0	0
KIFC1	3833	broad.mit.edu	37	6	33371665	33371665	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:33371665G>C	ENST00000428849.2	+	6	965	c.515G>C	c.(514-516)aGa>aCa	p.R172T		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	172					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACCAGCTCAGAGATGCCCAG	0.557000													12	91					0	0	0.080935	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798799	113798799	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:113798799G>C	ENST00000281273.4	+	8	1050	c.793G>C	c.(793-795)Gaa>Caa	p.E265Q	QTRTD1_ENST00000485050.1_Missense_Mutation_p.E277Q|QTRTD1_ENST00000493014.1_Missense_Mutation_p.E159Q|QTRTD1_ENST00000479882.1_Missense_Mutation_p.E142Q	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	265					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CGAGTGTATTGAAAGAGGAGT	0.433000													21	155					0	0	0.076483	0	0
CCDC58	131076	broad.mit.edu	37	3	122090639	122090639	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:122090639G>C	ENST00000291458.5	-	2	66	c.60C>G	c.(58-60)ctC>ctG	p.L20L	CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Silent_p.L6L	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	20										large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		TCATCACCTTGAGTAATTCCT	0.318000													8	63					0	0	0.038147	0	0
RASL12	51285	broad.mit.edu	37	15	65350896	65350896	+	Silent	SNP	G	G	A	rs147666289		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:65350896G>A	ENST00000220062.4	-	4	570	c.294C>T	c.(292-294)taC>taT	p.Y98Y	RASL12_ENST00000434605.2_Silent_p.Y87Y|RASL12_ENST00000421977.3_Silent_p.Y79Y	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	98					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TGTCGACGCTGTACACCACCA	0.652000													10	43					0	0	0.069234	0	0
BSX	390259	broad.mit.edu	37	11	122848536	122848536	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:122848536C>T	ENST00000343035.2	-	3	571	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	175										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCTTTGGGTTCGTCTTGGCTT	0.592000													14	47					0	0	0.132662	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65194385	65194385	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:65194385C>A	ENST00000247226.7	+	2	344	c.36C>A	c.(34-36)agC>agA	p.S12R	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S12R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	12	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGGATGGCAGCCAGGAGCGGC	0.652000													4	16					0.014758	0.0151189	0.014758	1	0
BTN1A1	696	broad.mit.edu	37	6	26505360	26505360	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:26505360C>G	ENST00000244513.6	+	3	701	c.635C>G	c.(634-636)tCt>tGt	p.S212C		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	212	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAGACACTTCTGCGAAAAAT	0.448000													11	71					0	0	0.080935	0	0
ZNF681	148213	broad.mit.edu	37	19	23927132	23927132	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:23927132G>C	ENST00000402377.3	-	4	1361	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	ZNF681_ENST00000395385.3_Nonsense_Mutation_p.S338*	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S338L(1)|p.S407L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGGTGTGAGGACTTGTT	0.398000													8	71					0	0	0.047766	0	0
RAD50	10111	broad.mit.edu	37	5	131953875	131953875	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:131953875G>A	ENST00000378823.3	+	21	3679	c.2861G>A	c.(2860-2862)cGa>cAa	p.R954Q	RAD50_ENST00000265335.6_Missense_Mutation_p.R1093Q	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1093					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAGAACTTCGAGAACCACAA	0.323000								Homologous recombination					32	187					0	0	0.134883	0	0
TMEM107	84314	broad.mit.edu	37	17	8077524	8077524	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:8077524G>C	ENST00000316425.5	-	5	550	c.438C>G	c.(436-438)ttC>ttG	p.F146L	TMEM107_ENST00000431792.2_Missense_Mutation_p.F74L|TMEM107_ENST00000437139.2_Missense_Mutation_p.F140L|TMEM107_ENST00000449985.2_3'UTR|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000533070.1_Missense_Mutation_p.F139L	NM_032354.3	NP_115730.2	Q6UX40	TM107_HUMAN	transmembrane protein 107	140						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						AAGGTAATCAGAAGGGTTTCT	0.502000													10	66					0	0	0.080935	0	0
PFAS	5198	broad.mit.edu	37	17	8157504	8157504	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:8157504G>A	ENST00000314666.6	+	3	296	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	55					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCCAGTGCTGAGGAGACAAA	0.587000													7	47					0	0	0.029380	0	0
CNOT11	55571	broad.mit.edu	37	2	101874329	101874329	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:101874329C>G	ENST00000289382.3	+	2	754	c.591C>G	c.(589-591)ttC>ttG	p.F197L		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		GGGAACTCTTCAAAAAGACGC	0.473000													11	92					0	0	0.093190	0	0
KIAA0907	22889	broad.mit.edu	37	1	155893435	155893435	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:155893435C>T	ENST00000368320.3	-	8	962	c.937G>A	c.(937-939)Gag>Aag	p.E313K	KIAA0907_ENST00000368319.3_Missense_Mutation_p.E313K|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.E313K			Q7Z7F0	K0907_HUMAN	KIAA0907	313										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AAAAGATTCTCACAAAGCTTC	0.388000													13	56					0	0	0.160694	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25351204	25351204	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:25351204G>C	ENST00000302874.4	+	7	874	c.850G>C	c.(850-852)Gaa>Caa	p.E284Q	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	284							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TGGCTTGGTTGAACCTCTGGC	0.378000													28	152					0	0	0.153744	0	0
RHOH	399	broad.mit.edu	37	4	40245288	40245288	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:40245288G>A	ENST00000381799.4	+	3	1006	c.282G>A	c.(280-282)ttG>ttA	p.L94L	RHOH_ENST00000505618.1_Silent_p.L94L	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	94					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TCCTGAACTTGAAGAACAAGT	0.572000													14	32					0	0	0.105934	0	0
SPAST	6683	broad.mit.edu	37	2	32289083	32289083	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:32289083C>T	ENST00000315285.3	+	1	308	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SPAST_ENST00000345662.1_Silent_p.F61F	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	61	Required for interaction with ATL1.|Required for interaction with RTN1.|Required for interaction with SSNA1 and microtubules.|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	p.F61L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGTAGGCTTCGCGCTGCTGC	0.697000													4	46					0	0	0.021553	0	0
OLFM4	10562	broad.mit.edu	37	13	53603067	53603067	+	Silent	SNP	C	C	G	rs140749392		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:53603067C>G	ENST00000219022.2	+	1	174	c.96C>G	c.(94-96)ccC>ccG	p.P32P		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	32	Ser-rich.				cell adhesion	extracellular space		p.P32P(2)		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)		TTCCCAGCCCCGGCTTCAGCT	0.607000													9	165					0	0	0.069234	0	0
DDR2	4921	broad.mit.edu	37	1	162741855	162741855	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:162741855G>C	ENST00000367922.2	+	14	1984	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	DDR2_ENST00000367921.3_Missense_Mutation_p.E516Q	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	516					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CAGTGGCCCTGAGGGGGTGCC	0.587000													3	33					0	0	0.115264	0	0
SAMD9	54809	broad.mit.edu	37	7	92731898	92731898	+	Silent	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:92731898T>C	ENST00000379958.2	-	3	3782	c.3513A>G	c.(3511-3513)gaA>gaG	p.E1171E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1171						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTCTCTATCTTCACTTTGCT	0.393000													25	163					0	0	0.099896	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577807	67577807	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:67577807C>G	ENST00000310421.4	-	1	1645	c.1387G>C	c.(1387-1389)Gat>Cat	p.D463H		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	463					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGGCGATTATCCATTACTGCT	0.453000													30	233					0	0	0.173368	0	0
CPEB1	64506	broad.mit.edu	37	15	83226644	83226644	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:83226644C>G	ENST00000563800.1	-	4	2278	c.553G>C	c.(553-555)Gac>Cac	p.D185H	CPEB1_ENST00000568757.1_Missense_Mutation_p.D83H|CPEB1_ENST00000562019.1_Missense_Mutation_p.D158H|CPEB1_ENST00000450751.2_Missense_Mutation_p.D83H|CPEB1_ENST00000423133.2_Missense_Mutation_p.D83H|CPEB1_ENST00000261723.6_Missense_Mutation_p.D161H|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.D83H|CPEB1_ENST00000568128.1_Missense_Mutation_p.D158H|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000564522.1_Missense_Mutation_p.D83H			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	158	Ser-rich.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAACTTGTCCACCAAGTCA	0.567000													9	87					0	0	0.058154	0	0
TTN	7273	broad.mit.edu	37	2	179417226	179417226	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:179417226G>C	ENST00000589042.1	-	335	90625	c.90401C>G	c.(90400-90402)tCa>tGa	p.S30134*	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S21069*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S21194*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S21261*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S27566*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S28493*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28493	Fibronectin type-III 119.						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)			AGGGATATCTGACAGGTCAAC	0.423000													6	35					0	0	0.038147	0	0
PDHX	8050	broad.mit.edu	37	11	34982054	34982054	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:34982054A>G	ENST00000448838.3	+	5	827	c.585A>G	c.(583-585)atA>atG	p.I195M	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.I210M	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	210	Interaction with DLD.				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTCGGGGGATATTCACTAAAG	0.378000													8	125					0	0	0.038147	0	0
PAX3	5077	broad.mit.edu	37	2	223066840	223066840	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:223066840G>C	ENST00000350526.4	-	8	1379	c.1243C>G	c.(1243-1245)Ctc>Gtc	p.L415V	PAX3_ENST00000336840.6_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000409551.3_Missense_Mutation_p.L414V|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Missense_Mutation_p.L415V|PAX3_ENST00000392069.2_Missense_Mutation_p.L415V	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	415					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCCGGTGAGAGGGGAGAGC	0.547000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	21					0	0	0.014758	0	0
OR2M7	391196	broad.mit.edu	37	1	248486993	248486993	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:248486993C>T	ENST00000317965.2	-	1	906	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TTCCTTGTTGCGGAGGCTATA	0.428000													16	43					0	0	0.160694	0	0
ARID3C	138715	broad.mit.edu	37	9	34621456	34621456	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:34621456C>T	ENST00000378909.2	-	7	1330	c.1238G>A	c.(1237-1239)tGa>tAa	p.*413*		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TAGGACCTCTCAGGGCAAGAT	0.637000													3	26					0	0	0.115264	0	0
EPN1	29924	broad.mit.edu	37	19	56204355	56204355	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:56204355G>C	ENST00000411543.2	+	9	2021	c.1474G>C	c.(1474-1476)Gac>Cac	p.D492H	EPN1_ENST00000085079.7_Missense_Mutation_p.D380H|EPN1_ENST00000270460.6_Missense_Mutation_p.D406H	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	406	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGAGTTCTCTGACTTTGACCG	0.701000													19	121					0	0	0.062417	0	0
CCDC102A	92922	broad.mit.edu	37	16	57555060	57555060	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:57555060C>T	ENST00000258214.2	-	4	1087	c.841G>A	c.(841-843)Gag>Aag	p.E281K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	281										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCTAGCTTCTCAATGTTCCTG	0.572000													8	73					0	0	0.047766	0	0
OTUB2	78990	broad.mit.edu	37	14	94511037	94511037	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:94511037C>G	ENST00000203664.5	+	5	618	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	137	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GTTCCTGCGCCTGCTCACGTC	0.552000													3	35					0	0	0.115264	0	0
MADD	8567	broad.mit.edu	37	11	47295502	47295502	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:47295502G>C	ENST00000342922.4	+	2	394	c.37G>C	c.(37-39)Gac>Cac	p.D13H	MADD_ENST00000407859.3_Missense_Mutation_p.D13H|MADD_ENST00000402192.2_Missense_Mutation_p.D13H|MADD_ENST00000349238.3_Missense_Mutation_p.D13H|MADD_ENST00000395344.3_Missense_Mutation_p.D13H|MADD_ENST00000402799.1_Missense_Mutation_p.D13H|MADD_ENST00000395336.3_Missense_Mutation_p.D13H|MADD_ENST00000406482.1_Missense_Mutation_p.D13H|MADD_ENST00000311027.5_Missense_Mutation_p.D13H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	13					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCGGTTACTTGACTATCTAGT	0.443000													8	37					0	0	0.047766	0	0
LRP6	4040	broad.mit.edu	37	12	12274061	12274061	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:12274061C>G	ENST00000261349.4	-	23	4917	c.4841G>C	c.(4840-4842)tGa>tCa	p.*1614S	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Nonstop_Mutation_p.*1569S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	0					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCCCCTCCTCAGGAGGAGTC	0.517000													5	24					0	0	0.014758	0	0
IFIH1	64135	broad.mit.edu	37	2	163163360	163163360	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:163163360C>G	ENST00000263642.2	-	3	1023	c.628G>C	c.(628-630)Gag>Cag	p.E210Q		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	210					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GATAAATTCTCAATCTCTGTG	0.368000													3	38					0	0	0.115264	0	0
PRSS1	5644	broad.mit.edu	37	7	142460822	142460822	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:142460822T>G	ENST00000486171.1	+	6	754	c.737T>G	c.(736-738)gTc>gGc	p.V246G	PRSS1_ENST00000311737.7_Missense_Mutation_p.V232G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	232					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TACACCAAGGTCTACAACTAT	0.488000													16	66					0	0	0.175082	0	0
ZNF232	7775	broad.mit.edu	37	17	5012863	5012863	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:5012863C>T	ENST00000250076.3	-	3	978	c.324G>A	c.(322-324)ctG>ctA	p.L108L	ZNF232_ENST00000575898.1_Silent_p.L108L|ZNF232_ENST00000416429.2_Silent_p.L81L|ZNF232_ENST00000575538.1_Intron	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	81	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCTCTGGCCTCAGCCACTCAC	0.582000													16	53					0	0	0.160694	0	0
CSRP1	1465	broad.mit.edu	37	1	201465408	201465408	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:201465408C>G	ENST00000367306.1	-	3	387	c.24G>C	c.(22-24)aaG>aaC	p.K8N	CSRP1_ENST00000531916.1_Missense_Mutation_p.K8N|CSRP1_ENST00000532460.1_Missense_Mutation_p.K8N|CSRP1_ENST00000526723.1_Missense_Mutation_p.K8N|CSRP1_ENST00000458271.2_5'UTR|CSRP1_ENST00000533432.1_Missense_Mutation_p.K8N|CSRP1_ENST00000340006.2_Missense_Mutation_p.K8N			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	8						nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						CCCCACATTTCTTGCCTCCTC	0.483000													20	116					0	0	0.091800	0	0
ZC3H8	84524	broad.mit.edu	37	2	112994207	112994207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:112994207G>A	ENST00000409573.1	-	4	565	c.436C>T	c.(436-438)Cga>Tga	p.R146*	ZC3H8_ENST00000272570.5_Nonsense_Mutation_p.R146*			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	146					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						GGCCATTTTCGCTTCATTTTC	0.353000													11	66					0	0	0.069234	0	0
KCNH3	23416	broad.mit.edu	37	12	49943272	49943272	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49943272G>A	ENST00000257981.6	+	9	1777	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	506					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ATCATCCAGCGCATGTACGCC	0.667000													10	49					0	0	0.069234	0	0
PLCB2	5330	broad.mit.edu	37	15	40582261	40582261	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:40582261A>G	ENST00000260402.3	-	30	3481	c.3232T>C	c.(3232-3234)Tcc>Ccc	p.S1078P	PLCB2_ENST00000557821.1_Missense_Mutation_p.S1074P|PLCB2_ENST00000456256.2_Missense_Mutation_p.S1063P	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1078					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGATGTGGGAGTTGTTAATC	0.468000													4	101					0	0	0.150653	0	0
TMEM203	94107	broad.mit.edu	37	9	140099678	140099678	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:140099678G>A	ENST00000343666.5	-	1	412	c.189C>T	c.(187-189)ttC>ttT	p.F63F	TMEM203_ENST00000537254.1_Silent_p.F63F	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	63						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGATGGTGGTGAAGTAGGTGC	0.617000													4	21					0	0	0.014758	0	0
CCM2	83605	broad.mit.edu	37	7	45113081	45113081	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:45113081G>A	ENST00000475551.1	+	8	1568	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000258781.6_Missense_Mutation_p.V276M|CCM2_ENST00000544363.1_Missense_Mutation_p.V185M|CCM2_ENST00000541586.1_Missense_Mutation_p.V218M|CCM2_ENST00000474617.1_Missense_Mutation_p.V179M|CCM2_ENST00000381112.3_Missense_Mutation_p.V297M			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	276					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGTGGATGTGGGTGGTGC	0.587000													5	30					0	0	0.014758	0	0
C19orf44	84167	broad.mit.edu	37	19	16614078	16614078	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:16614078C>G	ENST00000221671.3	+	3	1118	c.962C>G	c.(961-963)tCa>tGa	p.S321*	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Nonsense_Mutation_p.S321*	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	321										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GGCGCCTTTTCAAACTCAGTG	0.552000													12	111					0	0	0.093190	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261991	21261991	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261991G>T	ENST00000311620.5	+	2	1177	c.1104G>T	c.(1102-1104)caG>caT	p.Q368H		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	368	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGAGAGAGCAGATTGATCTAG	0.502000													11	78					0.000673444	0.000699417	0.069234	1	0
MYL6B	140465	broad.mit.edu	37	12	56548975	56548975	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56548975G>A	ENST00000553066.1	+	4	761	c.339G>A	c.(337-339)aaG>aaA	p.K113K	MYL6B_ENST00000207437.5_Silent_p.K113K|MYL6B_ENST00000552568.1_Silent_p.K113K|MYL6B_ENST00000550152.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Silent_p.K113K			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	113					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGAACCCCAAGAGTGATGGTG	0.522000													23	116					0	0	0.062417	0	0
CHD3	1107	broad.mit.edu	37	17	7810759	7810759	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:7810759G>C	ENST00000380358.4	+	32	5055	c.5054G>C	c.(5053-5055)gGa>gCa	p.G1685A	CHD3_ENST00000330494.7_Missense_Mutation_p.G1626A|CHD3_ENST00000358181.4_Missense_Mutation_p.G1626A	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1626	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGGGTGCCTGGAGAGATGGAG	0.592000													3	27					0	0	0.115264	0	0
MYO1B	4430	broad.mit.edu	37	2	192225422	192225422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:192225422C>T	ENST00000392318.3	+	8	875	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	MYO1B_ENST00000339514.4_Nonsense_Mutation_p.Q210*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.Q210*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.Q210*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	210	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGTGTTCTATCAGCTGCTCTC	0.408000													20	140					0	0	0.069288	0	0
CCDC36	339834	broad.mit.edu	37	3	49293924	49293924	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:49293924G>C	ENST00000438782.1	+	8	1230	c.994G>C	c.(994-996)Gaa>Caa	p.E332Q	CCDC36_ENST00000296449.5_Missense_Mutation_p.E332Q|CCDC36_ENST00000452691.2_Missense_Mutation_p.E332Q			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	332										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGATCTCCAAGAAGAGGCTGC	0.512000													19	82					0	0	0.175082	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261721	21261721	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261721G>T	ENST00000311620.5	+	2	907	c.834G>T	c.(832-834)agG>agT	p.R278S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	278										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TTTTTAGAAGGAACAGGATAT	0.453000													8	81					1.26484e-09	1.37817e-09	0.038147	1	0
RGS19	10287	broad.mit.edu	37	20	62705602	62705602	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:62705602G>C	ENST00000395042.1	-	5	623	c.357C>G	c.(355-357)ttC>ttG	p.F119L	RGS19_ENST00000332298.5_Missense_Mutation_p.F119L	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	119	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AGGCCAACCAGAAGAGCATGT	0.607000													4	29					0	0	0.014758	0	0
ACE2	59272	broad.mit.edu	37	X	15584408	15584408	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:15584408G>C	ENST00000427411.1	-	17	2298	c.2082C>G	c.(2080-2082)atC>atG	p.I694M	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Missense_Mutation_p.I694M	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	694					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TTCTAGGAATGATATCAGACA	0.383000													34	171					0	0	0.069456	0	0
KCNK16	83795	broad.mit.edu	37	6	39284586	39284586	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:39284586G>T	ENST00000425054.2	-	4	632	c.633C>A	c.(631-633)agC>agA	p.S211R	KCNK16_ENST00000437525.2_Missense_Mutation_p.S211R|KCNK16_ENST00000373229.5_Missense_Mutation_p.S211R|KCNK16_ENST00000507712.1_Missense_Mutation_p.S146R|KCNK16_ENST00000373227.4_Missense_Mutation_p.S211R	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	211						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGCCAATGGTGCTGAGAGTGA	0.532000													36	247					4.46736e-08	4.85359e-08	0.080422	1	0
SMG5	23381	broad.mit.edu	37	1	156238112	156238112	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:156238112C>T	ENST00000361813.5	-	8	952	c.808G>A	c.(808-810)Gag>Aag	p.E270K	SMG5_ENST00000368267.4_Missense_Mutation_p.E270K	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	270					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCGAGTCTCACACTTCTTC	0.532000													38	267					0	0	0.064281	0	0
OIP5	11339	broad.mit.edu	37	15	41624610	41624610	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:41624610G>C	ENST00000220514.3	-	1	209	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	50					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTGCGGGGCCGAGCGGCGAGG	0.662000													13	58					0	0	0.119110	0	0
GLDC	2731	broad.mit.edu	37	9	6605142	6605142	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:6605142G>A	ENST00000321612.6	-	6	1000	c.850C>T	c.(850-852)Cat>Tat	p.H284Y		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	284					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCACTCTGATGAGCTCTCTCC	0.502000													12	56					0	0	0.093190	0	0
PDCD2L	84306	broad.mit.edu	37	19	34912556	34912556	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:34912556C>G	ENST00000246535.3	+	6	977	c.930C>G	c.(928-930)ctC>ctG	p.L310L	PDCD2L_ENST00000587065.2_Silent_p.L8L	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	310						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCAGCATGCTCAAGAGTGCTA	0.408000													13	102					0	0	0.132662	0	0
LAMC2	3918	broad.mit.edu	37	1	183209189	183209189	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:183209189G>A	ENST00000264144.4	+	21	3149	c.3084G>A	c.(3082-3084)ctG>ctA	p.L1028L	LAMC2_ENST00000493293.1_Silent_p.L1028L|LAMC2_ENST00000461729.1_3'UTR	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1028	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTGGGAGTCTGAACTTGGAAG	0.493000													17	122					0	0	0.055883	0	0
IFT140	9742	broad.mit.edu	37	16	1621494	1621494	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:1621494C>T	ENST00000426508.2	-	14	1929	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	522										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGCAGGGATTCCCCTCAGTCT	0.413000													3	43					0	0	0.029380	0	0
DHX29	54505	broad.mit.edu	37	5	54591224	54591224	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:54591224C>G	ENST00000251636.5	-	5	782	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	212							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTAGGGTCCTCTTCATATGTT	0.333000													11	85					0	0	0.080935	0	0
TNS4	84951	broad.mit.edu	37	17	38633892	38633892	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:38633892G>A	ENST00000254051.6	-	13	2254	c.2096C>T	c.(2095-2097)tCg>tTg	p.S699L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	699	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATGACCTGCGAGGCTGGCTG	0.587000													9	72					0	0	0.047766	0	0
MYOCD	93649	broad.mit.edu	37	17	12656083	12656083	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:12656083C>T	ENST00000425538.1	+	10	1678	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	MYOCD_ENST00000343344.4_Missense_Mutation_p.T493M|MYOCD_ENST00000395988.1_Missense_Mutation_p.T397M	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	493	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.T493M(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CACGTGTGCACGGAGGAAAGT	0.612000													8	19					0	0	0.047766	0	0
XRCC4	7518	broad.mit.edu	37	5	82400809	82400809	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:82400809G>C	ENST00000282268.3	+	2	246	c.71G>C	c.(70-72)tGg>tCg	p.W24S	XRCC4_ENST00000396027.4_Missense_Mutation_p.W24S|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Missense_Mutation_p.W24S|XRCC4_ENST00000338635.6_Missense_Mutation_p.W24S	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	24					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CAAGTATCTTGGGAGAAAACA	0.338000								Non-homologous end-joining					10	110					0	0	0.058154	0	0
NLRP13	126204	broad.mit.edu	37	19	56423845	56423845	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:56423845C>T	ENST00000588751.1	-	5	1362	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q	NLRP13_ENST00000342929.3_Silent_p.Q446Q			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	446	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGTGATTGACTGGAGATCGT	0.478000													13	108					0	0	0.132662	0	0
PGBD1	84547	broad.mit.edu	37	6	28269871	28269871	+	Missense_Mutation	SNP	C	C	T	rs147237521	byFrequency	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:28269871C>T	ENST00000405948.2	+	7	2660	c.2240C>T	c.(2239-2241)tCg>tTg	p.S747L	PGBD1_ENST00000259883.3_Missense_Mutation_p.S747L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	747					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						CAAATTATTTCGAAATACAGG	0.388000													8	52					0	0	0.047766	0	0
TBC1D8	11138	broad.mit.edu	37	2	101655014	101655014	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:101655014C>T	ENST00000409318.1	-	7	1314	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	TBC1D8_ENST00000376840.4_Missense_Mutation_p.R380Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	380					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CAGGCTGTCTCGGTCCCGGAG	0.587000													20	135					0	0	0.049695	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368322	74368322	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:74368322G>C	ENST00000290438.3	-	8	609	c.569C>G	c.(568-570)tCg>tGg	p.S190W		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	190										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TCTGCAGCTCGAGGACTGGAT	0.552000													13	156					0	0	0.132662	0	0
PSMD4	5710	broad.mit.edu	37	1	151234661	151234661	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:151234661G>A	ENST00000368884.3	+	2	131	c.51G>A	c.(49-51)cgG>cgA	p.R17R	PSMD4_ENST00000368881.4_Silent_p.R17R	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	17	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATATGCGGAATGGAGACT	0.493000													11	93					0	0	0.093190	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	24					0	0	0.058154	0	0
BCL7C	9274	broad.mit.edu	37	16	30904177	30904177	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:30904177G>A	ENST00000380317.4	-	3	621	c.264C>T	c.(262-264)atC>atT	p.I88I	MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000570025.1_RNA|MIR4519_ENST00000565573.1_RNA|BCL7C_ENST00000215115.4_Silent_p.I88I			Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	88					apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GATCCAGCAGGATGAGAGGGC	0.662000													18	105					0	0	0.049695	0	0
SEZ6	124925	broad.mit.edu	37	17	27284448	27284448	+	Silent	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:27284448C>A	ENST00000317338.12	-	12	2840	c.2412G>T	c.(2410-2412)gtG>gtT	p.V804V	SEZ6_ENST00000442608.3_Silent_p.V804V|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Silent_p.V804V			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	804	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGCCCATCAGCACAAAACCCT	0.582000													4	149					0.150653	0.151862	0.150653	1	0
SEC14L4	284904	broad.mit.edu	37	22	30891384	30891384	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:30891384C>T	ENST00000392772.2	-	5	395	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SEC14L4_ENST00000255858.7_Missense_Mutation_p.E94K|SEC14L4_ENST00000540456.1_Missense_Mutation_p.E79K|SEC14L4_ENST00000381982.3_Missense_Mutation_p.E94K			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	94						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGGCAGCCTTCGTAGTCGTAG	0.562000													7	42					0	0	0.038147	0	0
NXNL1	115861	broad.mit.edu	37	19	17571473	17571473	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:17571473C>T	ENST00000301944.2	-	1	290	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	69	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CTGAGCCGCCCGCAGTACATA	0.587000													15	59					0	0	0.146539	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611780	42611780	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:42611780G>C	ENST00000276410.2	-	5	917	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V	CHRNA6_ENST00000534622.1_Missense_Mutation_p.L173V	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	188						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATGATTAGAAGATCAATTTCA	0.363000													5	68					0	0	0.021553	0	0
TXNL4B	54957	broad.mit.edu	37	16	72124582	72124582	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:72124582C>G	ENST00000268483.3	-	2	388	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	TXNL4B_ENST00000426362.2_Missense_Mutation_p.E23Q|TXNL4B_ENST00000423037.1_Missense_Mutation_p.E23Q	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	23					mitosis|mRNA processing|RNA splicing	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						AACACCTTCTCAGCAGTACTT	0.398000													10	61					0	0	0.069234	0	0
C9orf163	158055	broad.mit.edu	37	9	139379468	139379468	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:139379468C>A	ENST00000354376.1	+	1	1522	c.568C>A	c.(568-570)Cta>Ata	p.L190I		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	190							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		GCTCGACCCTCTAGGGTCCTC	0.607000											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					3.59834e-05	3.82133e-05	0.021553	1	0
R3HDM1	23518	broad.mit.edu	37	2	136389447	136389447	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:136389447T>A	ENST00000264160.4	+	9	944	c.574T>A	c.(574-576)Ttc>Atc	p.F192I	R3HDM1_ENST00000329971.3_Missense_Mutation_p.F148I|R3HDM1_ENST00000410054.1_Missense_Mutation_p.F136I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.F192I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.F148I	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	192	R3H.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACGTAAAAAATTCCCCCCAAT	0.398000													21	98					0	0	0.055883	0	0
TNNT3	7140	broad.mit.edu	37	11	1956113	1956113	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:1956113C>G	ENST00000381558.1	+	13	900	c.621C>G	c.(619-621)ttC>ttG	p.F207L	TNNT3_ENST00000381579.3_Missense_Mutation_p.F207L|TNNT3_ENST00000446240.1_Missense_Mutation_p.F196L|TNNT3_ENST00000381549.3_Missense_Mutation_p.F207L|TNNT3_ENST00000397301.1_Missense_Mutation_p.F226L|TNNT3_ENST00000397304.2_Missense_Mutation_p.F196L|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381589.3_Missense_Mutation_p.F213L|TNNT3_ENST00000381548.3_Missense_Mutation_p.F217L|TNNT3_ENST00000278317.6_Missense_Mutation_p.F215L|TNNT3_ENST00000360603.3_Missense_Mutation_p.F209L|TNNT3_ENST00000381561.4_Missense_Mutation_p.F218L			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	226					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TTGACAAGTTCGAGTTTGGGG	0.597000													33	134					0	0	0.183431	0	0
ATL2	64225	broad.mit.edu	37	2	38537571	38537571	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:38537571C>T	ENST00000378954.4	-	8	824	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ATL2_ENST00000539122.1_Missense_Mutation_p.E104K|ATL2_ENST00000419554.2_Missense_Mutation_p.E275K|ATL2_ENST00000332337.4_Missense_Mutation_p.E257K|ATL2_ENST00000402054.1_Missense_Mutation_p.E104K|ATL2_ENST00000546051.1_Missense_Mutation_p.E104K|ATL2_ENST00000452935.2_Missense_Mutation_p.E257K|ATL2_ENST00000406122.1_Missense_Mutation_p.E104K	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	275					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TGAAGCTCTTCATGTTGATTT	0.378000													10	57					0	0	0.069234	0	0
FMO2	2327	broad.mit.edu	37	1	171154965	171154965	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:171154965G>A	ENST00000441535.1	+	2	230	c.113G>A	c.(112-114)gGa>gAa	p.G38E	FMO2_ENST00000529935.1_Intron|FMO2_ENST00000209929.7_Missense_Mutation_p.G38E|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	38					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGATATTGGAGGAGTGTGG	0.453000													14	134					0	0	0.146539	0	0
FLT1	2321	broad.mit.edu	37	13	28913326	28913326	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:28913326C>A	ENST00000282397.4	-	17	2718	c.2467G>T	c.(2467-2469)Gcc>Tcc	p.A823S	FLT1_ENST00000540678.1_Missense_Mutation_p.A41S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	823					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTCTCCCGGGCAAACTCCCAC	0.418000													4	54					0.000602214	0.000627168	0.014758	1	0
ZNF429	353088	broad.mit.edu	37	19	21720644	21720644	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:21720644G>C	ENST00000358491.4	+	4	1997	c.1789G>C	c.(1789-1791)Gaa>Caa	p.E597Q	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAATGTGAAGAATGTGGCAA	0.358000													6	58					0	0	0.038147	0	0
RGN	9104	broad.mit.edu	37	X	46949306	46949306	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:46949306C>A	ENST00000397180.1	+	5	1447	c.478C>A	c.(478-480)Cta>Ata	p.L160I	RGN_ENST00000457380.1_Intron|RGN_ENST00000352078.4_Missense_Mutation_p.L160I|RGN_ENST00000336169.3_Missense_Mutation_p.L160I	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	160					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GGATTGGTCGCTAGACCACAA	0.468000													4	106					0.150653	0.151862	0.150653	1	0
POLD1	5424	broad.mit.edu	37	19	50902122	50902122	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:50902122G>A	ENST00000440232.2	+	2	67	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	POLD1_ENST00000599857.1_Missense_Mutation_p.R5Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R5Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	5			R -> W (in dbSNP:rs9282830).		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)		GATGGCAAGCGGCGGCCAGGC	0.647000								DNA polymerases (catalytic subunits)					9	16					0	0	0.058154	0	0
KIF4B	285643	broad.mit.edu	37	5	154393495	154393495	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:154393495G>A	ENST00000435029.4	+	1	236	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	26	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAGATTAGCGAGGGCTGCCA	0.522000													22	44					0	0	0.083992	0	0
DNAJB1	3337	broad.mit.edu	37	19	14627500	14627500	+	Silent	SNP	T	T	C	rs143985567	byFrequency	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:14627500T>C	ENST00000254322.2	-	2	640	c.570A>G	c.(568-570)ctA>ctG	p.L190L	DNAJB1_ENST00000396969.4_Silent_p.L90L	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	190					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	p.L190L(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CGTCGGGGTTTAGCCGCTTGT	0.483000													4	302					0	0	0.150653	0	0
NUP214	8021	broad.mit.edu	37	9	134014764	134014764	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:134014764G>T	ENST00000359428.5	+	10	1246	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y	NUP214_ENST00000451030.1_Missense_Mutation_p.D368Y|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.D368Y|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	368					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTTGTCGTAGACTATACAAA	0.418000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								10	41					9.31168e-06	9.91668e-06	0.105934	1	0
PIDD	55367	broad.mit.edu	37	11	799973	799973	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:799973G>C	ENST00000347755.5	-	15	2457	c.2316C>G	c.(2314-2316)ctC>ctG	p.L772L	PIDD_ENST00000411829.2_Silent_p.L755L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	772					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GTGCCAAGGAGAGGCCAGCCC	0.632000													9	42					0	0	0.069234	0	0
ITFG3	83986	broad.mit.edu	37	16	313748	313748	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:313748G>C	ENST00000399932.3	+	10	1613	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q	ITFG3_ENST00000442458.2_Missense_Mutation_p.E388Q|ITFG3_ENST00000301679.2_Missense_Mutation_p.E388Q|ITFG3_ENST00000450082.2_Missense_Mutation_p.E388Q|ITFG3_ENST00000301678.3_Missense_Mutation_p.E388Q|ITFG3_ENST00000600536.1_Missense_Mutation_p.E388Q			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	388						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGTAGCCGTTGAAAACGGAAC	0.537000													12	58					0	0	0.080935	0	0
C9orf66	157983	broad.mit.edu	37	9	214662	214662	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:214662G>A	ENST00000382387.2	-	1	1231	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	245	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCTTCGGCCGGAGGTCGGCGG	0.751000													3	4					0	0	0.115264	0	0
LTN1	26046	broad.mit.edu	37	21	30318479	30318479	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr21:30318479G>A	ENST00000361371.4	-	20	3768	c.3618C>T	c.(3616-3618)ttC>ttT	p.F1206F	LTN1_ENST00000389194.2_Silent_p.F1252F	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1206							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCTACCAACTGAAAAGAAAAA	0.308000													8	106					0	0	0.038147	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008988	88008988	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:88008988G>C	ENST00000276127.4	+	3	832	c.573G>C	c.(571-573)gaG>gaC	p.E191D	CPXCR1_ENST00000373111.1_Missense_Mutation_p.E191D	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	191						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCATCACGAGAGAGCCATAA	0.423000													5	37					0	0	0.021553	0	0
ZNF90	7643	broad.mit.edu	37	19	20229332	20229332	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:20229332G>A	ENST00000418063.2	+	4	1081	c.969G>A	c.(967-969)aaG>aaA	p.K323K	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	323						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAGCCTTCAAGCTCTCCTCAA	0.418000													5	36					0	0	0.021553	0	0
LILRB5	10990	broad.mit.edu	37	19	54758764	54758764	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:54758764G>A	ENST00000450632.1	-	6	1139	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	LILRB5_ENST00000316219.5_Silent_p.P363P|LILRB5_ENST00000449561.2_Silent_p.P363P|LILRB5_ENST00000345866.6_Silent_p.P263P			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	363	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACACAGCGGGGGATGGGCTG	0.547000													5	53					0	0	0.014758	0	0
FAM91A1	157769	broad.mit.edu	37	8	124801858	124801858	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:124801858G>C	ENST00000334705.7	+	15	1530	c.1284G>C	c.(1282-1284)caG>caC	p.Q428H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q428H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	428										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTTAGGTTCAGAGCACTGGTG	0.333000													11	69					0	0	0.080935	0	0
IFT172	26160	broad.mit.edu	37	2	27695135	27695135	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:27695135G>A	ENST00000260570.3	-	15	1609	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	IFT172_ENST00000359466.6_Silent_p.F502F|IFT172_ENST00000416524.2_Silent_p.F481F	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	502					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCCGGTCCCTGAAGAGGAGCT	0.547000													14	148					0	0	0.160694	0	0
AKAP9	10142	broad.mit.edu	37	7	91726162	91726162	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:91726162G>C	ENST00000359028.2	+	41	10126	c.9901G>C	c.(9901-9903)Gag>Cag	p.E3301Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E3297Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E3247Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3301			E -> Q (in a breast cancer sample; somatic mutation).		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.E3301Q(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGAAACTTAGAGCTTCAGGT	0.438000			T	BRAF	papillary thyroid								13	72					0	0	0.105934	0	0
PYGO1	26108	broad.mit.edu	37	15	55838571	55838571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:55838571G>A	ENST00000302000.6	-	3	1004	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	PYGO1_ENST00000563719.1_Nonsense_Mutation_p.Q304*	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	304	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGCTTATTCTGCGTCCCATTT	0.433000													49	323					0	0	0.139131	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73074384	73074384	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:73074384G>C	ENST00000263674.3	+	15	5480	c.5130G>C	c.(5128-5130)ggG>ggC	p.G1710G		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1710					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAATGGATGGGAGAGCCCTTC	0.667000													3	14					0	0	0.115264	0	0
PRKCH	5583	broad.mit.edu	37	14	61952289	61952289	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:61952289C>T	ENST00000332981.5	+	10	1733	c.1348C>T	c.(1348-1350)Cgt>Tgt	p.R450C	PRKCH_ENST00000555082.1_Missense_Mutation_p.R289C	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	450	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GAAGTCTCGTCGTTTTGATGA	0.443000													37	273					0	0	0.080422	0	0
COL5A3	50509	broad.mit.edu	37	19	10080263	10080263	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:10080263G>A	ENST00000264828.3	-	56	4171	c.4086C>T	c.(4084-4086)atC>atT	p.I1362I		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1362	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGGGCCAGGGATCCCTCGAA	0.672000													3	23					0	0	0.150653	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194206	160194206	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:160194206G>A	ENST00000392783.2	-	32	6027	c.5532C>T	c.(5530-5532)tgC>tgT	p.C1844C	BAZ2B_ENST00000392782.1_Silent_p.C1808C|BAZ2B_ENST00000355831.2_Silent_p.C1810C|BAZ2B_ENST00000343439.5_Silent_p.C1744C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATGCTCCTTGCACAATTTAG	0.428000													14	80					0	0	0.105934	0	0
ATG9B	285973	broad.mit.edu	37	7	150713883	150713883	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:150713883G>A	ENST00000605938.1	-	10	2390	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L	ATG9B_ENST00000444312.1_Silent_p.F257F|ATG9B_ENST00000377974.2_Silent_p.F771F|ATG9B_ENST00000494791.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	39					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGGTGCACGAAGAGGTTGG	0.612000													6	21					0	0	0.038147	0	0
DDX21	9188	broad.mit.edu	37	10	70737337	70737337	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:70737337G>A	ENST00000354185.4	+	12	1893	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	599						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ACAATCAGCTGAGAAGCTGAT	0.507000													16	117					0	0	0.175082	0	0
SRMS	6725	broad.mit.edu	37	20	62172623	62172623	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:62172623G>C	ENST00000217188.1	-	7	1246	c.1206C>G	c.(1204-1206)gtC>gtG	p.V402V		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	402	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCTGGGAGAAGACACGATAAT	0.617000													18	160					0	0	0.160694	0	0
MEX3B	84206	broad.mit.edu	37	15	82336881	82336881	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:82336881G>C	ENST00000329713.4	-	2	765	c.330C>G	c.(328-330)gtC>gtG	p.V110V	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	110	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						TCACAACAAAGACAGGCTCCT	0.577000													11	51					0	0	0.119110	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911437	100911437	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:100911437C>G	ENST00000328766.5	-	5	1591	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	ARMCX2_ENST00000356824.4_Missense_Mutation_p.D380H|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D380H	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	380						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGAATCTCATCAATTTCATAA	0.517000													17	79					0	0	0.160694	0	0
MIA3	375056	broad.mit.edu	37	1	222803432	222803432	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:222803432C>T	ENST00000344922.5	+	4	2895	c.2870C>T	c.(2869-2871)tCa>tTa	p.S957L	MIA3_ENST00000344441.6_Missense_Mutation_p.S957L|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	957					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAATGTCATCAAAACTGAAG	0.428000													8	58					0	0	0.038147	0	0
NOTCH2	4853	broad.mit.edu	37	1	120462868	120462868	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:120462868C>G	ENST00000256646.2	-	30	5682	c.5463G>C	c.(5461-5463)gtG>gtC	p.V1821V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1821					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACGGACATTCACATCTAACA	0.587000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	28					0	0	0.014758	0	0
MGMT	4255	broad.mit.edu	37	10	131557595	131557595	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:131557595G>A	ENST00000306010.7	+	4	529	c.497G>A	c.(496-498)aGa>aAa	p.R166K		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	166										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGAGCAATGAGAGGCAATCCT	0.577000								Direct reversal of damage					11	46					0	0	0.093190	0	0
AAAS	8086	broad.mit.edu	37	12	53709522	53709522	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:53709522G>C	ENST00000209873.4	-	3	461	c.296C>G	c.(295-297)tCa>tGa	p.S99*	AAAS_ENST00000550286.1_Missense_Mutation_p.Q6E|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Nonsense_Mutation_p.S99*	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	99					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTCTTCTTCTGAGTTTGCAAT	0.483000													9	16					0	0	0.080935	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810464	65810464	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:65810464G>A	ENST00000312006.4	-	3	1091	c.810C>T	c.(808-810)cgC>cgT	p.R270R	GAL3ST3_ENST00000527878.1_Silent_p.R270R	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	270					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGCTGGCGGCGCGCGCGTTGA	0.711000													4	17					0	0	0.150653	0	0
ZNF304	57343	broad.mit.edu	37	19	57866643	57866643	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:57866643C>T	ENST00000443917.2	+	3	504	c.165C>T	c.(163-165)ttC>ttT	p.F55F	ZNF304_ENST00000598744.1_Intron|ZNF304_ENST00000282286.5_Intron|ZNF304_ENST00000391705.3_Intron			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTACAGCTTTCATTTTCCCAG	0.502000													4	45					0	0	0.038147	0	0
GABRB2	2561	broad.mit.edu	37	5	160721121	160721121	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:160721121G>C	ENST00000274547.2	-	11	1723	c.1506C>G	c.(1504-1506)ttC>ttG	p.F502L	GABRB2_ENST00000353437.6_Missense_Mutation_p.F464L|GABRB2_ENST00000520240.1_Missense_Mutation_p.F464L|GABRB2_ENST00000517901.1_Missense_Mutation_p.F401L|GABRB2_ENST00000517547.1_Missense_Mutation_p.F304L|GABRB2_ENST00000393959.1_Missense_Mutation_p.F502L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	502					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGACGATGTTGAAGAAGGAAA	0.468000													7	55					0	0	0.029380	0	0
COL1A2	1278	broad.mit.edu	37	7	94057615	94057615	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:94057615G>T	ENST00000297268.6	+	50	4008	c.3537G>T	c.(3535-3537)tgG>tgT	p.W1179C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1179	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTTACTACTGGATTGACCCTA	0.383000										HNSCC(75;0.22)			9	106					0.0692343	0.070354	0.069234	1	0
CANT1	124583	broad.mit.edu	37	17	76989755	76989755	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:76989755G>C	ENST00000302345.2	-	4	1577	c.1083C>G	c.(1081-1083)ctC>ctG	p.L361L	CANT1_ENST00000392446.5_Silent_p.L361L|CANT1_ENST00000591773.1_Silent_p.L361L	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	361					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCTCGGATTTGAGGGCCACAA	0.607000			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	0.069234	0	0
TMTC2	160335	broad.mit.edu	37	12	83455572	83455572	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:83455572G>C	ENST00000549919.1	+	12	4080	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	TMTC2_ENST00000321196.3_Missense_Mutation_p.E765Q			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	765						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TGAAGCAGCTGAGAAGTATTA	0.353000													13	73					0	0	0.093190	0	0
TLN2	83660	broad.mit.edu	37	15	62993361	62993361	+	Silent	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:62993361T>C	ENST00000561311.1	+	16	1874	c.1644T>C	c.(1642-1644)tcT>tcC	p.S548S	TLN2_ENST00000306829.6_Silent_p.S548S			Q9Y4G6	TLN2_HUMAN	talin 2	548					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						AAATCCATTCTCAAGTTGATG	0.468000													7	78					0	0	0.038147	0	0
WDR62	284403	broad.mit.edu	37	19	36594781	36594781	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:36594781C>G	ENST00000401500.2	+	30	4086	c.4051C>G	c.(4051-4053)Cct>Gct	p.P1351A	WDR62_ENST00000270301.7_Missense_Mutation_p.P1346A	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1346					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCCCAGCTCCTGAGTCCCC	0.687000													8	60					0	0	0.047766	0	0
RABEPK	10244	broad.mit.edu	37	9	127982928	127982928	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:127982928G>C	ENST00000373538.3	+	5	785	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.E159Q|RABEPK_ENST00000259460.8_Missense_Mutation_p.E108Q|RABEPK_ENST00000373544.1_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	159					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGGGGGCGGAGAGAGAGGTGC	0.587000													8	60					0	0	0.038147	0	0
AGAP6	414189	broad.mit.edu	37	10	51749089	51749089	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:51749089C>G	ENST00000412531.3	+	2	317	c.245C>G	c.(244-246)gCc>gGc	p.A82G	AGAP6_ENST00000374056.4_Intron	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	82					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.A82G(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AACCTTTCTGCCAATCCAGAG	0.343000													3	75					0	0	0.014758	0	0
SLC6A4	6532	broad.mit.edu	37	17	28530257	28530257	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:28530257G>T	ENST00000401766.2	-	13	2263	c.1751C>A	c.(1750-1752)tCa>tAa	p.S584*	SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.S584*			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	584					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AATGAAAGATGAGGTTCCTAT	0.398000													9	100					3.07112e-06	3.29861e-06	0.080935	1	0
PDIA6	10130	broad.mit.edu	37	2	10931955	10931955	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:10931955C>G	ENST00000404371.2	-	8	1043	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	PDIA6_ENST00000540494.1_Missense_Mutation_p.E181Q|PDIA6_ENST00000272227.3_Missense_Mutation_p.E184Q|PDIA6_ENST00000381611.4_Missense_Mutation_p.E189Q|PDIA6_ENST00000404824.2_Missense_Mutation_p.E232Q			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	184	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GCATAGAACTCAACCATCCAA	0.398000													8	45					0	0	0.047766	0	0
DIP2B	57609	broad.mit.edu	37	12	51138607	51138607	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:51138607G>A	ENST00000301180.5	+	38	4750	c.4716G>A	c.(4714-4716)gtG>gtA	p.V1572V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1572						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCATCTACGTGGCTTATAACA	0.517000													20	62					0	0	0.083992	0	0
ZNF574	64763	broad.mit.edu	37	19	42584276	42584276	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:42584276G>C	ENST00000600245.1	+	2	2173	c.1518G>C	c.(1516-1518)aaG>aaC	p.K506N	ZNF574_ENST00000359044.4_Missense_Mutation_p.K506N|ZNF574_ENST00000222339.7_Missense_Mutation_p.K596N			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TGTTCAAGAAGAAGTCTCACG	0.582000													32	221					0	0	0.134883	0	0
WNK3	65267	broad.mit.edu	37	X	54321097	54321097	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:54321097G>C	ENST00000354646.2	-	8	2020	c.1582C>G	c.(1582-1584)Ctt>Gtt	p.L528V	WNK3_ENST00000375169.3_Missense_Mutation_p.L528V|WNK3_ENST00000375159.2_Missense_Mutation_p.L528V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	528					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCGGGAGCAAGGGGTAAAGTT	0.478000													9	38					0	0	0.069234	0	0
GPR124	25960	broad.mit.edu	37	8	37690552	37690552	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:37690552C>G	ENST00000315215.7	+	9	1485	c.1122C>G	c.(1120-1122)atC>atG	p.I374M	GPR124_ENST00000412232.2_Missense_Mutation_p.I374M			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	374					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCTGGCATCACAGCCTACC	0.667000													15	134					0	0	0.146539	0	0
ASB9	140462	broad.mit.edu	37	X	15266983	15266983	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:15266983C>A	ENST00000546332.1	-	7	1126	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	ASB9_ENST00000380488.4_Missense_Mutation_p.A215S|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.A215S|ASB9_ENST00000380483.3_Missense_Mutation_p.A205S	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	215					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCAGGCAGGCCAGCTCTTCA	0.567000													13	60					0.0202918	0.0207317	0.119110	1	0
PITPNB	23760	broad.mit.edu	37	22	28293876	28293876	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:28293876C>G	ENST00000335272.5	-	4	278	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L	PITPNB_ENST00000455418.3_Missense_Mutation_p.V70L|PITPNB_ENST00000320996.10_Missense_Mutation_p.V68L	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	68					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						AATGCAGGCACTTTGCTGGGA	0.458000													11	97					0	0	0.105934	0	0
PPFIA1	8500	broad.mit.edu	37	11	70218613	70218613	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:70218613G>C	ENST00000253925.7	+	23	3287	c.3072G>C	c.(3070-3072)ctG>ctC	p.L1024L	PPFIA1_ENST00000389547.3_Silent_p.L1024L|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1024	SAM 2.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTATGTGCCTGAGAAGGTTAA	0.328000													7	45					0	0	0.038147	0	0
PFDN2	5202	broad.mit.edu	37	1	161070553	161070553	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:161070553C>T	ENST00000368010.3	-	4	469	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	PFDN2_ENST00000468311.1_5'UTR	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	129					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTCTCATCTTCTCCCATGAGA	0.493000													11	94					0	0	0.093190	0	0
C10orf137	26098	broad.mit.edu	37	10	127429586	127429586	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:127429586C>G	ENST00000337623.3	+	16	2190	c.2085C>G	c.(2083-2085)ctC>ctG	p.L695L	C10orf137_ENST00000356792.4_Silent_p.L729L	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTGCTGCCTCTGCACCAATA	0.363000													29	103					0	0	0.183431	0	0
IFNLR1	163702	broad.mit.edu	37	1	24484051	24484051	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:24484051C>T	ENST00000327535.1	-	7	1144	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	IFNLR1_ENST00000374421.3_Missense_Mutation_p.E349K|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		GAGGAGCCTTCGCTTGGGACC	0.627000													7	22					0	0	0.029380	0	0
PSD4	23550	broad.mit.edu	37	2	113950670	113950670	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:113950670C>G	ENST00000245796.6	+	7	2079	c.1884C>G	c.(1882-1884)ttC>ttG	p.F628L	PSD4_ENST00000441564.2_Missense_Mutation_p.F600L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	628	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTCCTTCTTCCAGTTTGGAG	0.622000													4	68					0	0	0.150653	0	0
FAM111A	63901	broad.mit.edu	37	11	58920371	58920371	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:58920371G>A	ENST00000528737.1	+	5	4048	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	FAM111A_ENST00000531147.1_Silent_p.V410V|FAM111A_ENST00000361723.3_Silent_p.V410V|FAM111A_ENST00000420244.1_Silent_p.V410V|FAM111A_ENST00000533703.1_Silent_p.V410V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	410					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GTGTAAGGGTGACATTTGGTT	0.383000													14	80					0	0	0.105934	0	0
NUP153	9972	broad.mit.edu	37	6	17637953	17637953	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:17637953G>C	ENST00000262077.2	-	16	1894	c.1895C>G	c.(1894-1896)aCa>aGa	p.T632R	NUP153_ENST00000537253.1_Missense_Mutation_p.T663R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	632					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TACTGGGCTTGTTGCGGTGGG	0.438000													10	80					0	0	0.093190	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824272	55824272	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:55824272G>A	ENST00000326652.4	-	8	839	c.657C>T	c.(655-657)ctC>ctT	p.L219L	TMEM150B_ENST00000438693.1_Silent_p.L219L			A6NC51	T150B_HUMAN	transmembrane protein 150B	219						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GCGGGGGGCTGAGGCTGGGCC	0.672000													5	9					0	0	0.021553	0	0
WNT1	7471	broad.mit.edu	37	12	49373291	49373291	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49373291G>A	ENST00000293549.3	+	2	181	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	49					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CCTGCTTACAGACTCCAAGAG	0.557000													19	101					0	0	0.055883	0	0
MICU2	221154	broad.mit.edu	37	13	22113514	22113514	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:22113514G>A	ENST00000382374.4	-	4	458	c.393C>T	c.(391-393)gaC>gaT	p.D131D		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		TATCCTCGATGTCCTTTGAAT	0.383000													16	22					0	0	0.160694	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678154	32678154	+	Silent	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:32678154T>C	ENST00000409358.1	+	5	591	c.591T>C	c.(589-591)taT>taC	p.Y197Y		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	197	Doublecortin 2.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCCATTACTATGTGGCTGTCG	0.592000													7	46					0	0	0.029380	0	0
UTRN	7402	broad.mit.edu	37	6	144772564	144772564	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:144772564C>G	ENST00000367545.3	+	17	2131	c.2131C>G	c.(2131-2133)Cag>Gag	p.Q711E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	711	Interaction with SYNM.				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)		AACTGCCATTCAGACCACAGA	0.363000													7	32					0	0	0.029380	0	0
COL11A1	1301	broad.mit.edu	37	1	103364318	103364318	+	Silent	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:103364318A>G	ENST00000358392.2	-	56	4505	c.4188T>C	c.(4186-4188)ggT>ggC	p.G1396G	COL11A1_ENST00000370096.3_Silent_p.G1384G|COL11A1_ENST00000353414.4_Silent_p.G1345G|COL11A1_ENST00000512756.1_Silent_p.G1268G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1384	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACCTTCTGCACCTGCTTCCC	0.463000													6	53					0	0	0.021553	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414696	213414696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:213414696C>A	ENST00000366960.3	+	11	2027	c.1877C>A	c.(1876-1878)tCa>tAa	p.S626*	RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.S614*|RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.S329*|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.S414*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	626					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGTCTAAAATCAGAACCTTTG	0.388000													4	42					2.56e-06	2.76539e-06	0.150653	1	0
FAM208B	54906	broad.mit.edu	37	10	5789019	5789019	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:5789019C>A	ENST00000328090.5	+	15	4260	c.3635C>A	c.(3634-3636)tCt>tAt	p.S1212Y		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1212																	TCATCAGCCTCTACCACCTTG	0.473000													8	81					0.00621372	0.00640047	0.058154	1	0
DIXDC1	85458	broad.mit.edu	37	11	111889689	111889689	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:111889689G>A	ENST00000440460.2	+	21	2275	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.D449N	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	661	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GATTTTCCATGATGATGATGC	0.388000													10	77					0	0	0.069234	0	0
KMT2D	8085	broad.mit.edu	37	12	49436420	49436420	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49436420G>T	ENST00000301067.7	-	27	5790	c.5791C>A	c.(5791-5793)Cct>Act	p.P1931T		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTGCCCAAAGGGAGTCCACCT	0.552000													21	37					4.96729e-08	5.38123e-08	0.049695	1	0
APC	324	broad.mit.edu	37	5	112175987	112175987	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:112175987G>T	ENST00000457016.1	+	16	5076	c.4696G>T	c.(4696-4698)Gat>Tat	p.D1566Y	APC_ENST00000257430.4_Missense_Mutation_p.D1566Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D1566Y			P25054	APC_HUMAN	adenomatous polyposis coli	1566	Asp/Glu-rich (acidic).|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.D1566N(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCTATTAGATGATTCAGATGA	0.363000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			12	83					0.00010058	0.000105623	0.093190	1	0
NT5C3A	51251	broad.mit.edu	37	7	33066516	33066516	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:33066516G>A	ENST00000396152.2	-	3	350	c.48C>T	c.(46-48)ttC>ttT	p.F16F	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000405342.1_Silent_p.F16F|NT5C3A_ENST00000409787.1_Silent_p.F16F|NT5C3A_ENST00000409467.1_Silent_p.F4F|NT5C3A_ENST00000381626.2_Silent_p.F4F|NT5C3A_ENST00000242210.7_Silent_p.F55F	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		AACTTTTCTGGAATTCTGGCA	0.343000													9	60					0	0	0.047766	0	0
TAF6	6878	broad.mit.edu	37	7	99705659	99705659	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:99705659G>A	ENST00000344095.4	-	14	2071	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	TAF6_ENST00000453269.2_Missense_Mutation_p.P516S|TAF6_ENST00000452041.1_Missense_Mutation_p.P516S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.P440S|TAF6_ENST00000472509.1_Missense_Mutation_p.P573S|TAF6_ENST00000437822.2_Missense_Mutation_p.P553S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	516					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCTGGACAGGAAGTGCGATG	0.647000													5	46					0	0	0.014758	0	0
DOCK6	57572	broad.mit.edu	37	19	11333759	11333759	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:11333759G>C	ENST00000294618.7	-	25	2990	c.2979C>G	c.(2977-2979)ctC>ctG	p.L993L	DOCK6_ENST00000319867.7_Silent_p.L332L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	993					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCTGGCGTTGAGGTGCTCGG	0.617000													6	74					0	0	0.021553	0	0
RHEBL1	121268	broad.mit.edu	37	12	49462888	49462888	+	Splice_Site	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49462888C>T	ENST00000301068.6	-	2	293	c.52_splice	c.e2-1	p.G18_splice		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	18					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						AAGATGTCTTCCCTGTGGGGA	0.502000													26	69					0	0	0.083992	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266111	3266111	+	RNA	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:3266111C>G	ENST00000576468.1	+	0	418																											GACTCTCATTCTGTGCAGACA	0.532000													7	36					0	0	0.029380	0	0
MDH1	4190	broad.mit.edu	37	2	63831977	63831977	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:63831977G>A	ENST00000233114.8	+	6	1081	c.646G>A	c.(646-648)Gac>Aac	p.D216N	MDH1_ENST00000539945.1_Missense_Mutation_p.D234N|MDH1_ENST00000409908.1_Missense_Mutation_p.D51N|MDH1_ENST00000409476.1_Missense_Mutation_p.D92N|MDH1_ENST00000544381.1_Missense_Mutation_p.D127N|MDH1_ENST00000394423.1_Missense_Mutation_p.D216N	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	216					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	TCTGAAAGATGACAGCTGGCT	0.433000													8	46					0	0	0.069234	0	0
USF1	7391	broad.mit.edu	37	1	161011934	161011934	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:161011934C>T	ENST00000368021.3	-	5	452	c.248G>A	c.(247-249)gGc>gAc	p.G83D	USF1_ENST00000368019.1_Missense_Mutation_p.G83D|USF1_ENST00000368020.1_Missense_Mutation_p.G83D|USF1_ENST00000435396.1_Missense_Mutation_p.G24D	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	83					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCAGGGTAGCCACTGATGGC	0.547000													7	54					0	0	0.029380	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47189775	47189775	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:47189775C>G	ENST00000524782.1	-	11	1197	c.969G>C	c.(967-969)gaG>gaC	p.E323D	ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.E187D|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.E54D|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.E216D	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	323	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCACCTGCATCTCAGACAGCA	0.552000													8	55					0	0	0.038147	0	0
ATF7IP	55729	broad.mit.edu	37	12	14589102	14589102	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:14589102C>T	ENST00000544627.1	+	4	2052	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.R569C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.R570C|ATF7IP_ENST00000540793.1_Missense_Mutation_p.R570C|ATF7IP_ENST00000543189.1_Missense_Mutation_p.R569C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	570	Glu-rich.|Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTCTAAACGTCGTCGATATAT	0.353000													24	67					0	0	0.083992	0	0
MAP3K1	4214	broad.mit.edu	37	5	56179360	56179360	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:56179360G>C	ENST00000399503.3	+	15	3673	c.3673G>C	c.(3673-3675)Gag>Cag	p.E1225Q		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1225					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTAGACACCAGAGACTCTACC	0.368000													3	56					0	0	0.115264	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821900	5821900	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:5821900G>C	ENST00000381095.3	-	5	1446	c.819C>G	c.(817-819)ttC>ttG	p.F273L	NLGN4X_ENST00000275857.6_Missense_Mutation_p.F273L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.F273L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.F273L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.F293L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	273					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCCTTCTGGAAGAGACCTG	0.527000													9	66					0	0	0.069234	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34635701	34635701	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:34635701G>C	ENST00000378892.1	-	3	760	c.333C>G	c.(331-333)ttC>ttG	p.F111L	SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Missense_Mutation_p.F169L|SIGMAR1_ENST00000277010.4_Missense_Mutation_p.F200L			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	200					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	GAAGAGTATAGAAGAGGGTGA	0.622000													9	34					0	0	0.058154	0	0
HELZ	9931	broad.mit.edu	37	17	65083187	65083187	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:65083187C>G	ENST00000358691.5	-	32	5418	c.5252G>C	c.(5251-5253)aGa>aCa	p.R1751T	HELZ_ENST00000580168.1_Missense_Mutation_p.R1752T	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACCAGGTCCTCTGGGCTCATA	0.428000													8	36					0	0	0.038147	0	0
RIN1	9610	broad.mit.edu	37	11	66102285	66102285	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:66102285C>A	ENST00000311320.4	-	6	1111	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Missense_Mutation_p.G224W|RIN1_ENST00000424433.2_Missense_Mutation_p.G224W	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	329	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCCCGGGACCCTGGCACCCCC	0.721000													2	2					0.0016	0.00165714	0.115264	1	0
KCTD19	146212	broad.mit.edu	37	16	67328549	67328549	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:67328549G>C	ENST00000304372.5	-	11	1579	c.1524C>G	c.(1522-1524)atC>atG	p.I508M		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	508						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCAGCCTCCTGATGGAAAAAG	0.488000													3	128					0	0	0.150653	0	0
LRCH1	23143	broad.mit.edu	37	13	47303005	47303005	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:47303005C>T	ENST00000311191.6	+	17	2017	c.1788C>T	c.(1786-1788)gtC>gtT	p.V596V	LRCH1_ENST00000389798.3_Silent_p.V596V|LRCH1_ENST00000389797.3_Silent_p.V631V	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	596	CH.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GATTGAAGGTCAGTCTACACG	0.488000													18	117					0	0	0.055883	0	0
PPM1A	5494	broad.mit.edu	37	14	60749451	60749451	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:60749451G>A	ENST00000395076.4	+	2	460	c.30G>A	c.(28-30)atG>atA	p.M10I	PPM1A_ENST00000529574.1_Missense_Mutation_p.M10I|PPM1A_ENST00000325642.3_Missense_Mutation_p.M83I|PPM1A_ENST00000325658.3_Missense_Mutation_p.M10I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	10					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	p.M10I(1)|p.M83I(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AGCCAAAGATGGAAAAGCATA	0.443000													15	163					0	0	0.119110	0	0
CNTN4	152330	broad.mit.edu	37	3	2908579	2908579	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:2908579G>A	ENST00000397461.1	+	7	982	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	CNTN4_ENST00000427331.1_Missense_Mutation_p.V200M|CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.V200M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	200	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TACCAATACCGTGACAAACCA	0.398000													8	54					0	0	0.069234	0	0
LTK	4058	broad.mit.edu	37	15	41804373	41804373	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:41804373G>C	ENST00000263800.6	-	4	546	c.450C>G	c.(448-450)ctC>ctG	p.L150L	LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Silent_p.L150L|LTK_ENST00000355166.5_Silent_p.L150L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	150					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCCCGAGACCGAGGGAGAAGA	0.697000										TSP Lung(18;0.14)			3	29					0	0	0.014758	0	0
SRRM3	222183	broad.mit.edu	37	7	75896598	75896598	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:75896598G>A	ENST00000388802.4	+	11	1062	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	SRRM3_ENST00000326382.8_Missense_Mutation_p.E285K|SRRM3_ENST00000464752.1_3'UTR					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GCACCGAGACGAAGGGCGAAA	0.706000													4	13					0	0	0.021553	0	0
ATP2B4	493	broad.mit.edu	37	1	203708719	203708719	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:203708719C>G	ENST00000357681.5	+	21	4478	c.3355C>G	c.(3355-3357)Cag>Gag	p.Q1119E	ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000341360.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1155					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGAAAGCATTCAGAAACCCTA	0.488000													16	101					0	0	0.043863	0	0
TBL1X	6907	broad.mit.edu	37	X	9683006	9683006	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:9683006G>A	ENST00000217964.7	+	17	2310	c.1670G>A	c.(1669-1671)cGa>cAa	p.R557Q	TBL1X_ENST00000536365.1_Missense_Mutation_p.R506Q|TBL1X_ENST00000407597.2_Missense_Mutation_p.R557Q|TBL1X_ENST00000380961.1_Missense_Mutation_p.R506Q|TBL1X_ENST00000424279.1_Missense_Mutation_p.R506Q	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	557					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGGAACGCCCGAGGAGACAAA	0.587000													8	29					0	0	0.047766	0	0
STYXL1	51657	broad.mit.edu	37	7	75643194	75643194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:75643194G>A	ENST00000451157.1	-	5	488	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000359697.3_Nonsense_Mutation_p.Q107*|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000248600.1_Nonsense_Mutation_p.Q107*|STYXL1_ENST00000360591.3_Intron|STYXL1_ENST00000431581.1_Nonsense_Mutation_p.Q107*			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	107	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ATGGCTGCTTGAGGCACAAGA	0.522000													23	129					0	0	0.069288	0	0
IST1	9798	broad.mit.edu	37	16	71961649	71961649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:71961649C>G	ENST00000378799.6	+	10	1390	c.1034C>G	c.(1033-1035)tCa>tGa	p.S345*	IST1_ENST00000329908.8_Missense_Mutation_p.Q344E|IST1_ENST00000606369.1_Nonsense_Mutation_p.S197*|IST1_ENST00000378798.5_Nonsense_Mutation_p.S314*|IST1_ENST00000538850.1_Nonsense_Mutation_p.S197*|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000541571.2_Nonsense_Mutation_p.S345*|IST1_ENST00000535424.1_Nonsense_Mutation_p.S358*|IST1_ENST00000544564.1_Nonsense_Mutation_p.S345*	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	343	Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										GCCAGCACCTCAGCATCTGAA	0.463000													10	253					0	0	0.093190	0	0
DHODH	1723	broad.mit.edu	37	16	72057137	72057137	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:72057137C>G	ENST00000572887.1	+	7	1070	c.893C>G	c.(892-894)tCt>tGt	p.S298C	DHODH_ENST00000219240.4_Missense_Mutation_p.S298C|DHODH_ENST00000573922.1_3'UTR			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	298					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GCCCTGCGCTCTGAAACAGGA	0.562000													8	51					0	0	0.058154	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592795	125592795	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:125592795C>T	ENST00000504087.1	-	4	2674	c.1637G>A	c.(1636-1638)aGa>aAa	p.R546K	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R367K	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	546										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAATAATGTTCTCCCATTTGA	0.398000													6	64					0	0	0.029380	0	0
ZP4	57829	broad.mit.edu	37	1	238045807	238045807	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:238045807G>C	ENST00000366570.4	-	12	1696	c.1538C>G	c.(1537-1539)tCt>tGt	p.S513C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	513					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.S513fs*4(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAAGGTCCCAGAAAGGCCTGC	0.453000													15	75					0	0	0.146539	0	0
TIMELESS	8914	broad.mit.edu	37	12	56818549	56818549	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56818549G>A	ENST00000229201.4	-	15	2016	c.1862C>T	c.(1861-1863)gCt>gTt	p.A621V	TIMELESS_ENST00000553532.1_Missense_Mutation_p.A622V|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	622					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						TTCTTACCGAGCAGACCTCAG	0.587000													5	85					0	0	0.029380	0	0
ZNF74	7625	broad.mit.edu	37	22	20755021	20755021	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:20755021G>C	ENST00000400451.2	+	3	734	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	ZNF74_ENST00000403682.3_Missense_Mutation_p.G45A|ZNF74_ENST00000356671.5_Missense_Mutation_p.E74Q|ZNF74_ENST00000357502.5_Missense_Mutation_p.G79A|ZNF74_ENST00000405993.1_Missense_Mutation_p.E74Q	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	74	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGTGATGTTGGAGAACTACCA	0.542000													9	134					0	0	0.058154	0	0
OR6A2	8590	broad.mit.edu	37	11	6816674	6816674	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:6816674G>A	ENST00000332601.3	-	1	454	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATCCTGTTTGGATCCAACAAA	0.458000													12	62					0	0	0.160694	0	0
NF2	4771	broad.mit.edu	37	22	30038255	30038255	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:30038255C>T	ENST00000338641.4	+	4	869	c.428C>T	c.(427-429)tCt>tTt	p.S143F	NF2_ENST00000347330.5_Missense_Mutation_p.S60F|NF2_ENST00000397789.3_Missense_Mutation_p.S143F|NF2_ENST00000403435.1_Missense_Mutation_p.S143F|NF2_ENST00000413209.2_Missense_Mutation_p.S143F|NF2_ENST00000403999.3_Missense_Mutation_p.S143F|NF2_ENST00000361452.4_Missense_Mutation_p.S102F|NF2_ENST00000353887.4_Missense_Mutation_p.S60F|NF2_ENST00000361166.4_Missense_Mutation_p.S143F|NF2_ENST00000361676.4_Missense_Mutation_p.S101F|NF2_ENST00000334961.7_Missense_Mutation_p.S60F	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	143	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.K123fs*2(1)|p.A142fs*8(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTCCTGGCTTCTTACGCCGTC	0.458000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				12	97					0	0	0.093190	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194207	160194207	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:160194207C>A	ENST00000392783.2	-	32	6026	c.5531G>T	c.(5530-5532)tGc>tTc	p.C1844F	BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1808F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1810F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1744F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATGCTCCTTGCACAATTTAGT	0.423000													14	76					9.31168e-06	9.91668e-06	0.105934	1	0
LRRC55	219527	broad.mit.edu	37	11	56954823	56954823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:56954823G>A	ENST00000497933.1	+	2	1042	c.895G>A	c.(895-897)Gat>Aat	p.D299N		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	269						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTGACCCTGGATGATTACCT	0.607000													9	77					0	0	0.069234	0	0
MCOLN3	55283	broad.mit.edu	37	1	85488044	85488044	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:85488044T>C	ENST00000370589.2	-	10	1187	c.1135A>G	c.(1135-1137)Act>Gct	p.T379A	MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.T323A	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	379						integral to membrane	ion channel activity	p.T379P(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATGGTAGAAGTCCCAAGAAGT	0.388000													5	29					0	0	0.021553	0	0
PCDH1	5097	broad.mit.edu	37	5	141244811	141244811	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:141244811C>T	ENST00000287008.3	-	3	1232	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.R362Q|PCDH1_ENST00000536585.1_Missense_Mutation_p.R340Q|PCDH1_ENST00000456271.1_Missense_Mutation_p.R350Q	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	362	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTTGGTGCCTCGGTCCTTAGC	0.582000													14	102					0	0	0.105934	0	0
ROCK2	9475	broad.mit.edu	37	2	11364578	11364578	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:11364578G>T	ENST00000315872.6	-	7	1325	c.877C>A	c.(877-879)Cca>Aca	p.P293T	ROCK2_ENST00000401753.1_Missense_Mutation_p.P50T	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	293	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GCATAAAATGGAGTATCCCCT	0.318000													11	98					3.07112e-06	3.29861e-06	0.080935	1	0
FCF1	51077	broad.mit.edu	37	14	75200790	75200790	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:75200790C>T	ENST00000341162.4	+	7	519	c.465C>T	c.(463-465)taC>taT	p.Y155Y	FCF1_ENST00000553615.1_Silent_p.Y140Y|FCF1_ENST00000534938.2_Silent_p.Y143Y	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	155	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		ATAAGTGTTACATTGTGGCCA	0.443000													10	41					0	0	0.069234	0	0
HUWE1	10075	broad.mit.edu	37	X	53589797	53589797	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:53589797C>T	ENST00000342160.3	-	52	7656	c.7199G>A	c.(7198-7200)cGa>cAa	p.R2400Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2400Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2400	Glu-rich.				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						CTCACCTTCTCGGTTGGCCTG	0.562000													17	84					0	0	0.175082	0	0
HTR1A	3350	broad.mit.edu	37	5	63256583	63256583	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:63256583C>G	ENST00000323865.3	-	1	1197	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	322					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTTTTCCTCTCGAAAGAGGCG	0.617000													4	51					0	0	0.014758	0	0
UCK2	7371	broad.mit.edu	37	1	165872469	165872469	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:165872469C>G	ENST00000367879.4	+	5	853	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	184					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GATTTTATCTCAGTACATTAC	0.408000													7	124					0	0	0.038147	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116057054	116057054	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:116057054C>G	ENST00000369271.3	-	17	2532	c.2232G>C	c.(2230-2232)ctG>ctC	p.L744L	AFAP1L2_ENST00000304129.4_Silent_p.L744L|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Silent_p.L797L	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	744					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAGCCTTCTTCAGGTTGTCCT	0.627000													6	34					0	0	0.029380	0	0
OR2T12	127064	broad.mit.edu	37	1	248458752	248458752	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:248458752C>A	ENST00000317996.1	-	1	128	c.129G>T	c.(127-129)atG>atT	p.M43I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TCAGGAGAATCATGAGGGCAT	0.522000													21	83					4.16121e-05	4.40668e-05	0.076483	1	0
ZNF451	26036	broad.mit.edu	37	6	57015615	57015615	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:57015615C>T	ENST00000370706.4	+	11	2951	c.2707C>T	c.(2707-2709)Cta>Tta	p.L903L	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Silent_p.L903L|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTTGGTCATCTACCAGGGCA	0.358000													17	106					0	0	0.160694	0	0
ZNF513	130557	broad.mit.edu	37	2	27600989	27600989	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:27600989C>T	ENST00000323703.6	-	4	1247	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.G288E	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	350					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGCCCCCCACTGGCACC	0.652000													10	69					0	0	0.069234	0	0
TRIM10	10107	broad.mit.edu	37	6	30126982	30126982	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:30126982C>G	ENST00000449742.2	-	2	545	c.470G>C	c.(469-471)aGa>aCa	p.R157T	TRIM10_ENST00000376704.3_Missense_Mutation_p.R157T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	157						cytoplasm	zinc ion binding			ovary(1)	1						AATCTCCTCTCTCTCTTTTCT	0.423000													3	61					0	0	0.115264	0	0
TSPAN31	6302	broad.mit.edu	37	12	58140808	58140808	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:58140808A>G	ENST00000547992.1	+	3	332	c.200A>G	c.(199-201)aAg>aGg	p.K67R	TSPAN31_ENST00000547472.1_Missense_Mutation_p.K68R|TSPAN31_ENST00000257910.3_Missense_Mutation_p.K151R|TSPAN31_ENST00000553221.1_3'UTR			Q12999	TSN31_HUMAN	tetraspanin 31	151					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGATCTGCAAGAGCCAGAGC	0.423000													4	164					0	0	0.014758	0	0
KIAA1009	22832	broad.mit.edu	37	6	84895136	84895136	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:84895136C>G	ENST00000403245.3	-	13	1546	c.1432G>C	c.(1432-1434)Gaa>Caa	p.E478Q	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E402Q	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	478					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ACAGCCCCTTCTTCTTCAGAA	0.363000													9	97					0	0	0.047766	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924109	43924109	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:43924109G>A	ENST00000329196.5	+	1	1854	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	613						integral to membrane	aspartic-type endopeptidase activity										GGATCCTAATGAGCTGCCCTT	0.592000													13	44					0	0	0.105934	0	0
MYL6B	140465	broad.mit.edu	37	12	56548600	56548600	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56548600G>A	ENST00000553066.1	+	3	600	c.178G>A	c.(178-180)Gag>Aag	p.E60K	MYL6B_ENST00000207437.5_Missense_Mutation_p.E60K|MYL6B_ENST00000552568.1_Missense_Mutation_p.E60K|MYL6B_ENST00000550152.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Missense_Mutation_p.E60K			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	60					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TCCACAGATCGAGTTTAACAA	0.532000													29	198					0	0	0.183431	0	0
PLSCR5	389158	broad.mit.edu	37	3	146307603	146307603	+	Splice_Site	SNP	T	T	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:146307603T>A	ENST00000443512.1	-	6	1619		c.e6-2		PLSCR5_ENST00000482567.1_Splice_Site|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Splice_Site	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GGTTTTCACCTTTAGAAAGAA	0.299000													4	110					0	0	0.150653	0	0
PLIN1	5346	broad.mit.edu	37	15	90210983	90210983	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:90210983C>T	ENST00000300055.5	-	7	978	c.813G>A	c.(811-813)gcG>gcA	p.A271A	PLIN1_ENST00000430628.2_Silent_p.A271A	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	271			A -> V (in dbSNP:rs58361219).		triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GCCGGGACACCGCCTGCATGG	0.677000													3	6					0	0	0.115264	0	0
PTPRA	5786	broad.mit.edu	37	20	3007774	3007774	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:3007774C>G	ENST00000216877.6	+	18	2089	c.1689C>G	c.(1687-1689)ttC>ttG	p.F563L	PTPRA_ENST00000425918.2_Missense_Mutation_p.F583L|PTPRA_ENST00000318266.5_Missense_Mutation_p.F563L|PTPRA_ENST00000399903.2_Missense_Mutation_p.F572L|PTPRA_ENST00000356147.3_Missense_Mutation_p.F563L|PTPRA_ENST00000380393.3_Missense_Mutation_p.F572L|PTPRA_ENST00000358719.4_Missense_Mutation_p.F428L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	572	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGATGAATTCAACAGAGTGA	0.493000													9	107					0	0	0.069234	0	0
C7orf10	79783	broad.mit.edu	37	7	40723654	40723654	+	Splice_Site	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:40723654G>C	ENST00000309930.5	+	13	1134		c.e13-1		C7orf10_ENST00000401647.2_Intron|C7orf10_ENST00000335693.4_Intron	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10								transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						gttgtcaatagaacgctgtct	0.483000													9	41					0	0	0.047766	0	0
SAV1	60485	broad.mit.edu	37	14	51102087	51102087	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:51102087C>T	ENST00000324679.4	-	5	1329	c.966G>A	c.(964-966)ctG>ctA	p.L322L		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	322	SARAH.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTTCCCACTTCAGAATGTGGT	0.343000													11	30					0	0	0.093190	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238404	71238404	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:71238404G>T	ENST00000398536.4	+	1	92	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	20						keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGGCTCCGGCTGTGGGGG	0.657000													4	173					0.150653	0.151862	0.150653	1	0
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:154842331_154842333delTGC	ENST00000271915.3	-	1	423_425	c.108_110delGCA	c.(106-111)caa>ca	p.QQ40del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	40	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ctgctgctgttgctgctgctgct	0.670													3	5	---	---	---	---					
BOD1L1	259282	broad.mit.edu	37	4	13582680	13582681	+	Splice_Site	INS	-	-	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:13582680_13582681insA	ENST00000040738.5	-	21	8804		c.e21-2			NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1								DNA binding										AGTCGTCTTCTAAAAAAAAAAA	0.337													3	6	---	---	---	---					
CC2D2A	57545	broad.mit.edu	37	4	15513005	15513007	+	In_Frame_Del	DEL	GAA	GAA	-	rs112367037		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:15513005_15513007delGAA	ENST00000424120.1	+	8	930_932	c.676_678delGAA	c.(676-678)del	p.E229del	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000389652.5_In_Frame_Del_p.E180del|CC2D2A_ENST00000503292.1_In_Frame_Del_p.E229del			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	229	Poly-Glu.				cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGAGGAAGGGGAAGAAGAAGAAC	0.443													8	19	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123984449	123984449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:123984449delA	ENST00000306315.5	-	4	2063	c.1628delT	c.(1627-1629)tgfs	p.L543fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.L116fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	543						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTTGGTCCAAAAAAGTAGT	0.502													7	190	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													3	5	---	---	---	---					
R3HDML	140902	broad.mit.edu	37	20	42965898	42965898	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:42965898delC	ENST00000217043.2	+	1	273	c.101delC	c.(100-102)gcfs	p.A34fs		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	34						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGCCCCGGCCCAGCCCGAG	0.647													13	74	---	---	---	---