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
NGEF	25791	broad.mit.edu	37	2	233759484	233759484	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:233759484A>G	ENST00000264051.3	-	6	1249	c.971T>C	c.(970-972)gTg>gCg	p.V324A	NGEF_ENST00000373552.4_Missense_Mutation_p.V232A|NGEF_ENST00000409079.1_Missense_Mutation_p.V232A|NGEF_ENST00000539537.1_Missense_Mutation_p.V47A	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	324	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GACAGCCAGCACGTCCAGGAC	0.602000													30	64					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51017471	51017471	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:51017471C>G	ENST00000261854.5	-	12	1470	c.1196G>C	c.(1195-1197)aGt>aCt	p.S399T	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	399						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GAGGCACACACTCATTACTGA	0.313000													36	79					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100523693	100523693	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:100523693G>A	ENST00000471714.1	-	51	3830	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R518C|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R564C			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	564						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCAGTAACACGCTGGGGCACC	0.398000													13	33					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100965580	100965580	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:100965580G>A	ENST00000375066.5	-	10	2352	c.2261C>T	c.(2260-2262)aCg>aTg	p.T754M	TBC1D2_ENST00000375064.1_Missense_Mutation_p.T754M|TBC1D2_ENST00000342112.5_Missense_Mutation_p.T536M|TBC1D2_ENST00000375063.1_Missense_Mutation_p.T294M	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	754	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTGGGATGCCGTCAGCGTGTT	0.587000													5	157					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995732	144995732	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:144995732C>T	ENST00000322810.4	-	32	8837	c.8668G>A	c.(8668-8670)Gct>Act	p.A2890T	PLEC_ENST00000356346.3_Missense_Mutation_p.A2739T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2776T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2780T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2757T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2721T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2753T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2731T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2753T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2890	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTTCACAGCCTCGTTGACG	0.687000													26	36					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56175034	56175034	+	Missense_Mutation	SNP	G	G	C			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:56175034G>C	ENST00000450554.2	+	7	1625	c.666G>C	c.(664-666)caG>caC	p.Q222H	U2AF2_ENST00000590551.1_Missense_Mutation_p.Q58H|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.Q222H|CTD-2537I9.12_ENST00000585940.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	222	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCAGGGCCAGTCACTAAAGA	0.567000													10	95					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96352241	96352241	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:96352241G>A	ENST00000348459.5	+	17	2046	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	HELLS_ENST00000394036.1_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Silent_p.G549G|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Silent_p.G693G	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	647	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGCTTGATGGGTCCATGTCTT	0.343000													8	31					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192669	179192669	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:179192669C>T	ENST00000292599.3	+	2	921	c.658C>T	c.(658-660)Cct>Tct	p.P220S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	220					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCAGGAGCCTGTCGAAGA	0.517000													4	40					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192257829	192257829	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:192257829C>T	ENST00000392318.3	+	20	2354	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	MYO1B_ENST00000339514.4_Missense_Mutation_p.R703C|MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000392316.1_Missense_Mutation_p.R703C|MYO1B_ENST00000304164.4_Missense_Mutation_p.R703C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	703						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)			GAGGAAGCAACGCCTGGAGGA	0.413000													3	50					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													5	39					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110584240	110584240	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:110584240C>T	ENST00000369795.3	+	7	755	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	STRIP1_ENST00000369796.1_Missense_Mutation_p.R150W	NM_033088.2	NP_149079.2			striatin interacting protein 1																		GAGGACCATGCGGCAGACCTT	0.592000													3	31					0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43275627	43275627	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43275627C>T	ENST00000372569.3	-	3	150	c.146G>A	c.(145-147)gGg>gAg	p.G49E	CRIP3_ENST00000274990.4_Missense_Mutation_p.G49E|ZNF318_ENST00000607252.1_5'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	49	LIM zinc-binding 1.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTATGGCCTCCCATTGTGCTG	0.607000													3	30					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44489821	44489821	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr22:44489821G>A	ENST00000338758.6	+	2	189	c.126G>A	c.(124-126)caG>caA	p.Q42Q	PARVB_ENST00000406477.3_Silent_p.Q75Q|PARVB_ENST00000404989.1_Silent_p.Q5Q|PARVB_ENST00000402876.3_Silent_p.Q42Q|PARVB_ENST00000477795.1_3'UTR	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	42					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTGACCTGCAGGAAGAAGGCA	0.547000													42	84					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832988	24832988	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:24832988A>T	ENST00000376451.2	+	14	4098	c.3838A>T	c.(3838-3840)Aag>Tag	p.K1280*	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.K1597*			Q5T5P2	SKT_HUMAN	KIAA1217	1597					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAAACAGGGAAGAAGACTTT	0.463000													11	91					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733157	152733157	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:152733157G>A	ENST00000368773.1	+	2	1151	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KPRP_ENST00000606109.1_Missense_Mutation_p.A365T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	365	Pro-rich.					cytoplasm		p.A365T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGGGCGCCTCCTGCCC	0.662000													13	75					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251409	43251409	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43251409G>A	ENST00000259750.4	+	14	3014	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	977						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCCCGAGCGCCCCTGGAGA	0.697000													25	31					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130570869	130570869	+	Silent	SNP	C	C	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:130570869C>G	ENST00000373225.3	+	10	914	c.705C>G	c.(703-705)gcC>gcG	p.A235A	FPGS_ENST00000373245.1_Intron|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373247.2_Silent_p.A285A|FPGS_ENST00000393706.2_Silent_p.A259A	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	285					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TGCTGGAGGCCCTCGAGGAAG	0.687000													17	20					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49845721	49845721	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:49845721C>T	ENST00000377214.4	-	10	1575	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	TEAD2_ENST00000598810.1_Missense_Mutation_p.V406I|TEAD2_ENST00000601519.1_Missense_Mutation_p.V405I|TEAD2_ENST00000539846.1_Missense_Mutation_p.V274I|TEAD2_ENST00000311227.2_Missense_Mutation_p.V402I|TEAD2_ENST00000593945.1_Missense_Mutation_p.V406I			Q15562	TEAD2_HUMAN	TEA domain family member 2	402	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TTTTCCAGGACGCTGTTCATC	0.572000													26	30					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	7242	7242	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrM:7242T>C	ENST00000361624.2	+	1	1339	c.1339T>C	c.(1339-1341)Tac>Cac	p.447_447insH						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ACCCCGATGCATACACCACAT	0.418000													6	366					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508741	71508741	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:71508741C>T	ENST00000396073.3	+	9	1879	c.1598C>T	c.(1597-1599)aCt>aTt	p.T533I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	533					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAATCAGAAACTAATCAGTCA	0.413000													27	52					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87943087	87943087	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:87943087A>G	ENST00000369577.3	+	5	626	c.583A>G	c.(583-585)Aga>Gga	p.R195G	ZNF292_ENST00000339907.4_Missense_Mutation_p.R190G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTGGATATGAGAATTAAACA	0.308000													8	21					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596597	97596597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:97596597C>T	ENST00000182096.4	+	1	779	c.715C>T	c.(715-717)Cag>Tag	p.Q239*		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CCCTGATGACCAGGAGAGCGT	0.468000													10	20					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45422914	45422914	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr18:45422914T>C	ENST00000402690.2	-	2	608	c.214A>G	c.(214-216)Act>Gct	p.T72A	SMAD2_ENST00000591214.1_Missense_Mutation_p.T72A|SMAD2_ENST00000262160.6_Missense_Mutation_p.T72A|SMAD2_ENST00000586040.1_Missense_Mutation_p.T72A|SMAD2_ENST00000356825.4_Missense_Mutation_p.T72A	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	72	MH1.				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						ACACATTTAGTATTACAGTTT	0.368000													6	70					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63336271	63336271	+	Missense_Mutation	SNP	G	G	A	rs104894505		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:63336271G>A	ENST00000357980.4	+	3	365	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TPM1_ENST00000358278.3_Missense_Mutation_p.E54K|TPM1_ENST00000559556.1_Missense_Mutation_p.E54K|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000288398.6_Missense_Mutation_p.E54K|TPM1_ENST00000403994.3_Missense_Mutation_p.E54K|TPM1_ENST00000560445.1_Missense_Mutation_p.E54K			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	54					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CAAGGGCACCGAAGATGAACT	0.562000													9	24					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166813	32166813	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32166813G>A	ENST00000375023.3	-	24	4563	c.4425C>T	c.(4423-4425)cgC>cgT	p.R1475R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1475	Poly-Arg.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATGCTCTCGGCGTCGACGCC	0.677000													32	41					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53877509	53877509	+	Splice_Site	SNP	T	T	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:53877509T>A	ENST00000267079.2	-	10	1485		c.e10-2		MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547035.1_Splice_Site	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						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						AGGGCGTGTCTGCAACGGGCA	0.507000													8	50					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													5	39					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850550	3850550	+	Missense_Mutation	SNP	C	C	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:3850550C>A	ENST00000380274.1	+	1	931	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	FAM50B_ENST00000380272.3_Missense_Mutation_p.L169M			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	169						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCGAGAGGAGCTGCGCCAAGA	0.687000													6	25					1	1	1	1	0
SPINK4	27290	broad.mit.edu	37	9	33221060	33221060	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:33221060G>A	ENST00000379725.1	+	2	206	c.84G>A	c.(82-84)tcG>tcA	p.S28S	SPINK4_ENST00000379723.1_Silent_p.S28S			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	0						extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGGATGCTTCGCACACAGACC	0.517000													4	42					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								16	49					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164050323	164050323	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:164050323T>C	ENST00000274054.2	-	8	1404	c.1211A>G	c.(1210-1212)cAg>cGg	p.Q404R	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	404					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TGAAGTCTCCTGAGATACCAT	0.458000													9	42					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98764460	98764460	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:98764460C>T	ENST00000266058.4	-	33	3945	c.3700G>A	c.(3700-3702)Gcc>Acc	p.A1234T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A1234T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1234	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGATGGCAGAGCTGGGG	0.602000													14	49					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	110					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46909433	46909433	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr21:46909433A>G	ENST00000359759.4	+	18	3223	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E	COL18A1_ENST00000400337.2_Missense_Mutation_p.K653E|COL18A1_ENST00000355480.5_Missense_Mutation_p.K833E			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1068	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCGGGGGCGAAGGTAAGCGC	0.706000													10	10					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793348	114793348	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:114793348C>T	ENST00000310346.4	-	9	2212	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	TBX5_ENST00000349716.5_Missense_Mutation_p.D466N|TBX5_ENST00000405440.2_Missense_Mutation_p.D516N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	516				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TAGCTATTGTCGCTCCACTCT	0.517000													7	45					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299837	15299837	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:15299837G>A	ENST00000263388.2	-	8	1416	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	447	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTATGCGGTCGAGGCACGTGG	0.667000													7	31					0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48339829	48339829	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:48339829G>T	ENST00000019019.2	+	9	913	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	FTSJ1_ENST00000348411.2_Missense_Mutation_p.D162Y|FTSJ1_ENST00000456787.1_Missense_Mutation_p.D162Y|FTSJ1_ENST00000396894.4_Missense_Mutation_p.D25Y|FTSJ1_ENST00000496365.1_3'UTR	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	162					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCGAGGCCGGGATGTGACGCT	0.602000													29	8					3.99451e-17	4.15867e-17	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412597	139412597	+	Missense_Mutation	SNP	C	C	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:139412597C>A	ENST00000277541.6	-	7	1322	c.1247G>T	c.(1246-1248)tGc>tTc	p.C416F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	416	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCAGCGAGCACTCATCCAC	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	6					5.68852e-11	5.84227e-11	1	1	0
PNPLA1	285848	broad.mit.edu	37	6	36262065	36262065	+	Silent	SNP	C	C	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:36262065C>A	ENST00000394571.2	+	4	603	c.603C>A	c.(601-603)ccC>ccA	p.P201P	PNPLA1_ENST00000388715.3_Silent_p.P106P|PNPLA1_ENST00000312917.5_Silent_p.P115P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	201					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACATCTGTCCCCGGGACTGCC	0.607000													22	112					9.57634e-11	9.70403e-11	1	1	0
SPATA22	84690	broad.mit.edu	37	17	3366004	3366004	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr17:3366004G>A	ENST00000573128.1	-	4	713	c.230C>T	c.(229-231)aCc>aTc	p.T77I	SPATA22_ENST00000397168.3_Missense_Mutation_p.T77I|SPATA22_ENST00000572969.1_Missense_Mutation_p.T77I|SPATA22_ENST00000268981.5_Missense_Mutation_p.T77I|SPATA22_ENST00000575375.1_Missense_Mutation_p.T77I|SPATA22_ENST00000541913.1_Missense_Mutation_p.T61I|SPATA22_ENST00000355380.4_Missense_Mutation_p.T34I			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	77										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CACATACCCGGTGTCCACTGT	0.363000													5	113					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964722	3964722	+	Silent	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:3964722C>T	ENST00000545797.2	-	3	573	c.330G>A	c.(328-330)tcG>tcA	p.S110S	DAPK3_ENST00000301264.3_Silent_p.S110S			O43293	DAPK3_HUMAN	death-associated protein kinase 3	110	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCGTCAGCGACTCCTTCT	0.592000													17	110					0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75457306	75457306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:75457306G>A	ENST00000443782.2	-	1	333	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Nonsense_Mutation_p.Q70*			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	70					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						GGCATCTCCTGGTCACGAATG	0.592000													13	172					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6718386	6718386	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:6718386C>T	ENST00000245907.6	-	3	397	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	102			R -> G (in allele C3F; associated with ARMD9; dbSNP:rs2230199).		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAACTTGTTGCGCCCCTTTTC	0.607000													9	122					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113215006	113215006	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:113215006G>A	ENST00000393020.1	+	13	1403	c.998G>A	c.(997-999)cGt>cAt	p.R333H	TTC12_ENST00000314756.3_Missense_Mutation_p.R333H|TTC12_ENST00000529221.1_Missense_Mutation_p.R333H|TTC12_ENST00000483239.2_Missense_Mutation_p.R339H|TTC12_ENST00000478125.1_3'UTR			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	333							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAAAACCAGCGTGTGCTAGTG	0.532000													69	113					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190325	32190325	+	Silent	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32190325C>T	ENST00000375023.3	-	3	552	c.414G>A	c.(412-414)tcG>tcA	p.S138S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	138	EGF-like 3.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGGCGGCCCGAGGCCTGGA	0.647000													5	57					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171511013	171511013	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:171511013C>G	ENST00000367742.3	+	16	4650	c.4408C>G	c.(4408-4410)Cca>Gca	p.P1470A	PRRC2C_ENST00000426496.2_Missense_Mutation_p.P1468A|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P1470A|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P1468A			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1468							protein C-terminus binding										GGCTCAAGAACCAGTTAATAC	0.428000													4	55					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36249251	36249251	+	Silent	SNP	G	G	A	rs147290887		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:36249251G>A	ENST00000396594.3	-	2	306	c.195C>T	c.(193-195)acC>acT	p.T65T	GNE_ENST00000447283.2_Silent_p.T34T|GNE_ENST00000377902.5_Silent_p.T34T|GNE_ENST00000539815.1_Silent_p.T34T|GNE_ENST00000539208.1_Intron|GNE_ENST00000543356.2_Intron	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	34					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACTCAGGTTCGGTTTTAATGC	0.408000													8	52					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592000													33	61					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	12514	12514	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrM:12514G>A	ENST00000361567.2	+	1	178	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	60					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	GCCTAGACCAAGAAGTTATTA	0.403000													7	263					0	0	1	0	0
PCDHGA9	0	broad.mit.edu	37	5	140783264	140783264	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:140783264G>A	ENST00000573521.1	+	1	745	c.745G>A	c.(745-747)Gtt>Att	p.V249I	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTACCGAGTTAAAGTCCT	0.537000													4	72					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187521295	187521295	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:187521295C>T	ENST00000441802.2	-	22	12069	c.11860G>A	c.(11860-11862)Ggc>Agc	p.G3954S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3954	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGATGTGGCCACCAAAAAAC	0.483000										HNSCC(5;0.00058)			5	41					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31359319	31359319	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:31359319C>T	ENST00000542188.1	-	5	929	c.616G>A	c.(616-618)Gga>Aga	p.G206R	TRPM1_ENST00000397795.2_Missense_Mutation_p.G167R|TRPM1_ENST00000256552.6_Missense_Mutation_p.G189R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	167					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGCAATTCCTATAGCACAA	0.453000													44	57					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42974286	42974286	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:42974286C>T	ENST00000485511.1	+	3	370	c.191C>T	c.(190-192)cCg>cTg	p.P64L	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.P56L|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.P64L|PPP2R5D_ENST00000461010.1_Intron	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	64					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AATAGCACGCCGCCCCCCACG	0.622000													58	97					0	0	1	0	0
SMUG1	23583	broad.mit.edu	37	12	54577582	54577582	+	Missense_Mutation	SNP	G	G	A	rs149806805	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:54577582G>A	ENST00000505128.1	-	3	265	c.143C>T	c.(142-144)tCg>tTg	p.S48L	SMUG1_ENST00000514685.1_Missense_Mutation_p.S48L|SMUG1_ENST00000514196.1_Missense_Mutation_p.S48L|SMUG1_ENST00000513838.1_Missense_Mutation_p.S48L|SMUG1_ENST00000401977.2_Missense_Mutation_p.S48L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000506595.1_Missense_Mutation_p.S48L|SMUG1_ENST00000243112.5_Missense_Mutation_p.S48L|SMUG1_ENST00000508394.2_Missense_Mutation_p.S48L|SMUG1_ENST00000337581.3_Missense_Mutation_p.S48L			Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	48				S -> L (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CACAGGCTCCGAAAACTGCAG	0.597000								Base excision repair (BER), DNA glycosylases					4	43					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154973	12154973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:12154973G>A	ENST00000602107.1	-	5	1383	c.1384C>T	c.(1384-1386)Cga>Tga	p.R462*	ZNF878_ENST00000547628.1_Nonsense_Mutation_p.R415*|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GTGTGAGTTCGTATGTGCTTT	0.433000													11	29					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240070879	240070879	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:240070879C>T	ENST00000255380.4	+	5	907	c.128C>T	c.(127-129)tCt>tTt	p.S43F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	43					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.S43Y(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TACAATGTTTCTCGAGCAGCT	0.562000													6	108					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44571252	44571252	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:44571252G>A	ENST00000591793.1	+	7	1684	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	ZNF223_ENST00000434772.3_Missense_Mutation_p.R424Q			Q9UK11	ZN223_HUMAN	zinc finger protein 223	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTCCATTGCCGAAAAAAACCA	0.413000													3	42					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152037637	152037637	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:152037637C>T	ENST00000370274.3	+	8	1293	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	NSDHL_ENST00000440023.1_Missense_Mutation_p.R367C	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	367					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCAGAGCTTTCGCCACCTGCG	0.552000													7	21					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814593	137814593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:137814593G>A	ENST00000409968.1	+	3	921	c.743G>A	c.(742-744)tGg>tAg	p.W248*	THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W248*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W217*|THSD7B_ENST00000543459.1_Nonsense_Mutation_p.W107*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTGGACCATGGAGTAAATGC	0.413000													37	55					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111835363	111835363	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:111835363C>T	ENST00000440460.2	+	2	448	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000529225.1_Missense_Mutation_p.R50W|DIXDC1_ENST00000531396.1_Missense_Mutation_p.R51W	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	51	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)		ACAAGATCTCCGGGATGGGGT	0.517000													7	9					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:92972658C>G	ENST00000523629.1	-	12	2081	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	543					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567000													9	36					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													6	129					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634978	179634978	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179634978C>G	ENST00000589042.1	-	36	8674	c.8450G>C	c.(8449-8451)aGt>aCt	p.S2817T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S2817T|TTN_ENST00000342992.6_Missense_Mutation_p.S2817T|TTN_ENST00000342175.6_Missense_Mutation_p.S2771T|TTN_ENST00000591111.1_Missense_Mutation_p.S2817T|TTN_ENST00000359218.5_Missense_Mutation_p.S2771T|TTN_ENST00000460472.2_Missense_Mutation_p.S2771T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2555							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)			ATGGGAAACACTAACTTCAAA	0.408000													8	84					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58097875	58097875	+	Splice_Site	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:58097875G>A	ENST00000357272.4	+	18	2740		c.e18-1		FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TATCTTTCCAGGTGTGGAAAA	0.522000													66	106					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73428355	73428355	+	Missense_Mutation	SNP	G	G	C			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:73428355G>C	ENST00000339362.5	+	6	1449	c.1002G>C	c.(1000-1002)gaG>gaC	p.E334D	NEO1_ENST00000560262.1_Missense_Mutation_p.E334D|NEO1_ENST00000261908.6_Missense_Mutation_p.E334D|NEO1_ENST00000558964.1_Missense_Mutation_p.E334D			Q92859	NEO1_HUMAN	neogenin 1	334	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCAAGCAGAGCTTACAGTGC	0.373000													11	23					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720137	179720137	+	Missense_Mutation	SNP	T	T	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179720137T>G	ENST00000420890.2	-	19	3114	c.2997A>C	c.(2995-2997)aaA>aaC	p.K999N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K424N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	424							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGTCACAACTTTGTCAAAGT	0.353000													4	35					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31659936	31659936	+	Silent	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr20:31659936C>T	ENST00000375494.3	+	13	1287	c.1287C>T	c.(1285-1287)agC>agT	p.S429S		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	429					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										AATGGCTCAGCCATGTGGTCG	0.532000													10	66					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91781979	91781980	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:91781979_91781980insT	ENST00000370425.3	-	26	2964_2965	c.2866_2867insA	c.(2866-2868)agafs	p.R956fs	HFM1_ENST00000370424.3_Frame_Shift_Ins_p.R635fs|HFM1_ENST00000294696.5_Frame_Shift_Ins_p.R188fs|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	956	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTCTCTTCTATTTTTTTAAAG	0.292													29	20	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)cta>ct	p.LL21del		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	21					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567													7	227	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													4	5	---	---	---	---					
KIAA1147	57189	broad.mit.edu	37	7	141362626	141362626	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr7:141362626delT	ENST00000536163.1	-	9	1197	c.1198delA	c.(1198-1200)tafs	p.I400fs	KIAA1147_ENST00000482493.1_Frame_Shift_Del_p.I296fs	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	400										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTCTGAAATATCCGGTTGTTT	0.502													10	3	---	---	---	---					
RP11-587D21.4	0	broad.mit.edu	37	11	27837592	27837593	+	RNA	DEL	GA	GA	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:27837592_27837593delGA	ENST00000530663.1	-	0	147																											ATCTGGAACTGAGAGAGAGGGA	0.446													2	4	---	---	---	---					
GLB1L2	89944	broad.mit.edu	37	11	134228963	134228988	+	Frame_Shift_Del	DEL	GACCGTGGCATTGTGGAACTGCTCCT	GACCGTGGCATTGTGGAACTGCTCCT	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:134228963_134228988delGACCGTGGCATTGTGGAACTGCTCCT	ENST00000535456.2	+	7	849_874	c.661_686delGACCGTGGCATTGTGGAACTGCTCCT	c.(661-687)gfs	p.DRGIVELLL221fs	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Frame_Shift_Del_p.DRGIVELLL221fs|GLB1L2_ENST00000389881.3_Frame_Shift_Del_p.DRGIVELLL221fs	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	221					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.L228I(1)|p.V225L(1)|p.R222H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCACTGGAGGACCGTGGCATTGTGGAACTGCTCCTGACTTCAGAC	0.606													16	204	---	---	---	---					
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)del	p.E168del		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.690													2	4	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54825250	54825250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:54825250delT	ENST00000545554.1	+	25	5682	c.5682delT	c.(5680-5682)gafs	p.D1894fs	UNC13C_ENST00000537900.1_Frame_Shift_Del_p.D1892fs|UNC13C_ENST00000260323.11_Frame_Shift_Del_p.D1894fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1894	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTTATGGATTTTTTGGACA	0.343													2	4	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42797750	42797750	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:42797750delA	ENST00000572681.2	+	17	6591	c.6523delA	c.(6523-6525)aafs	p.K2175fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K1266fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.K1268fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1268					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)				CCAGGCCAGCAAATTCCCCAG	0.637			"""Mis, F, S"""		oligodendroglioma								25	21	---	---	---	---