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
AGO2	27161	broad.mit.edu	37	8	141566084	141566084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr8:141566084C>T	ENST00000220592.5	-	10	1292	c.1180G>A	c.(1180-1182)Gtc>Atc	p.V394I	AGO2_ENST00000519980.1_Missense_Mutation_p.V394I	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		AATTCACGGACGTATGGATCT	0.562000													10	80					0	0	0.001368	0	0
SPTBN4	57731	broad.mit.edu	37	19	40993612	40993612	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:40993612G>A	ENST00000352632.3	+	3	264	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E60K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E60K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E60K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E60K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	60	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGAGCGGGAAGCCGTGCA	0.647000													8	103					0	0	0.004482	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	27					0	0	0.000248	0	0
PHYKPL	85007	broad.mit.edu	37	5	177649532	177649532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:177649532C>T	ENST00000308158.5	-	8	985	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		CGGCCAAAGCCAACCTGGATC	0.582000													12	45					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179594065	179594065	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:179594065A>G	ENST00000589042.1	-	64	19042	c.18818T>C	c.(18817-18819)gTa>gCa	p.V6273A	TTN_ENST00000591111.1_Missense_Mutation_p.V5956A|TTN_ENST00000342992.6_Missense_Mutation_p.V5029A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5956	Ig-like 44.						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)			TTCATTGGATACAATGCACTG	0.433000													11	63					0	0	0.000978	0	0
CNTRL	11064	broad.mit.edu	37	9	123852644	123852644	+	Silent	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:123852644G>C	ENST00000373855.1	+	4	569	c.309G>C	c.(307-309)ctG>ctC	p.L103L	CNTRL_ENST00000373865.2_Silent_p.L103L|CNTRL_ENST00000238341.5_Silent_p.L103L			Q7Z7A1	CNTRL_HUMAN	centriolin	103					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TAAAATCTCTGAACCTTTCAC	0.333000													10	98					0	0	0.000978	0	0
PER3	8863	broad.mit.edu	37	1	7870006	7870006	+	Silent	SNP	G	G	T	rs139242507		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:7870006G>T	ENST00000377532.3	+	11	1520	c.1296G>T	c.(1294-1296)tcG>tcT	p.S432S	PER3_ENST00000361923.2_Silent_p.S431S			P56645	PER3_HUMAN	period circadian clock 3	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGGGTCGCAGGAGCAGC	0.592000													11	34					9.70103e-10	2.54115e-09	0.008291	1	0
TRPM2	7226	broad.mit.edu	37	21	45833913	45833913	+	Silent	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr21:45833913C>G	ENST00000397928.1	+	20	3547	c.3102C>G	c.(3100-3102)ctC>ctG	p.L1034L	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.L1034L|TRPM2_ENST00000397932.2_Silent_p.L1034L|TRPM2_ENST00000300481.9_Silent_p.L1014L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1034						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTACCTGCTCTTCACCAACA	0.657000													38	299					0	0	0.006999	0	0
OR2M7	391196	broad.mit.edu	37	1	248487479	248487479	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:248487479C>G	ENST00000317965.2	-	1	420	c.392G>C	c.(391-393)aGa>aCa	p.R131T		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	131					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)			ATTGGTGTATCTTAGAGGGTG	0.438000													8	241					0	0	0.008291	0	0
FSTL5	56884	broad.mit.edu	37	4	163032465	163032465	+	Silent	SNP	A	A	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:163032465A>G	ENST00000306100.5	-	2	520	c.84T>C	c.(82-84)taT>taC	p.Y28Y	FSTL5_ENST00000536695.1_Silent_p.Y28Y|FSTL5_ENST00000379164.4_Silent_p.Y28Y|FSTL5_ENST00000427802.2_Silent_p.Y28Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	28						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATTTAAGGCCATATCCTCCTT	0.408000													14	116					0	0	0.003163	0	0
TACR3	6870	broad.mit.edu	37	4	104579371	104579371	+	Splice_Site	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:104579371C>T	ENST00000304883.2	-	2	878		c.e2+1			NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3							integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AATTAACTTACGTGAAATGTT	0.393000													16	50					0	0	0.004990	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120006	103120006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:103120006G>A	ENST00000295269.4	+	3	1277	c.820G>A	c.(820-822)Ggg>Agg	p.G274R		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	274					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CATCGTTGTGGGGCTTGGAGG	0.393000													8	46					0	0	0.004482	0	0
LAMB4	22798	broad.mit.edu	37	7	107752371	107752371	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr7:107752371G>A	ENST00000388781.3	-	4	296	c.213C>T	c.(211-213)atC>atT	p.I71I	LAMB4_ENST00000414450.2_Silent_p.I71I|LAMB4_ENST00000205386.4_Silent_p.I71I|LAMB4_ENST00000388780.3_Silent_p.I71I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	71	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAGAGTCACAGATGAAGCATT	0.348000													13	86					0	0	0.001855	0	0
MCF2L2	23101	broad.mit.edu	37	3	183017859	183017859	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:183017859G>A	ENST00000328913.3	-	11	1536	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	MCF2L2_ENST00000414362.2_Silent_p.I413I|MCF2L2_ENST00000447025.2_Silent_p.I413I|MCF2L2_ENST00000473233.1_Silent_p.I413I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	413					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGTTTCCATTGATGAAATCGT	0.488000													17	104					0	0	0.004990	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473028	22473028	+	RNA	SNP	C	C	T	rs3814940	by1000genomes	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr15:22473028C>T	ENST00000557788.2	-	0	242																											TCTTGAGGGACGGGTTGTAGT	0.567000													9	160					0	0	0.004482	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855677	12855677	+	Silent	SNP	C	C	G	rs142654121		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:12855677C>G	ENST00000332296.7	+	4	1060	c.957C>G	c.(955-957)ctC>ctG	p.L319L	PRAMEF1_ENST00000400814.3_Silent_p.L74L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	319										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCAAGCCTCGGTTACCTAA	0.493000													23	110					0	0	0.006320	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974590	64974590	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:64974590G>C	ENST00000399262.2	-	8	1555	c.1337C>G	c.(1336-1338)gCa>gGa	p.A446G	JMJD1C_ENST00000399251.1_Missense_Mutation_p.A227G|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A264G|JMJD1C_ENST00000402544.1_Missense_Mutation_p.A227G	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	446					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCGCTTCTCTGCTTCTTCATG	0.388000													29	42					0	0	0.001786	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174606603	174606603	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:174606603G>A	ENST00000251507.4	+	14	1975	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	601	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AGATGGTCAAGAATCGCTCTA	0.358000													16	57					0	0	0.004990	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726429	67726429	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:67726429T>A	ENST00000433211.1	-	17	2515	c.2341A>T	c.(2341-2343)Atc>Ttc	p.I781F	CTNNA3_ENST00000373735.1_Missense_Mutation_p.I120F|CTNNA3_ENST00000373744.4_Missense_Mutation_p.I781F	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	781					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGACTGCAGATTTTCAGTTGG	0.428000													14	46					0	0	0.004990	0	0
GPR174	84636	broad.mit.edu	37	X	78426986	78426986	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:78426986C>A	ENST00000276077.1	+	1	518	c.482C>A	c.(481-483)aCc>aAc	p.T161N		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	161						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						AGTGATGATACCTCTGGCAAT	0.478000										HNSCC(63;0.18)			18	29					9.16793e-09	2.3394e-08	0.004990	1	0
GPC3	2719	broad.mit.edu	37	X	132888182	132888182	+	Missense_Mutation	SNP	C	C	T	rs148021273	byFrequency	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:132888182C>T	ENST00000370818.3	-	3	804	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GPC3_ENST00000394299.2_Missense_Mutation_p.R120H|GPC3_ENST00000543339.1_Missense_Mutation_p.R66H	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	120						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTTGGCATGGCGAACAACAAT	0.363000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				7	72					0	0	0.001984	0	0
ANKRD36	375248	broad.mit.edu	37	2	97808556	97808556	+	Silent	SNP	A	A	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:97808556A>G	ENST00000420699.2	+	8	1129	c.885A>G	c.(883-885)ggA>ggG	p.G295G	ANKRD36_ENST00000461153.2_Silent_p.G295G	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	295										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TAAAGGATGGACAAAAATCTG	0.348000													2	3					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9048921	9048921	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:9048921C>T	ENST00000397910.4	-	5	32913	c.32710G>A	c.(32710-32712)Gag>Aag	p.E10904K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10906	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGTGGTCTCTGGTTCACCA	0.502000													14	65					0	0	0.003163	0	0
PAK2	5062	broad.mit.edu	37	3	196529909	196529909	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:196529909C>G	ENST00000327134.3	+	4	632	c.310C>G	c.(310-312)Cga>Gga	p.R104G		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	104	Autoregulatory region (By similarity).|GTPase-binding (By similarity).				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ACAGTGGGCTCGATTACTACA	0.378000													4	90					0	0	0.000248	0	0
PABPC5	140886	broad.mit.edu	37	X	90690579	90690579	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:90690579G>A	ENST00000312600.3	+	2	217	c.3G>A	c.(1-3)atG>atA	p.M1I	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	1						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCAGAGAGATGGGGAGCGGGG	0.512000													10	6					0	0	0.006214	0	0
DNAH9	1770	broad.mit.edu	37	17	11511572	11511572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:11511572G>A	ENST00000262442.3	+	2	612	c.544G>A	c.(544-546)Gga>Aga	p.G182R	DNAH9_ENST00000579828.1_Missense_Mutation_p.G182R|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.G182R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	182	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAAGTGAAGGGAAAAACTTT	0.512000													10	118					0	0	0.008291	0	0
PSG6	5675	broad.mit.edu	37	19	43414874	43414874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:43414874C>T	ENST00000187910.2	-	3	629	c.564G>A	c.(562-564)atG>atA	p.M188I	PSG6_ENST00000402603.4_Missense_Mutation_p.M188I|PSG6_ENST00000292125.2_Missense_Mutation_p.M188I	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACCTGTGAGTCATAGGGAGGT	0.493000													86	145					0	0	0.003610	0	0
ASPM	259266	broad.mit.edu	37	1	197115445	197115445	+	Silent	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:197115445G>C	ENST00000367409.4	-	1	379	c.123C>G	c.(121-123)ctC>ctG	p.L41L	ASPM_ENST00000294732.7_Silent_p.L41L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	41					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGAAGTGGCTGAGAGACAGGA	0.692000													10	50					0	0	0.006214	0	0
HPS6	79803	broad.mit.edu	37	10	103826369	103826369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:103826369G>A	ENST00000299238.5	+	1	1223	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	380						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCTGCTTTCAGCCTTGGGTCT	0.582000									Hermansky-Pudlak syndrome				5	39					0	0	0.000602	0	0
THOC2	57187	broad.mit.edu	37	X	122767908	122767908	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:122767908T>C	ENST00000245838.8	-	20	2063	c.2032A>G	c.(2032-2034)Ata>Gta	p.I678V	THOC2_ENST00000355725.4_Missense_Mutation_p.I678V|THOC2_ENST00000491737.1_Missense_Mutation_p.I563V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	678					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCTTTCAATATAAGCAGGTCA	0.323000													11	49					0	0	0.008291	0	0
MYO16	23026	broad.mit.edu	37	13	109318469	109318469	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr13:109318469C>T	ENST00000356711.2	+	2	324	c.198C>T	c.(196-198)gaC>gaT	p.D66D	MYO16_ENST00000251041.5_Silent_p.D66D|MYO16_ENST00000357550.2_Silent_p.D66D	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	66					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCTACAGGACGCGATTATCC	0.428000													4	16					0	0	0.000248	0	0
SBNO1	55206	broad.mit.edu	37	12	123812541	123812541	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:123812541A>C	ENST00000420886.2	-	10	1329	c.1330T>G	c.(1330-1332)Tta>Gta	p.L444V	SBNO1_ENST00000267176.4_Missense_Mutation_p.L443V|SBNO1_ENST00000602398.1_Missense_Mutation_p.L444V|SBNO1_ENST00000602750.1_Missense_Mutation_p.L443V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	444							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACAGGACATAAGTTTTTGGCT	0.368000													14	70					0	0	0.003163	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1													p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													2	11					0	0	0.004672	0	0
FBN2	2201	broad.mit.edu	37	5	127595501	127595501	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:127595501C>T	ENST00000508053.1	-	71	9359	c.8385G>A	c.(8383-8385)gaG>gaA	p.E2795E	FBN2_ENST00000262464.4_Silent_p.E2795E			P35556	FBN2_HUMAN	fibrillin 2	2795					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTCGACACTCTCTAGGCTGA	0.537000													11	68					0	0	0.000978	0	0
BLM	641	broad.mit.edu	37	15	91312807	91312807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr15:91312807G>C	ENST00000355112.3	+	12	2664	c.2546G>C	c.(2545-2547)aGa>aCa	p.R849T	BLM_ENST00000560509.1_Missense_Mutation_p.R849T|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	849	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAGATTCTCAGACCTCAGGTG	0.517000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				4	27					0	0	0.000248	0	0
MMP14	4323	broad.mit.edu	37	14	23313687	23313687	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:23313687G>C	ENST00000311852.6	+	7	1380	c.1119G>C	c.(1117-1119)gaG>gaC	p.E373D	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	373	Hemopexin-like 2.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CTGCCTACGAGAGGAAGGATG	0.537000													15	170					0	0	0.004007	0	0
FBXO18	84893	broad.mit.edu	37	10	5948405	5948405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:5948405G>A	ENST00000379999.5	+	4	820	c.716G>A	c.(715-717)gGt>gAt	p.G239D	FBXO18_ENST00000362091.4_Missense_Mutation_p.G188D|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	188					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGGGACGTGGGTCCTGATCCC	0.587000													5	19					0	0	0.000602	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448632	110448632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr8:110448632G>T	ENST00000378402.5	+	30	3675	c.3571G>T	c.(3571-3573)Gaa>Taa	p.E1191*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1191	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTGGAAATGAAACCTGCAA	0.358000										HNSCC(38;0.096)			22	36					7.41877e-09	1.90953e-08	0.001882	1	0
SLC27A5	10998	broad.mit.edu	37	19	59011756	59011756	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:59011756G>T	ENST00000263093.2	-	6	1527	c.1418C>A	c.(1417-1419)gCg>gAg	p.A473E	SLC27A5_ENST00000601355.1_Missense_Mutation_p.A389E	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	473					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGCTCCGCCGCCTCCATGTC	0.627000													10	48					1.05317e-09	2.73455e-09	0.002450	1	0
MYO5B	4645	broad.mit.edu	37	18	47373592	47373592	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr18:47373592C>T	ENST00000285039.7	-	33	4682	c.4383G>A	c.(4381-4383)cgG>cgA	p.R1461R	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.R31R|MYO5B_ENST00000324581.6_Silent_p.R576R	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1461					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTCTCTTTCCGCTGGACCG	0.572000													8	26					0	0	0.003080	0	0
MSLN	10232	broad.mit.edu	37	16	816458	816458	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:816458G>C	ENST00000566549.1	+	12	1615	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	MSLN_ENST00000563941.1_Missense_Mutation_p.E400Q|MSLN_ENST00000545450.2_Missense_Mutation_p.E400Q|MSLN_ENST00000382862.3_Missense_Mutation_p.E400Q			Q13421	MSLN_HUMAN	mesothelin	400					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCTTTGCTTGAAGTCAACAA	0.572000													10	62					0	0	0.008291	0	0
FGD1	2245	broad.mit.edu	37	X	54497839	54497839	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:54497839G>A	ENST00000375135.3	-	2	1122	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	130	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGCCGCTGGGGACCTTCTGG	0.607000													4	14					0	0	0.000602	0	0
DHODH	1723	broad.mit.edu	37	16	72046004	72046004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:72046004C>A	ENST00000572887.1	+	2	254	c.77C>A	c.(76-78)tCc>tAc	p.S26Y	DHODH_ENST00000219240.4_Missense_Mutation_p.S26Y			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	26					'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)	CTCTTCGCCTCCTACCTGATG	0.602000													16	105					1.3612e-06	3.41454e-06	0.003163	1	0
TLE4	7091	broad.mit.edu	37	9	82334979	82334979	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:82334979C>T	ENST00000376520.4	+	17	2533	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	TLE4_ENST00000265284.6_Missense_Mutation_p.R512C|TLE4_ENST00000376534.4_Missense_Mutation_p.R174C|TLE4_ENST00000376552.2_Missense_Mutation_p.R537C|TLE4_ENST00000376537.4_Missense_Mutation_p.R569C|TLE4_ENST00000376544.3_Missense_Mutation_p.R468C			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TAACTACATCCGTTCCTGCAG	0.463000													8	42					0	0	0.004482	0	0
CCDC19	25790	broad.mit.edu	37	1	159857775	159857775	+	Silent	SNP	G	G	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:159857775G>T	ENST00000426543.2	-	5	644	c.189C>A	c.(187-189)atC>atA	p.I63I	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.I148I			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	148						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGTTTCATGATCTTCTTTC	0.542000													29	54					1.55811e-20	4.15496e-20	0.008361	1	0
WAPAL	23063	broad.mit.edu	37	10	88259533	88259533	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:88259533C>T	ENST00000298767.5	-	3	1939	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	489	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTGGGGGAGGCTGCAAGGAGG	0.383000													18	63					0	0	0.008871	0	0
ALOX12	239	broad.mit.edu	37	17	6909233	6909233	+	Silent	SNP	G	G	A	rs114312186	byFrequency	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:6909233G>A	ENST00000251535.6	+	10	1358	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	435	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CGGCAGCTCAGCTGACCTACT	0.632000													3	27					0	0	0.000602	0	0
BTG3	10950	broad.mit.edu	37	21	18981460	18981460	+	Translation_Start_Site	SNP	C	C	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr21:18981460C>A	ENST00000339775.6	-	2	156	c.3G>T	c.(1-3)atG>atT	p.M1I	BTG3_ENST00000348354.6_Start_Codon_SNP_p.M1I|BTG3_ENST00000464058.1_5'UTR	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	1					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCATTCTTCATTTTTTTCC	0.348000													33	35					5.8336e-16	1.54174e-15	0.003271	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058810	152058810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:152058810C>T	ENST00000368806.1	-	3	1412	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	450							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTCCTCCTTCTGAGCTTAGA	0.448000													18	192					0	0	0.004990	0	0
CNP	1267	broad.mit.edu	37	17	40125676	40125676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:40125676G>A	ENST00000393892.2	+	4	1144	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	CNP_ENST00000591072.1_Missense_Mutation_p.G99S|CNP_ENST00000472031.1_3'UTR|CNP_ENST00000393888.1_Missense_Mutation_p.G314S	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	334					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CATCACCCTCGGCTGTGCAGC	0.647000													7	38					0	0	0.001984	0	0
COL5A2	1290	broad.mit.edu	37	2	189898825	189898825	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:189898825C>T	ENST00000374866.3	-	54	4745	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1491	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAATTTCAACGCCGAATTCC	0.473000													7	51					0	0	0.001984	0	0
TAF5	6877	broad.mit.edu	37	10	105133180	105133180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:105133180G>A	ENST00000369839.3	+	2	648	c.625G>A	c.(625-627)Gga>Aga	p.G209R	TAF5_ENST00000351396.4_Missense_Mutation_p.G209R	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	209					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CAACCAACAAGGAGATCCCAC	0.413000													8	87					0	0	0.004482	0	0
CCDC171	203238	broad.mit.edu	37	9	15920346	15920346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:15920346C>T	ENST00000380701.3	+	25	4007	c.3679C>T	c.(3679-3681)Cat>Tat	p.H1227Y	CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1227																	AATGACATCTCATCGAAGTCA	0.343000													11	30					0	0	0.001368	0	0
SETD6	79918	broad.mit.edu	37	16	58550236	58550236	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:58550236C>T	ENST00000394266.4	+	4	449	c.393C>T	c.(391-393)caC>caT	p.H131H	SETD6_ENST00000219315.4_Silent_p.H155H|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Silent_p.H131H			Q8TBK2	SETD6_HUMAN	SET domain containing 6	155	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GCTTGGAGCACCCGATGTTCT	0.672000													5	34					0	0	0.000602	0	0
LILRA5	353514	broad.mit.edu	37	19	54823872	54823872	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:54823872G>C	ENST00000301219.3	-	2	142	c.23C>G	c.(22-24)tCt>tGt	p.S8C	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.S8C|LILRA5_ENST00000346508.3_Missense_Mutation_p.S8C|LILRA5_ENST00000432233.3_Missense_Mutation_p.S8C	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	8					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCTGTGCAGATGGATGAGA	0.597000													5	40					0	0	0.000602	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573702	136573702	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:136573702C>G	ENST00000446465.2	+	2	1028	c.400C>G	c.(400-402)Cta>Gta	p.L134V	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.L134V|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	134	DUF6 1.					Golgi apparatus|integral to membrane											AGTTCCATCTCTAGAACTGAT	0.428000													31	226					0	0	0.001786	0	0
NCKAP1	10787	broad.mit.edu	37	2	183790481	183790481	+	Silent	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:183790481C>G	ENST00000360982.2	-	32	4112	c.3354G>C	c.(3352-3354)ctG>ctC	p.L1118L	NCKAP1_ENST00000361354.3_Silent_p.L1112L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1112					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGCATTTCTCAGCAAGACAT	0.323000													7	78					0	0	0.001984	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800736	185800736	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:185800736C>A	ENST00000302277.6	+	4	1207	c.613C>A	c.(613-615)Cag>Aag	p.Q205K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	205						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGATCAAGCCCAGGGGATTCA	0.418000													23	56					1.96895e-08	4.98127e-08	0.002780	1	0
CMTR2	55783	broad.mit.edu	37	16	71318560	71318560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:71318560T>A	ENST00000338099.5	-	3	1600	c.1264A>T	c.(1264-1266)Aaa>Taa	p.K422*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.K422*			Q8IYT2	FTSJ1_HUMAN		422						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATACTAGATTTTTTTACTAGC	0.299000													7	62					0	0	0.001984	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321541	79321541	+	Silent	SNP	A	A	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:79321541A>G	ENST00000428286.1	-	8	5772	c.4572T>C	c.(4570-4572)taT>taC	p.Y1524Y	PRUNE2_ENST00000376718.3_Silent_p.Y1883Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1883					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGGATTAGTATAGTGTGTTT	0.473000													17	14					0	0	0.004990	0	0
FTL	2512	broad.mit.edu	37	19	49468783	49468783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:49468783C>T	ENST00000331825.6	+	1	226	c.19C>T	c.(19-21)Cag>Tag	p.Q7*		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	7	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	CCAGATTCGTCAGAATTATTC	0.567000													69	52					0	0	0.003610	0	0
EIF6	3692	broad.mit.edu	37	20	33872130	33872130	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr20:33872130T>G	ENST00000374443.3	-	2	210	c.161A>C	c.(160-162)aAg>aCg	p.K54T	EIF6_ENST00000374436.3_Intron|EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374450.3_Intron	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	57					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCGGAGCTCTTGACTCCTGC	0.667000													25	50					0	0	0.002780	0	0
BRAP	8315	broad.mit.edu	37	12	112082288	112082288	+	Silent	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:112082288T>C	ENST00000419234.4	-	12	1687	c.1494A>G	c.(1492-1494)cgA>cgG	p.R498R	BRAP_ENST00000539060.1_Silent_p.R319R|BRAP_ENST00000327551.6_Silent_p.R468R	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	498					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CTTGGTTGGCTCGCAAACACT	0.483000													20	78					0	0	0.008871	0	0
CDT1	81620	broad.mit.edu	37	16	88873832	88873832	+	Silent	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:88873832C>G	ENST00000301019.4	+	9	2038	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	473					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGCCTGCGCTCAGCATGGAGG	0.657000													5	47					0	0	0.001168	0	0
VPS13A	23230	broad.mit.edu	37	9	79975558	79975558	+	Splice_Site	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:79975558G>A	ENST00000360280.3	+	59	8471		c.e59+1		VPS13A_ENST00000357409.5_Splice_Site|VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAATACAGAGGTAAGACTTAA	0.284000													7	140					0	0	0.003080	0	0
CD163L1	283316	broad.mit.edu	37	12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:7559320C>T	ENST00000313599.3	-	5	952	c.895G>A	c.(895-897)Gta>Ata	p.V299I	CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I|CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	299	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522000													22	55					0	0	0.001882	0	0
CDC73	79577	broad.mit.edu	37	1	193104562	193104562	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:193104562G>A	ENST00000367435.3	+	4	533	c.349G>A	c.(349-351)Ggt>Agt	p.G117S		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	117					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CTTAGAAATAGGTCTTCAGCG	0.333000													23	42					0	0	0.003954	0	0
PCDH10	57575	broad.mit.edu	37	4	134072862	134072862	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:134072862G>A	ENST00000264360.4	+	1	2393	c.1567G>A	c.(1567-1569)Ggc>Agc	p.G523S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	523	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G523R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCTGAGAACGGCTACTTGTA	0.602000													17	68					0	0	0.006122	0	0
RPLP0	6175	broad.mit.edu	37	12	120636708	120636708	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:120636708G>C	ENST00000551150.1	-	4	729	c.414C>G	c.(412-414)ttC>ttG	p.F138L	RPLP0_ENST00000313104.5_Missense_Mutation_p.F138L|RPLP0_ENST00000546989.1_Missense_Mutation_p.F138L|RPLP0_ENST00000228306.4_Missense_Mutation_p.F138L|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000392514.4_Missense_Mutation_p.F138L			P05388	RLA0_HUMAN	ribosomal protein, large, P0	138					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAAAGCCTGGAAAAAGGAGG	0.567000													6	18					0	0	0.001168	0	0
HECTD1	25831	broad.mit.edu	37	14	31619322	31619322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:31619322C>T	ENST00000399332.1	-	13	2526	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N	HECTD1_ENST00000553700.1_Missense_Mutation_p.D680N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	680					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)		GCTGCTGCATCACTCCAAATA	0.418000													19	147					0	0	0.008871	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140856119	140856119	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:140856119G>A	ENST00000308177.3	+	1	540	c.436G>A	c.(436-438)Gag>Aag	p.E146K	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGATTAGCGAGGCCGTGGC	0.547000													7	44					0	0	0.001984	0	0
PLAC1	10761	broad.mit.edu	37	X	133700419	133700419	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:133700419T>C	ENST00000359237.4	-	3	579	c.294A>G	c.(292-294)atA>atG	p.I98M	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	98					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AAGAGTAGTGTATCTCAGTGC	0.522000													80	22					0	0	0.003610	0	0
MAGI3	260425	broad.mit.edu	37	1	114184803	114184803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:114184803C>T	ENST00000369615.1	+	10	1693	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	MAGI3_ENST00000369617.4_Missense_Mutation_p.S569L|MAGI3_ENST00000307546.9_Missense_Mutation_p.S544L|MAGI3_ENST00000369611.4_Missense_Mutation_p.S544L	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	569					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGGAAAATCGGGACACACT	0.493000													28	79					0	0	0.008361	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785285	26785285	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:26785285A>T	ENST00000376236.4	+	4	580	c.125A>T	c.(124-126)gAa>gTa	p.E42V	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42V	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	42					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCCAGAGCTGAATTTAACTAC	0.343000													18	56					0	0	0.006122	0	0
GRID1	2894	broad.mit.edu	37	10	87614310	87614310	+	Silent	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:87614310G>C	ENST00000327946.7	-	8	1261	c.1176C>G	c.(1174-1176)gtC>gtG	p.V392V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	392						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTTCAAACTGGACATAGGGAT	0.498000										Multiple Myeloma(13;0.14)			10	34					0	0	0.000978	0	0
SELE	6401	broad.mit.edu	37	1	169701064	169701064	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:169701064G>A	ENST00000333360.7	-	4	580	c.441C>T	c.(439-441)tcC>tcT	p.S147S	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Silent_p.S147S|SELE_ENST00000367782.4_Silent_p.S147S|SELE_ENST00000367780.4_Silent_p.S147S|SELE_ENST00000367779.4_Silent_p.S147S|SELE_ENST00000367777.1_Silent_p.S147S|SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367781.4_Silent_p.S147S|SELE_ENST00000367775.1_Silent_p.S147S|SELE_ENST00000367776.1_Silent_p.S147S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	147	EGF-like.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGCCACTGCAGGATGTATTGG	0.438000													11	20					0	0	0.000978	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957032	73957032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:73957032G>C	ENST00000358602.4	-	29	6429	c.6313C>G	c.(6313-6315)Cat>Gat	p.H2105D	ANKRD17_ENST00000509867.2_Missense_Mutation_p.H1992D|ANKRD17_ENST00000330838.6_Missense_Mutation_p.H1854D	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2105	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATTAGAATGAGCTGATGAA	0.498000													11	124					0	0	0.008291	0	0
STX18	53407	broad.mit.edu	37	4	4426946	4426946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:4426946C>T	ENST00000306200.2	-	8	769	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	STX18_ENST00000505286.1_Missense_Mutation_p.E236K	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	236					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTTTCCTGTTCAAACTGTGAG	0.448000													5	33					0	0	0.001984	0	0
CHERP	10523	broad.mit.edu	37	19	16629998	16629998	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:16629998C>G	ENST00000546361.2	-	17	2874	c.2723G>C	c.(2722-2724)cGc>cCc	p.R908P	CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_3'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.R919P|C19orf44_ENST00000221671.3_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	908					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGCCTTCATGCGGGCGATGAA	0.637000													3	13					0	0	0.004672	0	0
MDGA2	161357	broad.mit.edu	37	14	47530684	47530684	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:47530684T>A	ENST00000426342.1	-	7	1145	c.399A>T	c.(397-399)gaA>gaT	p.E133D	MDGA2_ENST00000439988.2_Missense_Mutation_p.E362D|MDGA2_ENST00000399232.2_Missense_Mutation_p.E431D|MDGA2_ENST00000357362.3_Missense_Mutation_p.E133D	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	362					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAGGAACAGCTTCTACTTGGC	0.403000													40	64					0	0	0.005524	0	0
PRG4	10216	broad.mit.edu	37	1	186273956	186273956	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:186273956C>G	ENST00000445192.2	+	6	545	c.500C>G	c.(499-501)tCc>tGc	p.S167C	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.S126C|PRG4_ENST00000367484.3_Missense_Mutation_p.S126C	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	167	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGAGtcctcctcctcctcc	0.353000													4	40					0	0	0.000248	0	0
APBB1	322	broad.mit.edu	37	11	6425033	6425033	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr11:6425033G>A	ENST00000533407.1	-	0	106				APBB1_ENST00000389906.2_Silent_p.N247N|APBB1_ENST00000311051.3_Silent_p.N247N|APBB1_ENST00000299402.6_Silent_p.N247N|APBB1_ENST00000530885.1_Silent_p.N27N	NM_001257322.1|NM_001257324.1	NP_001244251.1|NP_001244253.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCTCGAAGGCGTTGGGGTTCC	0.617000													17	14					0	0	0.004990	0	0
MTUS2	23281	broad.mit.edu	37	13	29599504	29599504	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr13:29599504C>T	ENST00000431530.3	+	1	757	c.699C>T	c.(697-699)caC>caT	p.H233H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	223						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCCAGACCACGCTGTCCCGG	0.587000													6	9					0	0	0.001168	0	0
CDHR2	54825	broad.mit.edu	37	5	176011455	176011455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:176011455G>A	ENST00000510636.1	+	19	2447	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	CDHR2_ENST00000261944.5_Missense_Mutation_p.E725K|CDHR2_ENST00000506348.1_Missense_Mutation_p.E725K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	725	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGACCAGACGGAAGCCAACAA	0.637000													10	78					0	0	0.006214	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837316	12837316	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:12837316G>A	ENST00000357726.4	+	3	1053	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	342								p.L342L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAGTTCTGCTGGAGCAAG	0.587000													16	55					0	0	0.003163	0	0
THAP5	168451	broad.mit.edu	37	7	108204640	108204640	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr7:108204640T>A	ENST00000415914.3	-	3	1336	c.1183A>T	c.(1183-1185)Ata>Tta	p.I395L	THAP5_ENST00000313516.5_Missense_Mutation_p.I353L	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	395					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTATTCTATATCATAGTGACT	0.328000													14	22					0	0	0.001855	0	0
F12	2161	broad.mit.edu	37	5	176829658	176829658	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:176829658G>A	ENST00000253496.3	-	13	1621	c.1573C>T	c.(1573-1575)Ccg>Tcg	p.P525S	F12_ENST00000514943.1_5'UTR	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	525	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_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)			GAGAGGAACGGTACCTGCGCC	0.662000									Hereditary Angioedema				7	23					0	0	0.004482	0	0
OR2M3	127062	broad.mit.edu	37	1	248366902	248366902	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:248366902T>C	ENST00000456743.1	+	1	571	c.533T>C	c.(532-534)tTc>tCc	p.F178S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCCACTTCTTCTGTGACTTC	0.423000													38	182					0	0	0.006999	0	0
GALNT8	26290	broad.mit.edu	37	12	4855415	4855415	+	Silent	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:4855415T>C	ENST00000252318.2	+	6	1501	c.1164T>C	c.(1162-1164)ctT>ctC	p.L388L		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	388	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACGTGGAGCTTAGCCTGAGGG	0.498000													4	45					0	0	0.000602	0	0
BAZ1A	11177	broad.mit.edu	37	14	35343736	35343736	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:35343736G>C	ENST00000360310.1	-	2	642	c.75C>G	c.(73-75)ttC>ttG	p.F25L	RP11-73E17.2_ENST00000557373.1_RNA|BAZ1A_ENST00000382422.2_Missense_Mutation_p.F25L|BAZ1A_ENST00000358716.4_Missense_Mutation_p.F25L	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	25	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTTTACAGTAGAAAACTTCCT	0.667000													4	58					0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61900111	61900111	+	Splice_Site	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:61900111C>G	ENST00000355288.2	-	1	663	c.16_splice	c.e1+1	p.Q5_splice	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000460468.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000280772.1_Intron	NM_001149.3	NP_001140.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	871					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGATCTTACTCTGCGGTAAAG	0.388000													19	82					0	0	0.002299	0	0
TP53	7157	broad.mit.edu	37	17	7578532	7578532	+	Missense_Mutation	SNP	A	A	T	rs28934873		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:7578532A>T	ENST00000420246.2	-	5	530	c.398T>A	c.(397-399)aTg>aAg	p.M133K	TP53_ENST00000445888.2_Missense_Mutation_p.M133K|TP53_ENST00000413465.2_Missense_Mutation_p.M133K|TP53_ENST00000269305.4_Missense_Mutation_p.M133K|TP53_ENST00000455263.2_Missense_Mutation_p.M133K|TP53_ENST00000359597.4_Missense_Mutation_p.M133K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	133	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		KM -> NL (in a sporadic cancer; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934873).|M -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M133K(12)|p.0?(8)|p.M133R(5)|p.N131fs*27(2)|p.M133T(2)|p.V73fs*9(1)|p.M133fs*37(1)|p.S127fs*36(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*13(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)		TTGGCAAAACATCTTGTTGAG	0.562000		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)			18	12					0	0	0.006122	0	0
DUOX1	53905	broad.mit.edu	37	15	45437213	45437213	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr15:45437213G>T	ENST00000321429.4	+	19	2664	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	DUOX1_ENST00000389037.3_Missense_Mutation_p.A753S|DUOX1_ENST00000561166.1_Missense_Mutation_p.A399S	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	753					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCTGATGAGAGCAGCTGTGAC	0.592000													7	61					5.18039e-06	1.28857e-05	0.003080	1	0
STX8	9482	broad.mit.edu	37	17	9448488	9448488	+	Splice_Site	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:9448488C>T	ENST00000306357.3	-	4	751		c.e4+1		STX8_ENST00000574431.1_Splice_Site	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						AAACATCCTACCTGATTAGAT	0.418000													5	36					0	0	0.000602	0	0
PARD3	56288	broad.mit.edu	37	10	34408630	34408630	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:34408630C>T	ENST00000374789.3	-	24	3913	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	PARD3_ENST00000374788.3_Silent_p.S1193S|PARD3_ENST00000374790.3_Silent_p.S1136S|PARD3_ENST00000545260.1_Silent_p.S1106S|PARD3_ENST00000350537.4_Silent_p.S1150S|PARD3_ENST00000374794.3_Silent_p.S1084S|PARD3_ENST00000346874.4_Silent_p.S1159S|PARD3_ENST00000545693.1_Silent_p.S1180S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1196					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCACGGACACCGAGTGTCGCC	0.617000													5	11					0	0	0.000602	0	0
NMT1	4836	broad.mit.edu	37	17	43175850	43175850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:43175850C>T	ENST00000592782.1	+	8	945	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	NMT1_ENST00000258960.2_Missense_Mutation_p.H272Y			P30419	NMT1_HUMAN	N-myristoyltransferase 1	272					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CAGGCGGGTTCACCTGGAGGG	0.527000													11	100					0	0	0.008291	0	0
GSTA1	2938	broad.mit.edu	37	6	52662432	52662432	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr6:52662432C>T	ENST00000334575.5	-	3	246	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	31	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	AATTTCTCTTCAAACTGGAAG	0.368000													6	43					0	0	0.001168	0	0
MECOM	2122	broad.mit.edu	37	3	168838959	168838959	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:168838959G>A	ENST00000464456.1	-	6	1653	c.453C>T	c.(451-453)cgC>cgT	p.R151R	MECOM_ENST00000472280.1_Silent_p.R152R|MECOM_ENST00000468789.1_Silent_p.R151R|MECOM_ENST00000460814.1_Silent_p.R151R|MECOM_ENST00000433243.2_Silent_p.R152R|MECOM_ENST00000264674.3_Silent_p.R216R|MECOM_ENST00000392736.3_Silent_p.R151R|MECOM_ENST00000494292.1_Silent_p.R339R	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATGCTGAGAGCGAATGTGCC	0.517000													39	22					0	0	0.008740	0	0
THEM4	117145	broad.mit.edu	37	1	151867562	151867562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:151867562C>T	ENST00000368814.3	-	2	557	c.208G>A	c.(208-210)Gac>Aac	p.D70N	THEM4_ENST00000489410.1_Missense_Mutation_p.D70N	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	70					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGAGCCGTCTTCACATTTC	0.433000													4	89					0	0	0.000248	0	0
ZNF844	284391	broad.mit.edu	37	19	12187210	12187210	+	Silent	SNP	A	A	G	rs6511764	by1000genomes	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:12187210A>G	ENST00000439326.3	+	4	1450	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428000													3	36					0	0	0.004672	0	0
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcc>gc	p.AA13del		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													2	4	---	---	---	---					
PEX2	5828	broad.mit.edu	37	8	77895656	77895657	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr8:77895656_77895657insA	ENST00000419564.2	-	4	1222_1223	c.758_759insT	c.(757-759)accfs	p.T253fs	PEX2_ENST00000522527.1_Frame_Shift_Ins_p.T253fs|PEX2_ENST00000520103.1_Frame_Shift_Ins_p.T253fs|PEX2_ENST00000357039.4_Frame_Shift_Ins_p.T253fs	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	253					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TGGTGTGAGGCATGGTGGGCCA	0.436													51	72	---	---	---	---					
RIPK4	54101	broad.mit.edu	37	21	43161792	43161803	+	In_Frame_Del	DEL	GTGTGCTAGACT	GTGTGCTAGACT	-	rs148559295		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr21:43161792_43161803delGTGTGCTAGACT	ENST00000352483.2	-	9	1758_1769	c.1694_1705delAGTCTAGCACAC	c.(1693-1707)ggg>g	p.ESSTR565del	RIPK4_ENST00000542057.1_In_Frame_Del_p.ESSTR454del|RIPK4_ENST00000544709.1_In_Frame_Del_p.ESSTR454del|RIPK4_ENST00000332512.3_In_Frame_Del_p.ESSTR517del			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	517						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AACAGCAGCCGTGTGCTAGACTCGTCCCCGTT	0.632													12	27	---	---	---	---