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
SLIT1	6585	broad.mit.edu	37	10	98819903	98819903	+	Silent	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr10:98819903C>T	ENST00000266058.4	-	10	1199	c.954G>A	c.(952-954)ctG>ctA	p.L318L	SLIT1_ENST00000371041.3_Silent_p.L318L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.L318L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	318					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGATGCCGTTCAGCTCCAGGC	0.607000													14	10					0	0	1	0	0
MPLKIP	136647	broad.mit.edu	37	7	40172762	40172762	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr7:40172762C>G	ENST00000306984.6	-	2	527	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q		NM_138701.3	NP_619646.1	Q8TAP9	TTDN1_HUMAN	M-phase specific PLK1 interacting protein						cell division|mitosis	microtubule organizing center|nucleus											CAAGGATCTTCAAGCATTGAA	0.393000													40	58					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85488019	85488019	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:85488019C>G	ENST00000370589.2	-	10	1212	c.1160G>C	c.(1159-1161)gGa>gCa	p.G387A	MCOLN3_ENST00000341115.4_Missense_Mutation_p.G331A|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	387						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TCGGATGACTCCAAGCCACAC	0.403000													16	41					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514498	161514498	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:161514498G>C	ENST00000367969.3	-	4	861	c.678C>G	c.(676-678)atC>atG	p.I226M	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.I225M|FCGR3A_ENST00000436743.1_Missense_Mutation_p.I190M|FCGR3A_ENST00000540048.1_Missense_Mutation_p.I190M	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	190					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTTGAGTGATGGTGATGT	0.502000													24	24					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48648020	48648020	+	Silent	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr8:48648020C>T	ENST00000518074.1	+	19	2748	c.2577C>T	c.(2575-2577)gcC>gcT	p.A859A	SPIDR_ENST00000541342.1_3'UTR|SPIDR_ENST00000517693.1_3'UTR|SPIDR_ENST00000297423.4_3'UTR|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518060.1_3'UTR	NM_001282919.1	NP_001269848.1			scaffolding protein involved in DNA repair																		TAGCGGTTGCCGCAGGATCTG	0.522000													13	29					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50277565	50277565	+	Silent	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr22:50277565G>A	ENST00000216268.5	+	2	732	c.255G>A	c.(253-255)gcG>gcA	p.A85A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.A85A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACTATGGCGCGCTGTTCTCCC	0.627000													20	16					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124951214	124951214	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr3:124951214C>T	ENST00000360647.4	-	9	2841	c.2356G>A	c.(2356-2358)Gat>Aat	p.D786N	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.D786N|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.D786N|ZNF148_ENST00000485866.1_Missense_Mutation_p.D786N|ZNF148_ENST00000468369.1_Missense_Mutation_p.D136N|ZNF148_ENST00000544464.1_Missense_Mutation_p.D123N	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	786					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GTTGTGGCATCAGGTGAAGAT	0.403000													16	39					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39495994	39495994	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr8:39495994C>T	ENST00000265707.5	+	10	883	c.838C>T	c.(838-840)Cat>Tat	p.H280Y	ADAM18_ENST00000379866.1_Missense_Mutation_p.H256Y|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	280	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTACAGGAAACATCCTAAATA	0.274000													21	26					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236204	118236204	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr10:118236204G>A	ENST00000369230.3	+	11	1359	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	405	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAAATTAATCGATGCAGATGT	0.363000													20	23					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690695	33690695	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:33690695C>G	ENST00000394566.1	-	4	404	c.132G>C	c.(130-132)gaG>gaC	p.E44D	SLFN11_ENST00000308377.4_Missense_Mutation_p.E44D	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	44						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCATAACTCTCTCCTTCTCTT	0.458000													29	58					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38156628	38156628	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr13:38156628G>A	ENST00000379747.4	-	10	1384	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	POSTN_ENST00000379742.4_Missense_Mutation_p.R423C|POSTN_ENST00000379749.4_Missense_Mutation_p.R423C|POSTN_ENST00000541179.1_Missense_Mutation_p.R423C|POSTN_ENST00000541481.1_Missense_Mutation_p.R423C|POSTN_ENST00000379743.4_Missense_Mutation_p.R423C	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	423	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTAAGGAGGCGCTGATCCATG	0.353000													43	32					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42569520	42569520	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:42569520C>G	ENST00000262895.3	-	2	98	c.99G>C	c.(97-99)caG>caC	p.Q33H	GRIK5_ENST00000301218.4_Missense_Mutation_p.Q33H|GRIK5_ENST00000593562.1_Missense_Mutation_p.Q33H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	33						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CACACACTGTCTGATCATCCA	0.612000													9	21					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48177889	48177889	+	Silent	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr16:48177889C>T	ENST00000311303.3	-	2	552	c.207G>A	c.(205-207)cgG>cgA	p.R69R	ABCC12_ENST00000448542.1_Silent_p.R69R|ABCC12_ENST00000416054.1_Silent_p.R69R	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	69						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCAGCCTTTGCCGGTAGCCTT	0.537000													4	171					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38943512	38943512	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:38943512C>T	ENST00000355481.4	+	13	1429	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	RYR1_ENST00000360985.3_Missense_Mutation_p.T433M|RYR1_ENST00000359596.3_Missense_Mutation_p.T433M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	433					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGCTGGCACGGCGCTGCCC	0.657000													9	7					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134025976	134025976	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr8:134025976C>T	ENST00000220616.4	+	37	6569	c.6529C>T	c.(6529-6531)Cgt>Tgt	p.R2177C	TG_ENST00000377869.1_Missense_Mutation_p.R2120C|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.R547C|TG_ENST00000519543.1_Missense_Mutation_p.R310C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2177					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R2177C(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCTGCTTCGTGAAGAGGC	0.527000													10	17					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619878	77619878	+	Silent	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr8:77619878C>T	ENST00000521891.2	+	3	3136	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	ZFHX4_ENST00000050961.6_Silent_p.I870I|ZFHX4_ENST00000455469.2_Silent_p.I870I|ZFHX4_ENST00000518282.1_Silent_p.I870I|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	870						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCTTATATCAGTGACCCAG	0.522000										HNSCC(33;0.089)			10	25					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4125518	4125518	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr6:4125518A>G	ENST00000465828.1	-	7	956	c.671T>C	c.(670-672)cTt>cCt	p.L224P	C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.L224P|ECI2_ENST00000380118.3_Missense_Mutation_p.L254P|ECI2_ENST00000361538.2_Missense_Mutation_p.L224P|ECI2_ENST00000413766.2_Missense_Mutation_p.L87P|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000430835.2_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	254	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GAATAGCCCAAGGAGGGTGAC	0.502000													38	78					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155753807	155753807	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:155753807C>T	ENST00000437809.1	-	14	1984	c.1862G>A	c.(1861-1863)cGt>cAt	p.R621H	GON4L_ENST00000368331.1_Missense_Mutation_p.R621H|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.R621H|GON4L_ENST00000361040.5_Missense_Mutation_p.R621H	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	621					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAAGTTAGGACGAGGCTCAGC	0.448000													29	49					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885067	2885067	+	Silent	SNP	T	T	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr18:2885067T>C	ENST00000254528.3	+	3	522	c.363T>C	c.(361-363)ggT>ggC	p.G121G		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	121					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCCAAGAAGGTCCCAAAGACC	0.507000													19	28					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176008	112176008	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr5:112176008G>C	ENST00000457016.1	+	16	5097	c.4717G>C	c.(4717-4719)Gaa>Caa	p.E1573Q	APC_ENST00000257430.4_Missense_Mutation_p.E1573Q|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E1573Q			P25054	APC_HUMAN	adenomatous polyposis coli	1573	Asp/Glu-rich (acidic).|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1573fs*1(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGATGATATTGAAATACTAGA	0.373000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			22	39					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6472571	6472571	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr11:6472571T>C	ENST00000525074.1	-	8	2025	c.1631A>G	c.(1630-1632)aAt>aGt	p.N544S	TRIM3_ENST00000345851.3_Missense_Mutation_p.N544S|TRIM3_ENST00000537602.1_Missense_Mutation_p.N466S|TRIM3_ENST00000536344.1_Missense_Mutation_p.N425S|TRIM3_ENST00000359518.3_Missense_Mutation_p.N544S	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	544					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGTCTCCATTGGTGTCCAC	0.557000													25	53					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59142669	59142669	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:59142669C>T	ENST00000472487.1	-	9	1358	c.1319G>A	c.(1318-1320)tGt>tAt	p.C440Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	440	SWIRM.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AACATCTCCACAGTTCTTCAG	0.333000													26	56					0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8273444	8273444	+	Missense_Mutation	SNP	C	C	T	rs77907170		TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:8273444C>T	ENST00000396267.1	-	2	1072	c.241G>A	c.(241-243)Gat>Aat	p.D81N	RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.D163N|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	163	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						GAGATCACATCATATTTTGCT	0.368000													55	47					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314142	54314142	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:54314142C>G	ENST00000324134.6	-	3	939	c.771G>C	c.(769-771)caG>caC	p.Q257H	NLRP12_ENST00000345770.5_Missense_Mutation_p.Q257H|NLRP12_ENST00000354278.3_Missense_Mutation_p.Q257H|NLRP12_ENST00000351894.4_Missense_Mutation_p.Q257H|NLRP12_ENST00000391773.1_Missense_Mutation_p.Q257H|NLRP12_ENST00000391775.3_Missense_Mutation_p.Q257H|NLRP12_ENST00000391772.1_Missense_Mutation_p.Q257H|NLRP12_ENST00000535162.1_Missense_Mutation_p.Q257H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	257	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCGTGGCACTCTGGTTCATCT	0.572000													10	29					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56390076	56390076	+	Silent	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:56390076G>C	ENST00000355701.3	-	17	2976	c.2106C>G	c.(2104-2106)ctC>ctG	p.L702L	BZRAP1_ENST00000343736.4_Silent_p.L702L|BZRAP1_ENST00000268893.6_Silent_p.L642L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	702	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCATCCATGAGCTCTCCTG	0.537000													11	12					0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95360703	95360703	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr10:95360703C>T	ENST00000371467.1	-	2	402	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	RBP4_ENST00000371469.2_Missense_Mutation_p.R26Q|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.R28Q			P02753	RET4_HUMAN	retinol binding protein 4, plasma	28					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CTCCTTGACTCGGAAGCTGCT	0.716000													9	9					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8140075	8140075	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:8140075C>G	ENST00000600128.1	-	61	7997		c.e61-1		FBN3_ENST00000270509.2_Splice_Site|FBN3_ENST00000601739.1_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCATTCACATCTGAGACATAG	0.592000													16	23					0	0	1	0	0
KCNE4	23704	broad.mit.edu	37	2	223917899	223917899	+	Silent	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr2:223917899C>G	ENST00000281830.3	+	2	835	c.504C>G	c.(502-504)ctC>ctG	p.L168L	KCNE4_ENST00000604125.1_Silent_p.L117L|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	117						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTGCACCCTCTGTTCCATGG	0.657000													12	6					0	0	1	0	0
RPL23	9349	broad.mit.edu	37	17	37008912	37008912	+	Silent	SNP	C	C	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:37008912C>A	ENST00000479035.2	-	3	303	c.171G>T	c.(169-171)gtG>gtT	p.V57V	RPL23_ENST00000394332.1_Silent_p.V57V|RPL23_ENST00000394333.1_Silent_p.V57V|RPL23_ENST00000577407.1_Silent_p.V57V|RPL23_ENST00000245857.5_5'UTR	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	57					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						CCATGTCACCCACACCAGCAG	0.463000													28	39					1.39806e-14	1.50217e-14	1	1	0
SHC1	6464	broad.mit.edu	37	1	154936333	154936333	+	Silent	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:154936333G>A	ENST00000448116.2	-	12	1921	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	SHC1_ENST00000490667.1_5'UTR|SHC1_ENST00000606391.1_Silent_p.I367I|SHC1_ENST00000368449.4_Silent_p.I337I|SHC1_ENST00000368453.4_Silent_p.I457I|SHC1_ENST00000368450.1_Silent_p.I456I|SHC1_ENST00000368445.5_Silent_p.I566I	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	566	SH2.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGCAGAGATGATGGGCAAGT	0.532000													19	36					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64522743	64522743	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr14:64522743G>A	ENST00000358025.3	+	49	10056	c.9826G>A	c.(9826-9828)Gaa>Aaa	p.E3276K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E3309K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E3276K|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3276					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CACTTCCCTCGAAGCCATCAT	0.408000													21	41					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406642	50406642	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr20:50406642G>C	ENST00000217086.4	-	2	2491	c.2380C>G	c.(2380-2382)Caa>Gaa	p.Q794E	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	794					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTTCGGCTTGACTATTGGCC	0.537000													15	11					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117868900	117868900	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr8:117868900C>T	ENST00000297338.2	-	7	1086	c.799G>A	c.(799-801)Gat>Aat	p.D267N		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	267					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ACATTATCATCCTCATCCATA	0.423000													36	68					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720853	89720853	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr10:89720853G>C	ENST00000371953.3	+	8	2361	c.1004G>C	c.(1003-1005)cGa>cCa	p.R335P	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGCCAACCGATACTTTTCT	0.338000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			5	84					0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941231	111941231	+	Silent	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr11:111941231G>A	ENST00000530641.1	-	5	1067	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	PIH1D2_ENST00000532211.1_Silent_p.L248L|PIH1D2_ENST00000528775.1_Silent_p.L248L|PIH1D2_ENST00000280350.4_Silent_p.L248L|PIH1D2_ENST00000431456.1_Silent_p.L248L			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	248										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TCAATTTTCAGAGGTTTCTCA	0.368000													31	52					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166388838	166388838	+	Splice_Site	SNP	A	A	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr4:166388838A>G	ENST00000402744.4	+	3	784		c.e3-1			NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E						cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTTTTTTTAGCCTGGTGAA	0.363000													3	25					0	0	1	0	0
DCUN1D2	55208	broad.mit.edu	37	13	114138204	114138204	+	Silent	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr13:114138204C>T	ENST00000478244.1	-	2	453	c.171G>A	c.(169-171)cgG>cgA	p.R57R	DCUN1D2_ENST00000375399.2_Silent_p.R57R|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000460318.1_5'UTR	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	57										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CCACAGCGTTCCGCATGGACT	0.577000													72	74					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450144	44450144	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr4:44450144C>G	ENST00000360029.3	-	1	680	c.397G>C	c.(397-399)Gag>Cag	p.E133Q		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	133						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACTCGGCCTCGCGCAGCAGC	0.617000										HNSCC(17;0.042)			10	11					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36108212	36108212	+	Silent	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:36108212C>T	ENST00000203166.5	+	8	604	c.579C>T	c.(577-579)acC>acT	p.T193T	HAUS5_ENST00000379045.2_Silent_p.T193T	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	193					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CAGCCTGCACCCTCCGGGCCC	0.647000													9	28					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68539451	68539451	+	Silent	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr4:68539451G>A	ENST00000322244.5	-	7	569	c.510C>T	c.(508-510)atC>atT	p.I170I	UBA6_ENST00000420827.2_Silent_p.I170I	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAAGTCATTGATCTTCTTCT	0.313000													55	90					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55204151	55204151	+	Silent	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr5:55204151C>T	ENST00000396834.1	+	13	1852	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	IL31RA_ENST00000359040.5_Silent_p.I471I|IL31RA_ENST00000490985.1_Silent_p.I329I|IL31RA_ENST00000297015.3_Silent_p.I329I|IL31RA_ENST00000447346.2_Silent_p.I471I|IL31RA_ENST00000396836.2_Silent_p.I471I|IL31RA_ENST00000354961.4_Silent_p.I452I	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	439	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CGGTCACGATCACATGGAAAG	0.473000													11	24					0	0	1	0	0
MROH6	642475	broad.mit.edu	37	8	144652761	144652761	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr8:144652761G>A	ENST00000398882.3	-	5	1043	c.787C>T	c.(787-789)Cca>Tca	p.P263S		NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		AGCAGATGTGGGTAGAAGCCC	0.657000													15	19					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	rs67389650		TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:7577127C>T	ENST00000420246.2	-	8	943	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E271K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)		ACACGCACCTCAAAGCTGTTC	0.537000		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)			13	7					0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	677986	677986	+	Missense_Mutation	SNP	C	C	T	rs144404274		TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr5:677986C>T	ENST00000360578.5	-	2	311	c.190G>A	c.(190-192)Gcc>Acc	p.A64T		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	64	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		GTGGCCCTGGCGTCCCCGTGC	0.667000													30	24					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521536	125521536	+	Silent	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr10:125521536G>A	ENST00000241305.3	-	11	1783	c.1629C>T	c.(1627-1629)ccC>ccT	p.P543P	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	543					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGTGGTCGTCGGGGGTGGGGG	0.672000													23	18					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68171015	68171015	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr11:68171015G>A	ENST00000294304.7	+	8	1755	c.1649G>A	c.(1648-1650)gGg>gAg	p.G550E		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	550	Beta-propeller 2.		G -> R (in EVR4; autosomal recessive).		adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACATTTTTGGGTTCACGCTG	0.587000													14	18					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56495505	56495505	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr12:56495505G>T	ENST00000267101.3	+	28	4135	c.3695G>T	c.(3694-3696)aGt>aTt	p.S1232I	ERBB3_ENST00000415288.2_Missense_Mutation_p.S1173I|ERBB3_ENST00000553131.1_Missense_Mutation_p.S473I|ERBB3_ENST00000450146.2_Missense_Mutation_p.S589I|ERBB3_ENST00000549832.1_Missense_Mutation_p.S352I|RP11-603J24.9_ENST00000548861.1_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1232					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCAGACCTCAGTGCCTCTCTG	0.542000													14	6					9.31168e-06	9.59673e-06	1	1	0
UGT1A10	54575	broad.mit.edu	37	2	234545889	234545889	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr2:234545889G>A	ENST00000344644.5	+	1	790	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A10_ENST00000373445.1_Missense_Mutation_p.A241T|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCCTGTCACGGCATATGATCT	0.438000													4	270					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978803	38978803	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:38978803G>A	ENST00000269576.5	-	1	44	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	12	Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GCGGGAGGAAGAGTAGTGCTT	0.527000													7	14					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62465592	62465592	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr8:62465592C>T	ENST00000541428.1	-	20	1697	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	ASPH_ENST00000379454.4_Missense_Mutation_p.E542K	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	542					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCCATTACCTCTTTGTTCCCA	0.403000													44	93					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187713	152187713	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:152187713G>C	ENST00000368801.2	-	3	6467	c.6392C>G	c.(6391-6393)tCt>tGt	p.S2131C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2131					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTAGCCAGAGGAGTGACC	0.567000													29	1190					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19186443	19186443	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:19186443C>T	ENST00000314728.5	+	3	495	c.11C>T	c.(10-12)tCg>tTg	p.S4L	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395626.1_Missense_Mutation_p.S4L|EPN2_ENST00000347697.2_Missense_Mutation_p.S4L|EPN2_ENST00000571254.1_Missense_Mutation_p.S4L|EPN2_ENST00000395620.2_Missense_Mutation_p.S4L	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	4					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ATGACGACTTCGTCTATCAGA	0.458000													8	5					0	0	1	0	0
TMEM30B	161291	broad.mit.edu	37	14	61747248	61747248	+	Silent	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr14:61747248G>A	ENST00000555868.1	-	1	1310	c.618C>T	c.(616-618)ttC>ttT	p.F206F	TMEM30B_ENST00000557163.1_5'UTR|TMEM30B_ENST00000355702.2_Silent_p.F206F	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	206						integral to membrane				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GCGGGTTGCGGAACTTGACGT	0.721000													5	17					0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8273534	8273534	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:8273534C>G	ENST00000396267.1	-	2	982	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.E133Q|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	133	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AAGTACTTTTCTTTGGAAAAT	0.333000													30	26					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39794164	39794164	+	Silent	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr20:39794164C>T	ENST00000373272.2	+	15	1989	c.1584C>T	c.(1582-1584)ggC>ggT	p.G528G	PLCG1_ENST00000244007.3_Silent_p.G528G|PLCG1_ENST00000373271.1_Silent_p.G528G	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	528					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTGACCAGGGCAACGAGGATG	0.567000													3	22					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68602652	68602652	+	Silent	SNP	T	T	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr5:68602652T>C	ENST00000396496.2	-	6	716	c.609A>G	c.(607-609)aaA>aaG	p.K203K	CCDC125_ENST00000511257.1_Silent_p.K78K|CCDC125_ENST00000383374.2_Silent_p.K202K|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Silent_p.K203K			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	203						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ACCTGTCATATTTTTGGATCC	0.284000													36	51					0	0	1	0	0
FOXE1	2304	broad.mit.edu	37	9	100616632	100616632	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr9:100616632C>T	ENST00000375123.3	+	1	1097	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	146					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CCTGCGCCGCCGCAAGCGCTT	0.741000													12	14					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639472	3639472	+	Silent	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr16:3639472C>T	ENST00000294008.3	-	12	4807	c.4167G>A	c.(4165-4167)gcG>gcA	p.A1389A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1389	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCACTTCACCCGCTGGGGTCT	0.632000								Direct reversal of damage					16	32					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117307114	117307114	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:117307114C>A	ENST00000369478.3	+	4	730	c.622C>A	c.(622-624)Ctg>Atg	p.L208M		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	208	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AGAGAAAGGTCTGGACATCTA	0.502000													12	34					3.07112e-06	3.19776e-06	1	1	0
COLEC12	81035	broad.mit.edu	37	18	346526	346526	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr18:346526C>T	ENST00000400256.3	-	5	1303	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	366					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTCCTGACTTCATTTAGATTG	0.468000													16	26					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27500923	27500923	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr16:27500923G>A	ENST00000356183.4	-	20	3308	c.3293C>T	c.(3292-3294)aCt>aTt	p.T1098I	GTF3C1_ENST00000561623.1_Splice_Site_p.T1098I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1098						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGACACGCACGTGGTGTACTC	0.652000													5	8					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833948	82833948	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr5:82833948C>A	ENST00000265077.3	+	8	5691	c.5126C>A	c.(5125-5127)aCa>aAa	p.T1709K	VCAN_ENST00000343200.5_Missense_Mutation_p.T722K|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1709	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTAAGTGAAACAGACACTTCT	0.418000													17	39					2.23348e-06	2.34981e-06	1	1	0
ACER1	125981	broad.mit.edu	37	19	6333532	6333532	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:6333532C>T	ENST00000301452.4	-	1	108	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	11						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CAGTCCACCTCGGAGCTCTGA	0.617000													6	9					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161753803	161753803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:161753803C>T	ENST00000367942.3	+	4	338	c.271C>T	c.(271-273)Cag>Tag	p.Q91*		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	91	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGCAGAACCTCAGCCACTTTC	0.398000													20	59					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37592524	37592524	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr4:37592524G>T	ENST00000284437.6	+	3	1025	c.847G>T	c.(847-849)Ggg>Tgg	p.G283W	C4orf19_ENST00000381980.4_Missense_Mutation_p.G283W|C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	283										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CGATGGAGATGGGGATGGGGA	0.532000													26	49					9.80776e-20	1.07672e-19	1	1	0
ITGB8	3696	broad.mit.edu	37	7	20371490	20371490	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr7:20371490C>G	ENST00000222573.4	+	1	745	c.61C>G	c.(61-63)Cga>Gga	p.R21G	ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAACGACCGGCGAGGTCCCGC	0.562000													19	16					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830711	72830711	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr16:72830711A>C	ENST00000268489.5	-	9	6542	c.5870T>G	c.(5869-5871)gTc>gGc	p.V1957G	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1043G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1957					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATACTGGATGACCAACTCAAA	0.537000													18	20					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894423	78894423	+	Missense_Mutation	SNP	G	G	C	rs149875687		TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr15:78894423G>C	ENST00000326828.5	-	5	945	c.561C>G	c.(559-561)atC>atG	p.I187M	CHRNA3_ENST00000348639.3_Missense_Mutation_p.I187M	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	187					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGACCAGATCGATTTTCGCCT	0.488000													44	78					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838339	17838339	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:17838339G>A	ENST00000324096.4	+	5	2297	c.2146G>A	c.(2146-2148)Ggg>Agg	p.G716R	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.G690R	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	716	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGTGAGGCTGGGCTGAGCCT	0.687000													10	9					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48955559	48955559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr13:48955559G>T	ENST00000267163.4	+	17	1813	c.1675G>T	c.(1675-1677)Gaa>Taa	p.E559*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	559	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCGAATCATGGAATCCCTTGC	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			31	12					1.39806e-14	1.50217e-14	1	1	0
OR4K5	79317	broad.mit.edu	37	14	20389576	20389576	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr14:20389576C>T	ENST00000315915.4	+	1	836	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGATAAATTTCTTGCCATATT	0.398000													38	195					0	0	1	0	0
CRYAB	1410	broad.mit.edu	37	11	111781084	111781084	+	Silent	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr11:111781084C>G	ENST00000533475.1	-	3	740	c.291G>C	c.(289-291)gtG>gtC	p.V97V	CRYAB_ENST00000525823.1_Silent_p.V30V|CRYAB_ENST00000527950.1_Silent_p.V97V|CRYAB_ENST00000533971.1_Silent_p.V97V|CRYAB_ENST00000526180.1_Silent_p.V97V|CRYAB_ENST00000227251.3_Silent_p.V97V|CRYAB_ENST00000531198.1_Silent_p.V97V|CRYAB_ENST00000533280.1_Silent_p.V30V	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	97					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCACCTCAATCACATCTCCCA	0.453000													20	43					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646634	19646634	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:19646634G>A	ENST00000457500.2	-	2	634	c.305C>T	c.(304-306)tCg>tTg	p.S102L	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.S29L|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.S102L|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.S102L|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.S102L|ALDH3A1_ENST00000485231.1_5'UTR	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	102					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CAGTGGCTCCGAGTGGATGTA	0.627000													16	10					0	0	1	0	0
MPLKIP	136647	broad.mit.edu	37	7	40172806	40172806	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr7:40172806C>G	ENST00000306984.6	-	2	483	c.392G>C	c.(391-393)aGa>aCa	p.R131T		NM_138701.3	NP_619646.1	Q8TAP9	TTDN1_HUMAN	M-phase specific PLK1 interacting protein						cell division|mitosis	microtubule organizing center|nucleus		p.R131I(1)									ATTAGACATTCTTTTTTCTCT	0.363000													30	65					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670007	49670007	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr16:49670007C>A	ENST00000561648.1	-	4	3109	c.3056G>T	c.(3055-3057)gGc>gTc	p.G1019V	ZNF423_ENST00000567169.1_Missense_Mutation_p.G902V|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1019V|ZNF423_ENST00000562871.1_Missense_Mutation_p.G959V|ZNF423_ENST00000562520.1_Missense_Mutation_p.G959V|ZNF423_ENST00000563137.2_Missense_Mutation_p.G959V|ZNF423_ENST00000535559.1_Missense_Mutation_p.G902V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1019					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACAGCGGAAGCCCGTGAGTGA	0.602000													26	12					1.66031e-10	1.76517e-10	1	1	0
HECTD1	25831	broad.mit.edu	37	14	31642454	31642454	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr14:31642454A>G	ENST00000399332.1	-	6	1552	c.1064T>C	c.(1063-1065)tTa>tCa	p.L355S	HECTD1_ENST00000553700.1_Missense_Mutation_p.L355S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	355					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)		AGAACTATCTAATCTCCGGAG	0.448000													46	91					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540951	28540951	+	Silent	SNP	T	T	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr6:28540951T>C	ENST00000452236.2	-	4	3332	c.2715A>G	c.(2713-2715)gaA>gaG	p.E905E		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	905					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tatctctgcattcatcaagtt	0.338000													16	34					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66834549	66834549	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:66834549G>A	ENST00000423207.2	+	14	2182	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H	PDE4B_ENST00000371045.5_Missense_Mutation_p.R409H|PDE4B_ENST00000329654.4_Missense_Mutation_p.R581H|PDE4B_ENST00000480109.2_Missense_Mutation_p.R348H|PDE4B_ENST00000371049.3_Missense_Mutation_p.R581H	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	581					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGACAGACCGCATCATGGAG	0.478000													36	50					0	0	1	0	0
TRNAU1AP	54952	broad.mit.edu	37	1	28887162	28887162	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:28887162G>A	ENST00000373830.3	+	3	169	c.143G>A	c.(142-144)tGc>tAc	p.C48Y	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	48	RRM 1.				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						GCTGGCTACTGCTTTGTAGAA	0.423000													21	35					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82543969	82543969	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr7:82543969G>C	ENST00000437081.1	-	2	3493	c.3493C>G	c.(3493-3495)Caa>Gaa	p.Q1165E	PCLO_ENST00000333891.9_Intron|PCLO_ENST00000423517.2_Intron			Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	0					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGAGTTTTGAGAGTAACAG	0.388000													8	11					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061812	38061812	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr14:38061812C>T	ENST00000250448.2	-	2	238	c.177G>A	c.(175-177)atG>atA	p.M59I	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M26I	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	59					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGCCGGGGTCATGTTGCCGC	0.642000													37	35					0	0	1	0	0
METTL14	57721	broad.mit.edu	37	4	119631241	119631241	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr4:119631241G>C	ENST00000388822.5	+	11	1322	c.1155G>C	c.(1153-1155)ttG>ttC	p.L385F	METTL14_ENST00000506780.1_Missense_Mutation_p.L347F			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ATTCCTACTTGACTGGTTGTA	0.468000													30	24					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123875841	123875841	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr9:123875841G>C	ENST00000373855.1	+	10	1444	c.1184G>C	c.(1183-1185)aGa>aCa	p.R395T	CNTRL_ENST00000373865.2_Missense_Mutation_p.R395T|CNTRL_ENST00000238341.5_Missense_Mutation_p.R395T			Q7Z7A1	CNTRL_HUMAN	centriolin	395					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						AGATACAAGAGAAATATGTTT	0.353000													24	57					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968689	87968689	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr4:87968689G>C	ENST00000307808.6	+	3	1401	c.981G>C	c.(979-981)ttG>ttC	p.L327F	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.L334F	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	327						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAACAGACTTGAAAGTGCCTG	0.493000													22	50					0	0	1	0	0
MEIS3	56917	broad.mit.edu	37	19	47910374	47910374	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:47910374C>A	ENST00000331559.5	-	10	1484	c.1043G>T	c.(1042-1044)cGc>cTc	p.R348L	MEIS3_ENST00000441740.2_Missense_Mutation_p.R302L|MEIS3_ENST00000559524.1_Missense_Mutation_p.R365L|MEIS3_ENST00000558555.1_Missense_Mutation_p.R319L|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Missense_Mutation_p.R365L|MEIS3_ENST00000561096.1_Missense_Mutation_p.R407L	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	319						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TTGCACGATGCGTCTCCGGGC	0.607000													3	5					0.115264	0.116417	1	1	0
INTS8	55656	broad.mit.edu	37	8	95869021	95869021	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr8:95869021A>C	ENST00000523731.1	+	15	1902	c.1769A>C	c.(1768-1770)aAa>aCa	p.K590T	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.K590T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	590					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCCCATGCTAAACAGCTCTTT	0.428000													41	87					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283569	33283569	+	Silent	SNP	G	G	C			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr6:33283569G>C	ENST00000431845.2	-	2	1276	c.1125C>G	c.(1123-1125)gtC>gtG	p.V375V	ZBTB22_ENST00000418724.1_Silent_p.V375V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CACAGAAGTTGACCTGCTCCT	0.602000													22	53					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332580	130332580	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr11:130332580C>T	ENST00000299164.2	+	4	1447	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	483	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGCCAGACCCGCCACTTCCC	0.627000													25	30					0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53099244	53099244	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:53099244G>A	ENST00000517870.1	+	1	229	c.79G>A	c.(79-81)Gag>Aag	p.E27K	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	27						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						gccggggggcgaggcggccgc	0.711000													11	18					0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18898399	18898399	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:18898399C>T	ENST00000542601.2	-	9	1326	c.937G>A	c.(937-939)Gat>Aat	p.D313N	COMP_ENST00000425807.1_Missense_Mutation_p.D293N|COMP_ENST00000222271.2_Missense_Mutation_p.D346N			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	346					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCGCACGCATCGCCCCACTTG	0.637000													21	45					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166991023	166991023	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:166991023C>G	ENST00000367872.4	+	12	1480	c.1236C>G	c.(1234-1236)aaC>aaG	p.N412K	MAEL_ENST00000367870.2_Missense_Mutation_p.N381K|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	412					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATTCTCCAACTGTGACACTT	0.393000													59	59					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17320157	17320157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr1:17320157delG	ENST00000452699.1	-	16	1890	c.1701delC	c.(1699-1701)cccfs	p.P567fs	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Frame_Shift_Del_p.P567fs|ATP13A2_ENST00000326735.8_Frame_Shift_Del_p.P572fs	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	572					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCAAGTCCATGGGGTCGCCCA	0.682													2	4	---	---	---	---					
GMPPA	29926	broad.mit.edu	37	2	220370254	220370254	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr2:220370254delC	ENST00000358215.3	+	9	1199	c.830delC	c.(829-831)accfs	p.T277fs	GMPPA_ENST00000373908.1_Frame_Shift_Del_p.T277fs|GMPPA_ENST00000313597.5_Frame_Shift_Del_p.T277fs|GMPPA_ENST00000341142.3_Frame_Shift_Del_p.T277fs|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Frame_Shift_Del_p.T277fs	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	277					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GCCAAGCACACCCCAGGGGGC	0.637													2	4	---	---	---	---					
BOC	91653	broad.mit.edu	37	3	112997591	112997591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr3:112997591delC	ENST00000495514.1	+	11	2478	c.1774delC	c.(1774-1776)cccfs	p.P592fs	BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Frame_Shift_Del_p.P592fs|BOC_ENST00000273395.4_Frame_Shift_Del_p.P593fs			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	592					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGGAGCCAGTCCCCAGAGCAG	0.637													2	4	---	---	---	---					
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr4:7044507_7044509delCTC	ENST00000310085.4	-	1	219_221	c.157_159delGAG	c.(157-159)gagdel	p.E53del	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAGCCGCTTGCTCCTCCTCCTCC	0.729													2	4	---	---	---	---					
ZFYVE16	9765	broad.mit.edu	37	5	79732757	79732757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr5:79732757delC	ENST00000338008.5	+	3	433	c.253delC	c.(253-255)ctcfs	p.L85fs	ZFYVE16_ENST00000510158.1_Frame_Shift_Del_p.L85fs|ZFYVE16_ENST00000505560.1_Frame_Shift_Del_p.L85fs	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	85					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGAAAAAACACTCAAGGGACT	0.388													24	27	---	---	---	---					
SHH	6469	broad.mit.edu	37	7	155599048	155599048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr7:155599048delG	ENST00000297261.2	-	2	654	c.504delC	c.(502-504)gccfs	p.A168fs		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	168					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCGAAGCCGGCCTCCACCG	0.652													15	37	---	---	---	---					
GATA3	2625	broad.mit.edu	37	10	8115963	8115964	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr10:8115963_8115964insGC	ENST00000379328.3	+	6	1880_1881	c.1312_1313insGC	c.(1312-1314)agcfs	p.S438fs	GATA3_ENST00000346208.3_Frame_Shift_Ins_p.S437fs|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	437					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCACCCCTCCAGCATGGTCACC	0.624			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						28	31	---	---	---	---					
FAM99B	100132464	broad.mit.edu	37	11	1706206	1706232	+	RNA	DEL	CCCAGGAGGGAAGGGGGTCCAGGAGGA	CCCAGGAGGGAAGGGGGTCCAGGAGGA	-	rs113543086	by1000genomes	TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr11:1706206_1706232delCCCAGGAGGGAAGGGGGTCCAGGAGGA	ENST00000382166.2	-	0	192					NR_026642.1																						TCCAGGAGGGCCCAGGAGGGAAGGGGGTCCAGGAGGACAGGGGGTCC	0.722													3	3	---	---	---	---					
THTPA	79178	broad.mit.edu	37	14	24020895	24020897	+	RNA	DEL	CCT	CCT	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr14:24020895_24020897delCCT	ENST00000553985.1	+	0	238				RP11-66N24.4_ENST00000556354.1_RNA	NR_046052.1																						tcctcctcgccctcctcctcctc	0.621													3	3	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													2	4	---	---	---	---					
CCDC144NL	339184	broad.mit.edu	37	17	20768756	20768756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr17:20768756delT	ENST00000327925.5	-	4	757	c.638delA	c.(637-639)aagfs	p.K213fs	CCDC144NL_ENST00000539484.1_5'UTR	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	213										large_intestine(3)|lung(3)|skin(1)	7						CACATGATTCTTCCCCTTTCT	0.368													8	34	---	---	---	---					
CCL25	6370	broad.mit.edu	37	19	8117963	8117963	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:8117963delG	ENST00000253451.4	+	2	136	c.30delG	c.(28-30)gtgfs	p.V10fs	CCL25_ENST00000315626.4_Frame_Shift_Del_p.V10fs|CCL25_ENST00000390669.3_Frame_Shift_Del_p.V10fs	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	10					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						CCTGCCTGGTGGCCGGCTTCC	0.677													2	4	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48205008	48205008	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr19:48205008delT	ENST00000396720.3	+	15	4213	c.4019delT	c.(4018-4020)ctcfs	p.L1340fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1340							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCGCTACCCTCAAGGTGGCC	0.741													2	4	---	---	---	---					
BAIAP2L2	80115	broad.mit.edu	37	22	38506529	38506529	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMF-01A-21D-A42E-08	TCGA-XF-AAMF-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d64a188-64b2-4fe7-9c6f-f5d963135ce4	5c94c3ec-7a23-48c1-a65b-4ea0d401b5fb	g.chr22:38506529delC	ENST00000381669.3	-	1	148	c.4delG	c.(4-6)gccfs	p.A2fs	BAIAP2L2_ENST00000332536.5_Frame_Shift_Del_p.A2fs	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	2	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					ATCTCGGGGGCCATGGAGGGG	0.647													2	4	---	---	---	---