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
LOC101927209	101927209	broad.mit.edu	37	1	142713956	142713956	+	RNA	SNP	G	G	A	rs12161184	by1000genomes	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:142713956G>A	ENST00000369381.2	-	0	649																											AAGTTAAAGAGTAACCTGCAC	0.308000													6	18					0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9057011	9057011	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:9057011G>A	ENST00000397910.4	-	3	30638	c.30435C>T	c.(30433-30435)tcC>tcT	p.S10145S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10147	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATTGATGTGGAAATAGAGG	0.458000													19	32					0	0	7.07596e-05	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032880	193032880	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:193032880T>A	ENST00000342358.4	-	18	2156	c.2039A>T	c.(2038-2040)aAa>aTa	p.K680I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	680					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGACTCCACTTTTTCTCTTTG	0.328000													31	56					0	0	0.00058488	0	0
PEX5L	51555	broad.mit.edu	37	3	179593214	179593214	+	Missense_Mutation	SNP	C	C	T	rs143237596		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:179593214C>T	ENST00000467460.1	-	6	887	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	PEX5L_ENST00000476138.1_Missense_Mutation_p.R143Q|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.R78Q|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000263962.8_Missense_Mutation_p.R184Q|PEX5L_ENST00000392649.3_Missense_Mutation_p.R78Q|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Missense_Mutation_p.R127Q|PEX5L_ENST00000485199.1_Missense_Mutation_p.R151Q|PEX5L_ENST00000465751.1_Missense_Mutation_p.R162Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	186					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTTGGTATTTCGATCTCCATG	0.448000													32	47					0	0	0.000339439	0	0
NELL2	4753	broad.mit.edu	37	12	44913862	44913862	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:44913862C>T	ENST00000429094.2	-	19	2830	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	NELL2_ENST00000452445.2_Missense_Mutation_p.E776K|NELL2_ENST00000549027.1_Missense_Mutation_p.E775K|NELL2_ENST00000395487.2_Missense_Mutation_p.E775K|NELL2_ENST00000333837.4_Missense_Mutation_p.E799K|NELL2_ENST00000551601.1_Missense_Mutation_p.E728K|NELL2_ENST00000437801.2_Missense_Mutation_p.E826K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	776	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACATTCATTTCGTCCAGGCAA	0.498000													39	39					0	0	0.000437636	0	0
PTPN5	84867	broad.mit.edu	37	11	18750513	18750513	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:18750513C>T	ENST00000396170.1	-	15	2834	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	PTPN5_ENST00000396171.4_Missense_Mutation_p.E556K|PTPN5_ENST00000396167.2_Missense_Mutation_p.E524K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E556K|PTPN5_ENST00000396166.3_Missense_Mutation_p.E162K|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.E532K|PTPN5_ENST00000477854.1_Missense_Mutation_p.E360K	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	556	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGCTGCTTTTCGTAGAGGCTC	0.622000													34	31					0	0	0.000191422	0	0
FCRL1	115350	broad.mit.edu	37	1	157771705	157771705	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:157771705C>T	ENST00000358292.3	-	5	937	c.886_splice	c.e5+1	p.G296_splice	FCRL1_ENST00000491942.1_Splice_Site_p.V296_splice|FCRL1_ENST00000368176.3_Splice_Site_p.V296_splice|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	335						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGAGCTATACCTGTGAAGTTG	0.552000													39	47					0	0	0.000437636	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													4	75					0	0	3.59834e-05	0	0
BAGE2	85319	broad.mit.edu	37	21	11038893	11038893	+	RNA	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr21:11038893C>T	ENST00000470054.1	-	0	1310									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAGGCAAGTCTGAAGAAGGT	0.423000													22	351					0	0	0.000375601	0	0
DLGAP5	9787	broad.mit.edu	37	14	55655776	55655776	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:55655776C>T	ENST00000247191.2	-	2	338	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R41Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	41					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GTGTCTATTTCGTTCGTATTC	0.353000													27	40					0	0	0.000227799	0	0
FBN3	84467	broad.mit.edu	37	19	8176585	8176585	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:8176585G>A	ENST00000600128.1	-	32	4445	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F	FBN3_ENST00000601739.1_Missense_Mutation_p.S1344F|FBN3_ENST00000270509.2_Missense_Mutation_p.S1344F			Q75N90	FBN3_HUMAN	fibrillin 3	1344	EGF-like 20; calcium-binding.					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						GCAGCGGTAGGAGCCAGGGAC	0.647000													19	38					0	0	9.7654e-05	0	0
DCST1	149095	broad.mit.edu	37	1	155011916	155011916	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:155011916C>T	ENST00000295542.1	+	5	396	c.300C>T	c.(298-300)atC>atT	p.I100I	DCST1_ENST00000392480.1_Silent_p.I100I|DCST1_ENST00000423025.2_Silent_p.I75I|DCST1_ENST00000368419.2_Silent_p.I100I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	100						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCCTCACATCCGCTGTGCCA	0.602000													59	64					0	0	0.000147903	0	0
TRAV36DV7	28646	broad.mit.edu	37	14	22694915	22694915	+	RNA	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:22694915G>A	ENST00000390463.3	+	0	122																											GGTTGTCCACGAGGGAGACAC	0.438000													28	35					0	0	0.000147802	0	0
LTB	4050	broad.mit.edu	37	6	31550182	31550182	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:31550182C>T	ENST00000429299.2	-	1	20	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Missense_Mutation_p.G5R	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	5					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CCCTCCAGCCCCAGTGCCCCC	0.652000													24	18					0	0	0.000117367	0	0
EPPIN	57119	broad.mit.edu	37	20	44171395	44171395	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:44171395C>T	ENST00000354280.4	-	3	401	c.335G>A	c.(334-336)gGa>gAa	p.G112E	EPPIN_ENST00000555685.1_Missense_Mutation_p.G112E|EPPIN_ENST00000336443.3_Missense_Mutation_p.G96E|EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.G112E|EPPIN_ENST00000409554.1_Splice_Site_p.G75_splice	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor																		GTTATTGTTTCCCTGGCAGCC	0.468000													57	84					0	0	0.000147903	0	0
EPPK1	83481	broad.mit.edu	37	8	144940333	144940333	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:144940333G>A	ENST00000525985.1	-	2	7160	c.7089C>T	c.(7087-7089)taC>taT	p.Y2363Y				P58107	EPIPL_HUMAN	epiplakin 1	2363						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCGCGCCGGTAGGCCACGT	0.692000													19	563					0	0	9.22233e-05	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516849	140516849	+	Silent	SNP	C	C	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr5:140516849C>A	ENST00000231134.5	+	1	2050	c.1833C>A	c.(1831-1833)ccC>ccA	p.P611P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		611	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGGAGCCCGGGCTGTTCA	0.701000													62	18					1.74971e-23	5.79122e-22	0.000147903	1	0
XYLT1	64131	broad.mit.edu	37	16	17211549	17211549	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:17211549G>A	ENST00000261381.6	-	11	2595	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	837					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGCAACGAGGAATTTGGTCT	0.532000													21	45					0	0	0.000132079	0	0
VNN3	55350	broad.mit.edu	37	6	133055466	133055466	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:133055466C>T	ENST00000425515.2	-	2	342	c.270G>A	c.(268-270)agG>agA	p.R90R	VNN3_ENST00000509351.1_Silent_p.R90R|VNN3_ENST00000417437.2_Silent_p.R122R|VNN3_ENST00000392394.2_Silent_p.R90R|VNN3_ENST00000414302.2_Silent_p.R90R|VNN3_ENST00000275223.3_Silent_p.R90R|VNN3_ENST00000450865.2_Silent_p.R91R|VNN3_ENST00000423615.2_Silent_p.R90R|VNN3_ENST00000519686.2_Silent_p.R90R|VNN3_ENST00000207771.3_Silent_p.R90R|VNN3_ENST00000367927.5_Silent_p.R90R|VNN3_ENST00000427187.2_Silent_p.R90R|VNN3_ENST00000392393.3_Silent_p.R90R					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AAATGCTCTCCCTGGTGAAGA	0.428000													21	8					0	0	0.000175454	0	0
LIG1	3978	broad.mit.edu	37	19	48664688	48664688	+	Silent	SNP	G	G	T	rs3730863		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:48664688G>T	ENST00000263274.7	-	4	603	c.184C>A	c.(184-186)Cgg>Agg	p.R62R	LIG1_ENST00000427526.2_Silent_p.R32R|LIG1_ENST00000536218.1_Silent_p.R62R|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	62			R -> W (in dbSNP:rs3730863).		anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCAGGACCCGGGCCGCCTTC	0.607000								Nucleotide excision repair (NER)					6	177					8.12818e-05	0.00253477	8.12818e-05	1	0
NAV1	89796	broad.mit.edu	37	1	201782312	201782312	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:201782312C>T	ENST00000367296.4	+	28	5686	c.5266C>T	c.(5266-5268)Cgg>Tgg	p.R1756W	NAV1_ENST00000295624.6_Missense_Mutation_p.R1753W|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R1748W|NAV1_ENST00000367302.1_Missense_Mutation_p.R1709W|NAV1_ENST00000367295.1_Missense_Mutation_p.R1362W|NAV1_ENST00000367300.3_Missense_Mutation_p.R1696W	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1756					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGAGGACTTCCGGACCTGGTT	0.522000													23	45					0	0	9.22233e-05	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279585	53279585	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:53279585G>A	ENST00000396435.3	-	5	2373	c.2173C>T	c.(2173-2175)Ccg>Tcg	p.P725S	IQSEC2_ENST00000375368.5_Missense_Mutation_p.P715S|IQSEC2_ENST00000375365.2_Missense_Mutation_p.P520S	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	715					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCGGTAGCCGGAGGCTCCCTT	0.572000													13	2					0	0	0.00010058	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529400	5529400	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:5529400G>A	ENST00000311659.4	-	2	1536	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	463										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCGTGGGGGAAAAAGATA	0.547000													25	27					0	0	0.000586117	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233660	63233660	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:63233660G>A	ENST00000540857.1	-	5	771	c.639C>T	c.(637-639)atC>atT	p.I213I	HRASLS5_ENST00000539221.1_Silent_p.I223I|HRASLS5_ENST00000301790.4_Silent_p.I223I	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	223										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTACTGCACGATCTTGTTGA	0.517000													48	41					0	0	0.000125731	0	0
GGT6	124975	broad.mit.edu	37	17	4463750	4463750	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:4463750C>T	ENST00000301395.3	-	1	126	c.67G>A	c.(67-69)Gag>Aag	p.E23K	GGT6_ENST00000574154.1_Missense_Mutation_p.E23K|GGT6_ENST00000381550.3_Missense_Mutation_p.E23K	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	23	Poly-Glu.				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACTTCCTCCTCCGACTCCAAG	0.642000													31	40					0	0	0.000409698	0	0
MADD	8567	broad.mit.edu	37	11	47345360	47345360	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:47345360C>A	ENST00000342922.4	+	28	4696	c.4339C>A	c.(4339-4341)Cag>Aag	p.Q1447K	MADD_ENST00000395336.3_Missense_Mutation_p.Q1506K|MADD_ENST00000395344.3_Missense_Mutation_p.Q1400K|MADD_ENST00000402192.2_Missense_Mutation_p.Q1446K|MADD_ENST00000349238.3_Missense_Mutation_p.Q1467K|MADD_ENST00000311027.5_Missense_Mutation_p.Q1506K|MADD_ENST00000407859.3_Missense_Mutation_p.Q1424K|MADD_ENST00000406482.1_Missense_Mutation_p.Q1404K|MADD_ENST00000405573.2_Missense_Mutation_p.Q316K|MADD_ENST00000402799.1_Missense_Mutation_p.Q1404K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1506					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTCTGAGACCCAGCTCAACAA	0.463000													31	20					3.76114e-14	1.22237e-12	0.000132358	1	0
MAP2K3	5606	broad.mit.edu	37	17	21215477	21215477	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:21215477C>T	ENST00000342679.4	+	10	1047	c.798C>T	c.(796-798)ttC>ttT	p.F266F	MAP2K3_ENST00000361818.5_Silent_p.F237F|MAP2K3_ENST00000316920.6_Silent_p.F237F	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	266	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCTGCGGTTCCCTTACGAGT	0.672000													4	37					0	0	1.23904e-05	0	0
CPQ	10404	broad.mit.edu	37	8	97797463	97797463	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:97797463G>T	ENST00000220763.5	+	2	548	c.338G>T	c.(337-339)tGg>tTg	p.W113L		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	113					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										ATACCCCACTGGGAGAGGGGA	0.498000													17	52					3.99206e-14	1.28965e-12	9.7654e-05	1	0
SNHG14	104472715	broad.mit.edu	37	15	25444523	25444523	+	RNA	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr15:25444523C>T	ENST00000424208.1	+	0	1796				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GTCCTGGTTTCCTACACTGAG	0.587000													30	10					0	0	0.000147802	0	0
AIPL1	23746	broad.mit.edu	37	17	6329120	6329120	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:6329120C>A	ENST00000381129.3	-	6	895	c.815G>T	c.(814-816)cGg>cTg	p.R272L	AIPL1_ENST00000576776.1_Missense_Mutation_p.R248L|AIPL1_ENST00000576307.1_Missense_Mutation_p.R212L|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000574506.1_Missense_Mutation_p.R260L|AIPL1_ENST00000250087.5_Missense_Mutation_p.R209L|AIPL1_ENST00000570466.1_Missense_Mutation_p.R250L	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	272					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TGCGTGAGCCCGGGCACGCAC	0.667000													17	26					6.94344e-10	2.21656e-08	7.07596e-05	1	0
PIAS3	10401	broad.mit.edu	37	1	145578322	145578322	+	Silent	SNP	C	C	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:145578322C>A	ENST00000393045.2	+	2	375	c.285C>A	c.(283-285)ccC>ccA	p.P95P	PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000369299.3_Silent_p.P86P	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	95	Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCTAGCTCCCATTCCCCCAA	0.657000													50	57					3.81248e-40	1.27754e-38	0.000147903	1	0
KMT2C	58508	broad.mit.edu	37	7	151945151	151945151	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:151945151C>T	ENST00000355193.2	-	14	2586	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	KMT2C_ENST00000262189.6_Missense_Mutation_p.D790N					lysine (K)-specific methyltransferase 2C																		GAAGGCAAGTCTGAAGAAGGT	0.423000													19	478					0	0	0.000147802	0	0
TEX15	56154	broad.mit.edu	37	8	30705724	30705724	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:30705724G>A	ENST00000256246.2	-	1	884	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	270										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTATTGGACTGATTTTTGTTT	0.313000													43	14					0	0	0.000270559	0	0
HOXC6	3223	broad.mit.edu	37	12	54423524	54423524	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:54423524C>T	ENST00000394331.3	+	3	1950	c.240C>T	c.(238-240)ttC>ttT	p.F80F	HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Silent_p.F162F|HOXC4_ENST00000303406.4_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	162					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AATTTCACTTCAATCGCTACC	0.607000													56	82					0	0	0.000147903	0	0
FAM47A	158724	broad.mit.edu	37	X	34150006	34150006	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:34150006G>A	ENST00000346193.3	-	1	441	c.390C>T	c.(388-390)ccC>ccT	p.P130P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	130										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACATGGCCAAGGGATGCTTGG	0.557000													40	18					0	0	0.000270559	0	0
SPTB	6710	broad.mit.edu	37	14	65269006	65269006	+	Silent	SNP	T	T	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:65269006T>C	ENST00000389722.3	-	4	557	c.504A>G	c.(502-504)gaA>gaG	p.E168E	SPTB_ENST00000542895.1_Silent_p.E168E|SPTB_ENST00000556626.1_Silent_p.E168E|SPTB_ENST00000389720.3_Silent_p.E168E|SPTB_ENST00000389721.5_Silent_p.E168E	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	168	Actin-binding.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTCACGACCTTCCTGAGTTT	0.532000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	13					0	0	0.00010058	0	0
CATSPERB	79820	broad.mit.edu	37	14	92157878	92157878	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:92157878C>T	ENST00000256343.3	-	10	1009	c.853G>A	c.(853-855)Ggt>Agt	p.G285S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	285					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTTCAAAACCACAAAAGTCT	0.328000													81	117					0	0	0.000147903	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394647	17394647	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:17394647C>T	ENST00000394458.3	+	5	1350	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	ANKLE1_ENST00000594072.1_Silent_p.V347V|ANKLE1_ENST00000598347.1_Silent_p.V358V|ANKLE1_ENST00000404085.1_Silent_p.V380V|ANKLE1_ENST00000433424.2_Silent_p.V412V	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	358	LEM.					nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						ACCTGCCAGTCTCCACTGTGT	0.582000													26	31					0	0	0.00047179	0	0
CDR1	1038	broad.mit.edu	37	X	139865915	139865915	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:139865915C>T	ENST00000370532.2	-	1	808	c.617G>A	c.(616-618)tGg>tAg	p.W206*		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	206	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGAAAAAATCCAGGTCTTCCA	0.448000													75	24					0	0	0.000147903	0	0
LPHN3	23284	broad.mit.edu	37	4	62813993	62813993	+	Splice_Site	SNP	A	A	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:62813993A>G	ENST00000512091.1	+	16	3347	c.2601_splice	c.e16+1	p.K867_splice	LPHN3_ENST00000507164.1_Splice_Site_p.K935_splice|LPHN3_ENST00000504896.1_Splice_Site_p.K867_splice|LPHN3_ENST00000506720.1_Splice_Site_p.K935_splice|LPHN3_ENST00000507625.1_Splice_Site_p.K935_splice|LPHN3_ENST00000508693.1_Splice_Site_p.K935_splice|LPHN3_ENST00000514996.1_Splice_Site_p.K867_splice|LPHN3_ENST00000545650.1_Splice_Site_p.K867_splice|LPHN3_ENST00000508946.1_Splice_Site_p.K867_splice|LPHN3_ENST00000514157.1_Splice_Site_p.K867_splice|LPHN3_ENST00000514591.1_Splice_Site_p.K867_splice|LPHN3_ENST00000509896.1_Splice_Site_p.K935_splice|LPHN3_ENST00000506746.1_Splice_Site_p.K935_splice|LPHN3_ENST00000506700.1_Splice_Site_p.K867_splice|LPHN3_ENST00000511324.1_Splice_Site_p.K935_splice			Q9HAR2	LPHN3_HUMAN	latrophilin 3	854					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGGAAGTTAAGGTAAGATAT	0.343000													18	26					0	0	9.7654e-05	0	0
XIRP2	129446	broad.mit.edu	37	2	168099467	168099467	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr2:168099467C>T	ENST00000409195.1	+	9	1654	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	XIRP2_ENST00000295237.9_Missense_Mutation_p.S522F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S300F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	347					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTGAAGTTTCTGAGATTGTT	0.328000													11	3					0	0	6.40141e-05	0	0
SERINC3	10955	broad.mit.edu	37	20	43142583	43142583	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:43142583G>A	ENST00000342374.4	-	2	295	c.138C>T	c.(136-138)ctC>ctT	p.L46L	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000255175.1_Silent_p.L46L|SERINC3_ENST00000541235.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	46						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TGCTCAGGAGGAGAATGAAAG	0.438000													28	64					0	0	0.000117367	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180667	142180667	+	RNA	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:142180667C>T	ENST00000390368.2	-	0	257																											AGTAATGAATCAGCCTCAGCC	0.517000													28	240					0	0	0.000147903	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474556	140474556	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr5:140474556T>C	ENST00000194155.4	+	1	330	c.182T>C	c.(181-183)cTt>cCt	p.L61P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		61	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGGAGAACTTGCTGTGAGG	0.502000													29	9					0	0	0.000184323	0	0
ITGAL	3683	broad.mit.edu	37	16	30522249	30522249	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:30522249G>A	ENST00000356798.6	+	23	2847	c.2667G>A	c.(2665-2667)ggG>ggA	p.G889G	ITGAL_ENST00000433423.2_Silent_p.G123G|ITGAL_ENST00000358164.5_Silent_p.G805G	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	889					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCTCCTGGGGGGACTCGGTTG	0.567000													22	31					0	0	0.000295444	0	0
GPR65	8477	broad.mit.edu	37	14	88477401	88477401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:88477401G>A	ENST00000267549.3	+	2	768	c.210G>A	c.(208-210)tgG>tgA	p.W70*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	70					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TCCCTTTATGGATTGATTATA	0.393000													56	81					0	0	0.000147903	0	0
GPAA1	8733	broad.mit.edu	37	8	145139185	145139185	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:145139185C>T	ENST00000355091.4	+	6	886	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GPAA1_ENST00000527144.1_Intron|GPAA1_ENST00000361036.6_Silent_p.F195F	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	255					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAATCTCTTCCAGACCTTCT	0.642000													57	47					0	0	0.000147903	0	0
ZNF831	128611	broad.mit.edu	37	20	57828183	57828183	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:57828183G>A	ENST00000371030.2	+	4	4178	c.4178G>A	c.(4177-4179)cGa>cAa	p.R1393Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1393						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGGACAAACGAACTGTGAAG	0.468000													50	85					0	0	0.000147903	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177173	67177173	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:67177173G>A	ENST00000312390.5	+	10	1318	c.1289G>A	c.(1288-1290)gGg>gAg	p.G430E	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.G430E|TBC1D10C_ENST00000526387.1_3'UTR	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	430	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCATCGAGGGGCCCCCCAGG	0.682000													12	15					0	0	0.000308642	0	0
NPAP1	23742	broad.mit.edu	37	15	24923711	24923711	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr15:24923711C>T	ENST00000329468.2	+	1	3171	c.2697C>T	c.(2695-2697)tcC>tcT	p.S899S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCTCTCATTCCACACTTGGGG	0.498000													61	23					0	0	0.000147903	0	0
GALNT15	117248	broad.mit.edu	37	3	16264263	16264263	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:16264263G>A	ENST00000339732.5	+	9	2274	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	GALNT15_ENST00000437509.1_Missense_Mutation_p.E591K	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGACTTCCAGGAGGTGAGTAA	0.557000													24	6					0	0	0.000375601	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													6	71					0	0	3.59834e-05	0	0
SIRPB2	284759	broad.mit.edu	37	20	1457799	1457799	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:1457799A>T	ENST00000537284.1	-	5	965	c.629T>A	c.(628-630)cTa>cAa	p.L210Q	SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000381630.1_3'UTR			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	0	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						agttcgttatagctgagctgT	0.493000													4	4					0	0	0.00024832	0	0
IPO4	79711	broad.mit.edu	37	14	24655957	24655957	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:24655957C>T	ENST00000354464.6	-	9	973	c.797G>A	c.(796-798)cGt>cAt	p.R266H	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	266					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCAGAGAATACGTATGCGTAT	0.502000													18	34					0	0	0.000175454	0	0
ZNF407	55628	broad.mit.edu	37	18	72346087	72346087	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr18:72346087C>T	ENST00000299687.5	+	1	3112	c.3112C>T	c.(3112-3114)Cgg>Tgg	p.R1038W	ZNF407_ENST00000582337.1_Missense_Mutation_p.R1038W|ZNF407_ENST00000577538.1_Missense_Mutation_p.R1038W|ZNF407_ENST00000309902.6_Missense_Mutation_p.R1038W	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCATGTAAAACGGAAACATAC	0.463000													57	18					0	0	0.000147903	0	0
CACNB2	783	broad.mit.edu	37	10	18828608	18828608	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr10:18828608G>A	ENST00000396576.2	+	13	2274	c.1773G>A	c.(1771-1773)cgG>cgA	p.R591R	CACNB2_ENST00000377315.4_Silent_p.R598R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Silent_p.R592R|CACNB2_ENST00000282343.8_Silent_p.R618R|CACNB2_ENST00000377331.2_Silent_p.R594R|CACNB2_ENST00000352115.6_Silent_p.R622R|CACNB2_ENST00000377328.1_Silent_p.R396R|CACNB2_ENST00000324631.7_Silent_p.R646R|CACNB2_ENST00000377319.3_Silent_p.R553R	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	646					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAAAAACGGAATGAGGCTG	0.423000													25	40					0	0	0.000279167	0	0
PITRM1	10531	broad.mit.edu	37	10	3181112	3181112	+	Silent	SNP	G	G	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr10:3181112G>C	ENST00000380989.2	-	25	2942	c.2904C>G	c.(2902-2904)gtC>gtG	p.V968V	PITRM1_ENST00000224949.4_Silent_p.V967V|PITRM1_ENST00000451104.2_Silent_p.V869V|PITRM1_ENST00000380994.1_Silent_p.V525V|PITRM1_ENST00000464395.1_5'UTR	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	869					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTGAAGGAGCGACAGGAGCAT	0.483000													85	132					0	0	0.000147903	0	0
FAM47A	158724	broad.mit.edu	37	X	34150007	34150007	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:34150007G>A	ENST00000346193.3	-	1	440	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	130										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CATGGCCAAGGGATGCTTGGC	0.557000													43	18					0	0	0.000589545	0	0
FBXL13	222235	broad.mit.edu	37	7	102518846	102518846	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:102518846C>T	ENST00000393772.2	-	15	1866	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	FBXL13_ENST00000455112.2_Silent_p.R480R|FBXL13_ENST00000379305.3_Silent_p.R480R|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Silent_p.R480R|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Silent_p.R480R|FBXL13_ENST00000379308.3_Silent_p.R480R			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	480										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GCTCTCTTATCCTCATGCTTG	0.348000													36	46					0	0	0.000509022	0	0
PITX2	5308	broad.mit.edu	37	4	111542323	111542323	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:111542323G>A	ENST00000354925.2	-	6	2092	c.387C>T	c.(385-387)gtC>gtT	p.V129V	PITX2_ENST00000557119.2_Silent_p.V136V|PITX2_ENST00000394598.2_Silent_p.V129V|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000306732.3_Silent_p.V136V|PITX2_ENST00000355080.5_Silent_p.V83V	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	129			Missing (in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity).|V -> L (in RIEG1; more than 200% increase in transactivation activity).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTCCTACCCGGACTCGGGCTT	0.612000													16	21					0	0	0.000422831	0	0
NOS3	4846	broad.mit.edu	37	7	150707703	150707703	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:150707703G>A	ENST00000297494.3	+	22	3061	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	NOS3_ENST00000477227.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.E696K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	902	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ACGCTACGAGGAGTGGAAGTG	0.667000													4	8					0	0	1.23904e-05	0	0
SNAPC2	6618	broad.mit.edu	37	19	7986931	7986931	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:7986931C>T	ENST00000221573.6	+	4	435	c.384C>T	c.(382-384)atC>atT	p.I128I	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	128					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGCTCACCATCGCGGCCACGG	0.627000													63	97					0	0	0.000147903	0	0
NRXN3	9369	broad.mit.edu	37	14	79270122	79270122	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:79270122G>A	ENST00000554719.1	+	6	1576	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R362H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	140					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACACCCTGCGTCTGGAGCTG	0.552000													29	42					0	0	0.000184323	0	0
SLC22A10	387775	broad.mit.edu	37	11	63071674	63071674	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:63071674C>T	ENST00000544661.1	+	9	1204	c.776C>T	c.(775-777)tCc>tTc	p.S259F	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000332793.6_Silent_p.I460I|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	0						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAACTCATCCCCACTGTTC	0.458000													45	71					0	0	0.000589545	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064049	6064049	+	Missense_Mutation	SNP	C	C	A	rs146441068		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:6064049C>A	ENST00000409021.3	-	10	1999	c.1550G>T	c.(1549-1551)aGg>aTg	p.R517M	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R517M|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R352M|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R517M|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R332M	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	517	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGGGCCTCCCTCTCAGCGTC	0.667000													31	63					3.03874e-20	9.99634e-19	0.00058488	1	0
NAP1L2	4674	broad.mit.edu	37	X	72434151	72434151	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:72434151C>T	ENST00000373517.3	-	1	533	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	60					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCACCGTTTTCCCCTTCTTCC	0.582000													32	6					0	0	0.000279167	0	0
KIF21B	23046	broad.mit.edu	37	1	200969662	200969662	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:200969662G>A	ENST00000332129.2	-	11	1857	c.1541C>T	c.(1540-1542)cCc>cTc	p.P514L	KIF21B_ENST00000422435.2_Missense_Mutation_p.P514L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P514L|KIF21B_ENST00000461742.2_Missense_Mutation_p.P514L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	514					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGGGAGTAGGGGCTCCTAGC	0.662000													28	33					0	0	0.000184323	0	0
AGAP1	116987	broad.mit.edu	37	2	236715898	236715898	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr2:236715898G>A	ENST00000409538.1	+	9	2264	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N	AGAP1_ENST00000409457.1_Missense_Mutation_p.D325N|AGAP1_ENST00000428334.2_Missense_Mutation_p.D164N|AGAP1_ENST00000304032.7_Missense_Mutation_p.D325N|AGAP1_ENST00000336665.5_Missense_Mutation_p.D325N			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	325					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAAAGGGAGCGACCCAGACAA	0.567000													57	13					0	0	0.000147903	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318660	21318660	+	Silent	SNP	C	C	T	rs148939916	byFrequency	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:21318660C>T	ENST00000583088.1	+	3	901	c.6C>T	c.(4-6)acC>acT	p.T2T	KCNJ12_ENST00000331718.5_Silent_p.T2T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCGGGATGACCGCGGCCAGCC	0.697000										Prostate(3;0.18)			9	23					0	0	0.000274275	0	0
NOX1	27035	broad.mit.edu	37	X	100105231	100105231	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:100105231C>T	ENST00000372966.3	-	9	1247	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.E311K|NOX1_ENST00000217885.5_Missense_Mutation_p.E348K	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	348	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AAGAAATCTTCCTCTGGAGCA	0.468000													36	7					0	0	0.000191422	0	0
PSMC2	5701	broad.mit.edu	37	7	103008169	103008169	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:103008169C>T	ENST00000435765.1	+	12	1468	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.H216Y|PSMC2_ENST00000292644.3_Missense_Mutation_p.H353Y	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	353					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GGGTCGGACCCACATATTTAA	0.333000													31	46					0	0	0.000279167	0	0
CD53	963	broad.mit.edu	37	1	111437611	111437611	+	Silent	SNP	C	C	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:111437611C>A	ENST00000271324.5	+	5	469	c.357C>A	c.(355-357)acC>acA	p.T119T	CD53_ENST00000429072.2_Intron|CD53_ENST00000497404.1_3'UTR	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	119					signal transduction	integral to membrane|plasma membrane		p.T119T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		AGGGTCTGACCGACAGCATCC	0.507000													36	66					1.67305e-13	5.37267e-12	0.000228196	1	0
SNHG14	104472715	broad.mit.edu	37	15	25304834	25304834	+	RNA	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr15:25304834C>T	ENST00000549804.2	+	0	227																											TCCACTAGTCCCTATAGGTTC	0.522000													16	6					0	0	0.000308642	0	0
OR51V1	283111	broad.mit.edu	37	11	5221880	5221880	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:5221880C>T	ENST00000321255.1	-	1	50	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T17T(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGAATTCGTGCTGGTGC	0.428000													27	34					0	0	9.22233e-05	0	0
LRRN2	10446	broad.mit.edu	37	1	204588913	204588913	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:204588913C>T	ENST00000367175.1	-	1	2420	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	LRRN2_ENST00000367177.3_Missense_Mutation_p.G70S|LRRN2_ENST00000367176.3_Missense_Mutation_p.G70S			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	70					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTCTGTGTGCCTGCGGGGAGT	0.627000													36	52					0	0	0.000191422	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764565	138764565	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:138764565C>T	ENST00000242351.5	-	4	1438	c.1122G>A	c.(1120-1122)aaG>aaA	p.K374K	ZC3HAV1_ENST00000464606.1_Silent_p.K374K|ZC3HAV1_ENST00000471652.1_Silent_p.K374K	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	374					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAAACACAGTCTTTCTCCTGG	0.542000													53	67					0	0	0.000147903	0	0
MMP2	4313	broad.mit.edu	37	16	55522457	55522457	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:55522457C>T	ENST00000219070.4	+	6	1344	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	MMP2_ENST00000543485.1_Silent_p.L203L|MMP2_ENST00000570308.1_Silent_p.L203L|MMP2_ENST00000437642.2_Silent_p.L229L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	279	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ACCCTTAGCCCTGTTCACCAT	0.602000													8	12					0	0	0.000274275	0	0
OR2L3	391192	broad.mit.edu	37	1	248224777	248224777	+	Missense_Mutation	SNP	G	G	A	rs148776094		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:248224777G>A	ENST00000359959.3	+	1	794	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265Q(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGATCCCTGCGATCTCCAACA	0.507000													33	77					0	0	0.000159656	0	0
ZNF408	79797	broad.mit.edu	37	11	46726807	46726807	+	Silent	SNP	C	C	A	rs148867575		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:46726807C>A	ENST00000311764.2	+	5	1787	c.1557C>A	c.(1555-1557)acC>acA	p.T519T		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCTCCACACCGGGGAGCGTC	0.637000													36	33					2.28855e-06	7.22029e-05	0.000132358	1	0
MUC5B	727897	broad.mit.edu	37	11	1273675	1273675	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:1273675C>T	ENST00000447027.1	+	32	15033	c.14975C>T	c.(14974-14976)tCc>tTc	p.S4992F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4989F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4989					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTCCCACCTCCCCACCGCCA	0.652000													28	21					0	0	9.22233e-05	0	0
RPL8	6132	broad.mit.edu	37	8	146017189	146017189	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:146017189G>A	ENST00000262584.3	-	3	481	c.249C>T	c.(247-249)caC>caT	p.H83H	RPL8_ENST00000527914.1_Intron|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000394920.2_Silent_p.H83H|RPL8_ENST00000528957.1_Silent_p.H83H	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	83					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		ACTGGCCCGTGTGAATGCCCT	0.637000													103	55					0	0	0.000147903	0	0
GK2	2712	broad.mit.edu	37	4	80328222	80328222	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:80328222C>T	ENST00000358842.3	-	1	1150	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	378					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACAGAGTATCCCTCTTGCACT	0.423000													38	55					0	0	0.000228196	0	0
MANSC1	54682	broad.mit.edu	37	12	12496107	12496107	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:12496107C>T	ENST00000535902.1	-	2	705	c.142G>A	c.(142-144)Gga>Aga	p.G48R	MANSC1_ENST00000396349.3_Splice_Site_p.G14_splice			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	48	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCTCTGATTCCCTTAGAAAGA	0.383000													39	65					0	0	0.000191422	0	0
GALNT1	2589	broad.mit.edu	37	18	33257586	33257586	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr18:33257586C>T	ENST00000269195.5	+	3	449	c.346C>T	c.(346-348)Cct>Tct	p.P116S	GALNT1_ENST00000537549.1_Missense_Mutation_p.P56S	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	116	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						AGATAATCTTCCTACAACAAG	0.388000													48	20					0	0	0.000147903	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213851	42213851	+	Missense_Mutation	SNP	C	C	T	rs150911810	byFrequency	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:42213851C>T	ENST00000221992.6	+	2	431	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CEA_ENST00000598976.1_Missense_Mutation_p.S106F|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S106F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S106F	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	106	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCAATGCATCCCTGCTGATC	0.468000													74	95					0	0	0.000147903	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390507	61390507	+	RNA	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr18:61390507G>A	ENST00000544088.1	+	0	1115				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAGCCACTGGGGACAGCATCG	0.498000													35	6					0	0	0.00058488	0	0
CENPE	1062	broad.mit.edu	37	4	104063010	104063010	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:104063010T>C	ENST00000265148.3	-	35	5449	c.5360A>G	c.(5359-5361)cAg>cGg	p.Q1787R	CENPE_ENST00000380026.3_Missense_Mutation_p.Q1762R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1787					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AATAGTTTCCTGCTGCTCTTT	0.299000													31	27					0	0	0.000109025	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984786	90984786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr15:90984786C>T	ENST00000268182.5	+	8	822	c.698C>T	c.(697-699)cCa>cTa	p.P233L	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	233					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CGTAGAATTCCAGCCGACACA	0.363000													35	32					0	0	0.000132358	0	0
PSEN2	5664	broad.mit.edu	37	1	227083261	227083261	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:227083261C>T	ENST00000366782.1	+	13	1927	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	PSEN2_ENST00000366783.3_Missense_Mutation_p.S443F|PSEN2_ENST00000472139.2_Missense_Mutation_p.S299F|PSEN2_ENST00000340188.4_Missense_Mutation_p.S410F|PSEN2_ENST00000422240.2_Missense_Mutation_p.S442F|PSEN2_ENST00000391872.2_Missense_Mutation_p.S476F			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	443					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				ACCCTGGCCTCCCATCAGCTC	0.542000													12	11					0	0	6.40141e-05	0	0
TRPC4	7223	broad.mit.edu	37	13	38237678	38237678	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr13:38237678G>A	ENST00000379705.3	-	6	2420	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	TRPC4_ENST00000358477.2_Silent_p.F521F|TRPC4_ENST00000447043.1_Silent_p.F521F|TRPC4_ENST00000379673.2_Silent_p.F521F|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379681.3_Silent_p.F521F|TRPC4_ENST00000379679.1_Silent_p.F348F|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Silent_p.F348F|TRPC4_ENST00000355779.2_Silent_p.F521F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	521					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCAGTATATGAATAGAAACT	0.403000													18	39					0	0	0.000132079	0	0
COL4A2	1284	broad.mit.edu	37	13	111147731	111147731	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr13:111147731G>A	ENST00000360467.5	+	40	3983	c.3677G>A	c.(3676-3678)gGg>gAg	p.G1226E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1226	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCCCTCCTGGGGAAAGAGGT	0.567000													29	51					0	0	0.000117367	0	0
CFI	3426	broad.mit.edu	37	4	110662164	110662164	+	Missense_Mutation	SNP	C	C	A	rs121964915		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:110662164C>A	ENST00000394634.2	-	13	1844	c.1637G>T	c.(1636-1638)tGg>tTg	p.W546L	CFI_ENST00000512148.1_Missense_Mutation_p.W539L|CFI_ENST00000394635.3_Missense_Mutation_p.W554L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	546	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GTTTTCCCCCCAACTCACAAC	0.458000													120	172					7.61515e-48	2.56773e-46	0.000147903	1	0
GCK	2645	broad.mit.edu	37	7	44189377	44189377	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:44189377C>T	ENST00000403799.3	-	6	1130	c.661G>A	c.(661-663)Gag>Aag	p.E221K	GCK_ENST00000395796.3_Missense_Mutation_p.E220K|GCK_ENST00000437084.1_Missense_Mutation_p.E204K|GCK_ENST00000345378.2_Missense_Mutation_p.E222K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	221			E -> K (in MODY2).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ATGCCGACCTCGCACTGATGG	0.567000													141	239					0	0	0.000147903	0	0
LRRC28	123355	broad.mit.edu	37	15	99828120	99828120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr15:99828120C>T	ENST00000301981.3	+	5	589	c.349C>T	c.(349-351)Cga>Tga	p.R117*	LRRC28_ENST00000442993.2_Nonsense_Mutation_p.R117*|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Nonsense_Mutation_p.R117*|LRRC28_ENST00000422500.2_Nonsense_Mutation_p.R117*|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	117										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			ACGTCATCTTCGATTAGCTAA	0.373000													33	60					0	0	0.00058488	0	0
HIF3A	64344	broad.mit.edu	37	19	46823707	46823707	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:46823707G>A	ENST00000339613.2	+	9	1120	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	HIF3A_ENST00000300862.3_Missense_Mutation_p.E343K|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.E276K|HIF3A_ENST00000420102.2_Missense_Mutation_p.E294K|HIF3A_ENST00000472815.1_Missense_Mutation_p.E276K|HIF3A_ENST00000600383.1_Missense_Mutation_p.E276K|HIF3A_ENST00000377670.4_Missense_Mutation_p.E345K			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	345	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CAGCCAGGTGGAAGAGACCGG	0.607000													31	53					0	0	0.000109025	0	0
CHMP4C	92421	broad.mit.edu	37	8	82645023	82645023	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:82645023C>T	ENST00000297265.4	+	1	355	c.162C>T	c.(160-162)gcC>gcT	p.A54A		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	54	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TCGCCCTGGCCAAGAAGCACG	0.602000													13	14					0	0	0.000219431	0	0
SALL4	57167	broad.mit.edu	37	20	50406909	50406909	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:50406909A>T	ENST00000217086.4	-	2	2224	c.2113T>A	c.(2113-2115)Tcc>Acc	p.S705T	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	705					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						ACCTTGGAGGAGCTGCTGGGA	0.597000													18	31					0	0	0.000175454	0	0
PTEN	5728	broad.mit.edu	37	10	89692922	89692922	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr10:89692922T>C	ENST00000371953.3	+	5	1763	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		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.?(5)|p.R55fs*1(5)|p.C136R(4)|p.I135fs*44(3)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(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)		TGTAATGATATGTGCATATTT	0.388000		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)			40	13					0	0	0.000270559	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				20	51					0	0	0.000132079	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668443	71668443	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:71668443G>A	ENST00000268485.3	+	3	987	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	315	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCTCATCGCGGGGGGGTACAT	0.582000													21	29					0	0	0.000295444	0	0
ABCB1	5243	broad.mit.edu	37	7	87144604	87144604	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr7:87144604C>T	ENST00000265724.3	-	26	3642	c.3225G>A	c.(3223-3225)ggG>ggA	p.G1075G	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.G1011G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1075	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTGTGCTCTTCCCACAGCCAC	0.572000													18	40					0	0	0.000566183	0	0
HYDIN	54768	broad.mit.edu	37	16	70891730	70891730	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:70891730G>A	ENST00000393567.2	-	72	12323	c.12173C>T	c.(12172-12174)tCa>tTa	p.S4058L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4058										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTCCATGATGACTCAGTGAT	0.463000													5	42					0	0	3.86212e-05	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995638	140995638	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:140995638C>T	ENST00000285879.4	+	4	2734	c.2448C>T	c.(2446-2448)tcC>tcT	p.S816S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	816							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAGCTCCTTCCCCTCCT	0.552000										HNSCC(15;0.026)			128	34					0	0	0.000147903	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501747	140501747	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr5:140501747G>A	ENST00000194152.1	+	1	167	c.167G>A	c.(166-168)gGg>gAg	p.G56E		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		56	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGGAATTGGGGAACTGGCC	0.557000													18	9					0	0	0.000175454	0	0
LRBA	987	broad.mit.edu	37	4	151850033	151850033	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:151850033A>G	ENST00000535741.1	-	3	874	c.401T>C	c.(400-402)gTt>gCt	p.V134A	LRBA_ENST00000507224.1_Missense_Mutation_p.V134A|LRBA_ENST00000510413.1_Missense_Mutation_p.V134A|LRBA_ENST00000357115.3_Missense_Mutation_p.V134A			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	134						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACTTTTTCAACAAGGCCTAC	0.348000													32	71					0	0	0.000132358	0	0
VWA7	80737	broad.mit.edu	37	6	31744326	31744326	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:31744326G>A	ENST00000375686.3	-	2	468	c.231C>T	c.(229-231)ttC>ttT	p.F77F	VWA7_ENST00000375688.4_Silent_p.F77F|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Silent_p.F77F	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	77						extracellular region											TGCTCACCAGGAAGTCCTCAA	0.622000													107	103					0	0	0.000147903	0	0
UNC5D	137970	broad.mit.edu	37	8	35647892	35647892	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:35647892C>T	ENST00000287272.2	+	16	2486	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	UNC5D_ENST00000416672.1_Silent_p.F896F|UNC5D_ENST00000420357.1_Silent_p.F824F|UNC5D_ENST00000449677.1_Silent_p.F467F|UNC5D_ENST00000404895.2_Silent_p.F891F|UNC5D_ENST00000453357.2_Silent_p.F886F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	891					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TATCTTATTTCGCTACACAAA	0.393000													41	55					0	0	0.000509022	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066862	46066862	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr21:46066862G>A	ENST00000334670.8	+	1	532	c.487G>A	c.(487-489)Gag>Aag	p.E163K	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	157	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CACCTGCTCTGAGGATTCCTC	0.627000													65	92					0	0	0.000147903	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14850212	14850212	+	Splice_Site	SNP	G	G	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr18:14850212G>T	ENST00000358984.4	+	35	3218		c.e35-1			NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B											breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTTAATGGCAGATTGACTTTA	0.269000													5	1					3.59834e-05	0.00112866	3.59834e-05	1	0
COLGALT1	79709	broad.mit.edu	37	19	17678331	17678331	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:17678331G>C	ENST00000252599.4	+	4	726	c.606G>C	c.(604-606)tgG>tgC	p.W202C	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		CCAACTTCTGGTGTGGAATGA	0.592000													5	19					0	0	3.59834e-05	0	0
CORO1A	11151	broad.mit.edu	37	16	30199304	30199304	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:30199304C>T	ENST00000219150.5	+	8	1208	c.903C>T	c.(901-903)gcC>gcT	p.A301A	CORO1A_ENST00000565497.1_Silent_p.A301A|CORO1A_ENST00000570045.1_Silent_p.A301A	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	301					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CTTCCGAGGCCCCTTTCCTGC	0.587000													39	62					0	0	0.000319135	0	0
NHSL2	340527	broad.mit.edu	37	X	71358756	71358756	+	Missense_Mutation	SNP	G	G	A	rs138787811	byFrequency	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:71358756G>A	ENST00000373677.1	+	2	1522	c.260G>A	c.(259-261)gGg>gAg	p.G87E	NHSL2_ENST00000535692.1_Missense_Mutation_p.G87E|NHSL2_ENST00000540800.1_Missense_Mutation_p.G453E|NHSL2_ENST00000510661.1_Missense_Mutation_p.G222E			F5H593	F5H593_HUMAN	NHS-like 2	453										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GGATGCAGTGGGTCAGCTGGC	0.557000													13	3					0	0	0.00010058	0	0
TMEM225	338661	broad.mit.edu	37	11	123755980	123755980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:123755980C>T	ENST00000375026.2	-	1	369	c.153G>A	c.(151-153)atG>atA	p.M51I		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	51						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGCAACACATCATCCAAGGAC	0.458000													26	57					0	0	0.000586117	0	0
TTC17	55761	broad.mit.edu	37	11	43471746	43471746	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:43471746C>T	ENST00000039989.4	+	20	2915	c.2901C>T	c.(2899-2901)tcC>tcT	p.S967S		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	967							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATGGGGTTTCCAACCGAGCCA	0.517000													13	39					0	0	0.000219431	0	0
GYS1	2997	broad.mit.edu	37	19	49477944	49477944	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:49477944G>A	ENST00000323798.3	-	11	1551	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	GYS1_ENST00000544287.1_Missense_Mutation_p.S85F|GYS1_ENST00000541188.1_Missense_Mutation_p.S372F|GYS1_ENST00000263276.6_Missense_Mutation_p.S388F|GYS1_ENST00000540532.1_3'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	452					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGGGTCTGAGGAGTCATCCAG	0.587000													24	41					0	0	0.000117367	0	0
ZNF488	118738	broad.mit.edu	37	10	48370853	48370853	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr10:48370853G>A	ENST00000494156.1	+	3	365	c.215G>A	c.(214-216)gGa>gAa	p.G72E	ZNF488_ENST00000586537.1_De_novo_Start_InFrame|ZNF488_ENST00000395702.2_Silent_p.R107R	NM_153034.2	NP_694579.1	Q96MN9	ZN488_HUMAN	zinc finger protein 488	0			A -> V (in dbSNP:rs35618062).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGCTGCCGAGGATGAAGGACC	0.662000													12	2					0	0	6.40141e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	40980729	40980729	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:40980729A>T	ENST00000373198.3	-	10	1992	c.1757T>A	c.(1756-1758)aTt>aAt	p.I586N	PTPRT_ENST00000373187.1_Missense_Mutation_p.I586N|PTPRT_ENST00000356100.2_Missense_Mutation_p.I586N|PTPRT_ENST00000373201.1_Missense_Mutation_p.I586N|PTPRT_ENST00000373184.1_Missense_Mutation_p.I586N|PTPRT_ENST00000373193.3_Missense_Mutation_p.I586N|PTPRT_ENST00000373190.1_Missense_Mutation_p.I586N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	586					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATACCTGAAATTTTGGTGGC	0.473000													34	49					0	0	0.00058488	0	0
CRISP2	7180	broad.mit.edu	37	6	49665657	49665657	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:49665657G>A	ENST00000339139.4	-	8	667	c.431C>T	c.(430-432)tCg>tTg	p.S144L		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	144						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGGTAAGTCGAGTACCAAAC	0.313000													38	62					0	0	0.000374591	0	0
ZNF418	147686	broad.mit.edu	37	19	58437712	58437712	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:58437712G>A	ENST00000396147.1	-	4	2128	c.1837C>T	c.(1837-1839)Cat>Tat	p.H613Y	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.H528Y|ZNF418_ENST00000425570.3_Missense_Mutation_p.H634Y|ZNF418_ENST00000595830.1_Missense_Mutation_p.H613Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H613N(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCTCGAGTATGAAGTCTCTGA	0.453000													39	62					0	0	0.000191422	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719558	162719558	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr2:162719558C>T	ENST00000375514.5	+	7	1072	c.785C>T	c.(784-786)tCc>tTc	p.S262F	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.S251F|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S251F|SLC4A10_ENST00000415876.2_Missense_Mutation_p.S251F|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S251F|SLC4A10_ENST00000446997.1_Missense_Mutation_p.S251F	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	251					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAACCAAATTCCATGGACAAA	0.338000													31	12					0	0	0.000339439	0	0
ABCC5	10057	broad.mit.edu	37	3	183679345	183679345	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:183679345G>A	ENST00000334444.6	-	16	2573	c.2333C>T	c.(2332-2334)gCt>gTt	p.A778V	ABCC5_ENST00000265586.6_Missense_Mutation_p.A778V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	778	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAAAATGGTAGCATAGTCACC	0.458000													27	44					0	0	0.000586117	0	0
COL1A1	1277	broad.mit.edu	37	17	48263002	48263002	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:48263002G>A	ENST00000225964.5	-	51	4374	c.4256C>T	c.(4255-4257)aCc>aTc	p.T1419I		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1419	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCAGGCTCCGGTGTGACTCTG	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						26	23					0	0	9.22233e-05	0	0
PCSK5	5125	broad.mit.edu	37	9	78938053	78938053	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr9:78938053C>T	ENST00000545128.1	+	31	4645	c.4107C>T	c.(4105-4107)gtC>gtT	p.V1369V		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	634					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCACTGTGTCCCCTGCCATA	0.572000													13	2					0	0	0.000151284	0	0
UBBP4	23666	broad.mit.edu	37	17	21731529	21731529	+	Silent	SNP	T	T	C			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:21731529T>C	ENST00000578713.1	+	2	608	c.604T>C	c.(604-606)Ttg>Ctg	p.L202L	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGGCAAGAAGTTGGAAGATGG	0.542000													20	22					0	0	0.000229342	0	0
PARP4	143	broad.mit.edu	37	13	25044068	25044068	+	Silent	SNP	G	G	A	rs146166448	by1000genomes	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr13:25044068G>A	ENST00000381989.3	-	16	2115	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	670	VIT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGGCTTCGAAGCCACACA	0.458000													23	27					0	0	0.000184323	0	0
EPPK1	83481	broad.mit.edu	37	8	144940332	144940332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:144940332G>A	ENST00000525985.1	-	2	7161	c.7090C>T	c.(7090-7092)Cgg>Tgg	p.R2364W				P58107	EPIPL_HUMAN	epiplakin 1	2364						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCCGCGCCGGTAGGCCACG	0.692000													19	564					0	0	9.22233e-05	0	0
ATP11A	23250	broad.mit.edu	37	13	113508685	113508685	+	Missense_Mutation	SNP	C	C	T	rs139917817		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr13:113508685C>T	ENST00000487903.1	+	19	2172	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V	ATP11A_ENST00000375645.3_Missense_Mutation_p.A695V|ATP11A_ENST00000375630.2_Missense_Mutation_p.A695V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A695V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	695					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GAGACGGCCGCGGCCACGTGC	0.622000													6	43					0	0	3.59834e-05	0	0
ATP9A	10079	broad.mit.edu	37	20	50286611	50286611	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr20:50286611G>A	ENST00000338821.5	-	13	1482	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	ATP9A_ENST00000402822.1_Silent_p.L285L|ATP9A_ENST00000311637.5_Silent_p.L270L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	406					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCCGAGATGGAGCCGTTTGA	0.453000													41	67					0	0	0.000509022	0	0
PRMT8	56341	broad.mit.edu	37	12	3600829	3600829	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:3600829G>A	ENST00000382622.3	+	1	428	c.38G>A	c.(37-39)aGg>aAg	p.R13K	PRMT8_ENST00000452611.2_Intron	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	13					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTGCTCCTGAGGAGGAAAATG	0.647000													16	28					0	0	7.07596e-05	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282557	69282557	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:69282557G>A	ENST00000338352.2	+	1	217	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	61										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGCACCGGCAGGAGCTGGAGA	0.557000													9	5					0	0	3.86212e-05	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296431	39296431	+	Silent	SNP	A	A	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr17:39296431A>G	ENST00000345847.4	-	1	308	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	99	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GACGGCAGCAAGTGGGCTGGC	0.652000													4	56					0	0	3.59834e-05	0	0
PEAR1	375033	broad.mit.edu	37	1	156873722	156873722	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:156873722T>A	ENST00000338302.3	+	3	229	c.4T>A	c.(4-6)Tca>Aca	p.S2T	PEAR1_ENST00000292357.7_Missense_Mutation_p.S2T			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	2						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTGCAATGTCACCGCCTCT	0.637000													49	80					0	0	0.000147903	0	0
OR5K3	403277	broad.mit.edu	37	3	98110314	98110314	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr3:98110314G>A	ENST00000383695.1	+	1	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AGGGGATAAAGATATACCTGT	0.299000													25	5					0	0	0.000375601	0	0
ZNF215	7762	broad.mit.edu	37	11	6953610	6953610	+	Missense_Mutation	SNP	A	A	G	rs11041107	byFrequency	TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr11:6953610A>G	ENST00000278319.5	+	3	695	c.107A>G	c.(106-108)aAc>aGc	p.N36S	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.N36S|ZNF215_ENST00000529903.1_Missense_Mutation_p.N36S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	36			N -> S (in dbSNP:rs11041107).		viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAGGAAACCAACCCCGTCGTG	0.493000													29	67					0	0	0.000184323	0	0
GBP6	163351	broad.mit.edu	37	1	89846141	89846141	+	Silent	SNP	T	T	G			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:89846141T>G	ENST00000370456.4	+	6	915	c.822T>G	c.(820-822)acT>acG	p.T274T	GBP6_ENST00000535065.1_Silent_p.T144T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	274							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACATCTTCACTCATGCAAGAA	0.418000													20	14					0	0	0.000175454	0	0
CYP4F3	4051	broad.mit.edu	37	19	15757879	15757879	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:15757879G>A	ENST00000221307.7	+	4	409	c.361G>A	c.(361-363)Gac>Aac	p.D121N	CYP4F3_ENST00000591058.1_Missense_Mutation_p.D121N|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D121N|CYP4F3_ENST00000586182.1_Missense_Mutation_p.D121N	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	121					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGTACCAAAGGACAAGGTCTT	0.577000													36	41					0	0	0.000319135	0	0
CXorf22	170063	broad.mit.edu	37	X	35985897	35985897	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chrX:35985897C>T	ENST00000297866.5	+	10	1828	c.1762C>T	c.(1762-1764)Ccc>Tcc	p.P588S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	588										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTAGCCTTTCCCAATGACCG	0.403000													13	4					0	0	0.000422831	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992777	66992777	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr8:66992777G>A	ENST00000276570.5	+	5	786	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	167					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GTCTGACATGGAAAAAGGTGG	0.542000													4	10					0	0	1.23904e-05	0	0
KDR	3791	broad.mit.edu	37	4	55956162	55956162	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr4:55956162C>T	ENST00000263923.4	-	23	3448	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1051	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATAAATATCCCGGGCCAAGC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			38	49					0	0	0.000132358	0	0
GRM1	2911	broad.mit.edu	37	6	146625858	146625858	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr6:146625858C>T	ENST00000392299.2	+	4	1532	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	GRM1_ENST00000507907.1_Silent_p.F354F|GRM1_ENST00000355289.4_Silent_p.F354F|GRM1_ENST00000492807.2_Silent_p.F354F|GRM1_ENST00000361719.2_Silent_p.F354F|GRM1_ENST00000282753.1_Silent_p.F354F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	354					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATGATTATTTCCTGAAACTGA	0.498000													30	12					0	0	0.000227799	0	0
LRFN1	57622	broad.mit.edu	37	19	39805548	39805548	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:39805548G>A	ENST00000248668.4	-	1	428	c.429C>T	c.(427-429)atC>atT	p.I143I	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	143						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTTTCCAAGGATCAGGTGGC	0.687000													7	11					0	0	8.12818e-05	0	0
CRYM	1428	broad.mit.edu	37	16	21273402	21273402	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr16:21273402G>T	ENST00000219599.3	-	8	1016	c.751C>A	c.(751-753)Cag>Aag	p.Q251K	CRYM_ENST00000396023.2_Missense_Mutation_p.Q251K|CRYM_ENST00000415987.2_Missense_Mutation_p.Q209K|CRYM_ENST00000543948.1_Missense_Mutation_p.Q251K	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	251					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	GCAGCCTCCTGGGAATCCACG	0.577000													23	28					6.21321e-17	2.03153e-15	0.000375601	1	0
MUC16	94025	broad.mit.edu	37	19	9074565	9074565	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr19:9074565G>A	ENST00000397910.4	-	3	13084	c.12881C>T	c.(12880-12882)tCc>tTc	p.S4294F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4296	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGTCTCGGAGGAGCCAAA	0.527000													23	31					0	0	0.000375601	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501748	140501748	+	Silent	SNP	G	G	A			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr5:140501748G>A	ENST00000194152.1	+	1	168	c.168G>A	c.(166-168)ggG>ggA	p.G56G		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		56	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGAATTGGGGAACTGGCCT	0.562000													18	9					0	0	0.000175454	0	0
NCAPD2	9918	broad.mit.edu	37	12	6636085	6636085	+	Silent	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:6636085C>T	ENST00000315579.5	+	22	3562	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	NCAPD2_ENST00000545962.1_Silent_p.F876F|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	921					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCCCCACTTTCCTGTTGATGA	0.572000													44	63					0	0	0.000589545	0	0
SERPINA3	12	broad.mit.edu	37	14	95088748	95088748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:95088748C>T	ENST00000553947.1	+	7	1951	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.Q330*|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.Q330*|SERPINA3_ENST00000467132.1_Nonsense_Mutation_p.Q330*|SERPINA3_ENST00000482740.1_Nonsense_Mutation_p.Q112*			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	330					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATACTTCTCCAGCTGGGCAT	0.488000													27	42					0	0	0.000227799	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													8	11	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													7	113	---	---	---	---					
VRK2	7444	broad.mit.edu	37	2	58312026	58312026	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr2:58312026delA	ENST00000435505.2	+	7	942	c.197delA	c.(196-198)gafs	p.E66fs	VRK2_ENST00000340157.4_Frame_Shift_Del_p.E66fs|VRK2_ENST00000412104.2_Frame_Shift_Del_p.E66fs|VRK2_ENST00000417641.2_Frame_Shift_Del_p.E66fs|VRK2_ENST00000440705.2_Frame_Shift_Del_p.E43fs			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	66	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GAATATCAAGAAAATGGCCCG	0.259													2	4	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													4	7	---	---	---	---					
HEATR5A	25938	broad.mit.edu	37	14	31852869	31852869	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:31852869delG	ENST00000543095.2	-	10	1638	c.1454delC	c.(1453-1455)aafs	p.T485fs	HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.T192fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.T485fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.T479fs|HEATR5A_ENST00000389961.3_Frame_Shift_Del_p.T479fs	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	479							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAAGAGTGGTGTTAGGTAGGA	0.473													77	120	---	---	---	---					
PNN	5411	broad.mit.edu	37	14	39646845	39646866	+	Frame_Shift_Del	DEL	AGAGACCTTATCCAGGATCAAA	AGAGACCTTATCCAGGATCAAA	-			TCGA-D3-A3C6-06A-12D-A196-08	TCGA-D3-A3C6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68c70f-084b-4ecb-8a4d-3c09d20ac726	a101f798-16cc-46db-95d4-aa9850f9757e	g.chr14:39646845_39646866delAGAGACCTTATCCAGGATCAAA	ENST00000216832.4	+	5	443_464	c.376_397delAGAGACCTTATCCAGGATCAAA	c.(376-399)atfs	p.RDLIQDQN126fs	PNN_ENST00000556530.1_3'UTR|PNN_ENST00000553331.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	126	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GCGCACACGTAGAGACCTTATCCAGGATCAAAATATGGATGA	0.401													27	140	---	---	---	---					
