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
EPB42	2038	broad.mit.edu	37	15	43507486	43507486	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43507486G>T	ENST00000300215.3	-	3	784	c.327C>A	c.(325-327)ttC>ttA	p.F109L	EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Missense_Mutation_p.F79L			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	79					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAATTGGGAATGTGGCTT	0.542000													11	99					0.00136819	0.00145029	1	1	0
PLEKHH3	79990	broad.mit.edu	37	17	40821536	40821536	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:40821536T>A	ENST00000293349.6	-	12	2538	c.2108A>T	c.(2107-2109)tAt>tTt	p.Y703F	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	706	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACATGGCCATAGCTGACACT	0.667000													4	38					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49129075	49129075	+	Silent	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:49129075C>A	ENST00000443164.1	+	1	858	c.153C>A	c.(151-153)tcC>tcA	p.S51S	SPHK2_ENST00000598088.1_Intron|SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000599033.1_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	434	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCTCCTGTCCACAGCCCCTG	0.627000													2	2					1	1	1	1	0
LARS	51520	broad.mit.edu	37	5	145493811	145493811	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:145493811A>C	ENST00000394434.2	-	32	3555	c.3389T>G	c.(3388-3390)gTc>gGc	p.V1130G	RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G|LARS_ENST00000274562.9_Missense_Mutation_p.V1103G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1130					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCCCAGGACAGGAACTCG	0.408000													27	71					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455562	5455562	+	Silent	SNP	G	G	A	rs147873454	by1000genomes	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:5455562G>A	ENST00000222033.4	+	1	137	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	20						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGGCCGCGTCACTGCCTC	0.662000													6	61					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25226288	25226288	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:25226288C>T	ENST00000320152.6	-	3	192	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R55Q|PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R55Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	55					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CTTGGCCAGCCGCTCAATTCT	0.368000													3	48					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133990	21133990	+	Missense_Mutation	SNP	C	C	A	rs144089172		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr22:21133990C>A	ENST00000215727.5	+	2	673	c.390C>A	c.(388-390)aaC>aaA	p.N130K	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.N130K	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACATCCTCAACGCCAAGTTCG	0.498000													14	58					0.000308642	0.000333837	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177930014	177930014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:177930014C>T	ENST00000308284.6	-	7	937	c.848G>A	c.(847-849)aGt>aAt	p.S283N	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.S283N|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.S284N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	283					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCCGAAACTCACAGGAAC	0.532000													5	40					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846330	47846330	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:47846330G>A	ENST00000339488.4	-	3	2283	c.2250C>T	c.(2248-2250)agC>agT	p.S750S		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	750						integral to membrane	hedgehog receptor activity										CTTGCAAGGAGCTTTTTATAC	0.433000													9	23					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	176001149	176001149	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:176001149T>A	ENST00000264110.2	-	3	321	c.23A>T	c.(22-24)aAt>aTt	p.N8I	ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	8					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CCTGGCAGAATTCACATGTAA	0.284000													11	144					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60164141	60164141	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr11:60164141T>C	ENST00000300187.6	+	1	367	c.90T>C	c.(88-90)ccT>ccC	p.P30P	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531783.1_Silent_p.P30P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	30						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTACAGACCTCATAGCTCTC	0.458000													3	32					0	0	1	0	0
METTL23	124512	broad.mit.edu	37	17	74729679	74729679	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:74729679G>A	ENST00000341249.6	+	5	816	c.484G>A	c.(484-486)Gca>Aca	p.A162T	METTL23_ENST00000588302.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	162						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						GTCTTTTGATGCAGACAAAGA	0.373000													54	119					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153135593	153135593	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:153135593G>A	ENST00000370060.1	-	9	1098	c.909C>T	c.(907-909)ggC>ggT	p.G303G	L1CAM_ENST00000370055.1_Silent_p.G298G|L1CAM_ENST00000370057.3_Silent_p.G303G|L1CAM_ENST00000361699.4_Silent_p.G303G|L1CAM_ENST00000361981.3_Silent_p.G298G|L1CAM_ENST00000543994.1_Silent_p.G305G|L1CAM_ENST00000538883.1_Silent_p.G305G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	303	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCCTCCTCGCCCACTTTCA	0.632000													47	126					0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56447021	56447021	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:56447021T>C	ENST00000295645.4	-	3	287	c.185A>G	c.(184-186)gAt>gGt	p.D62G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	62				D -> N (in Ref. 3; AAH34431).						endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			ATCTTCTTCATCAAATTCATC	0.269000													3	9					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203383680	203383680	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:203383680G>C	ENST00000374580.4	+	6	1296	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	253	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCCTTTGATGGAACATGACAA	0.423000													39	109					0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804993	115804993	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:115804993G>A	ENST00000369295.2	+	1	1188	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	368					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCTGGGCTACGCCAACTCGGC	0.672000													3	24					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43262758	43262758	+	Missense_Mutation	SNP	C	C	T	rs139296068		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43262758C>T	ENST00000290650.4	-	40	4495	c.4417G>A	c.(4417-4419)Gca>Aca	p.A1473T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1473					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAGAAGATGCGGAATGAGCC	0.353000													4	93					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866333	100866333	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:100866333C>T	ENST00000358544.2	+	56	10902	c.10791C>T	c.(10789-10791)gtC>gtT	p.V3597V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3597					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTGCTCGTCAGCATCCACG	0.537000													10	80					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58156417	58156417	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:58156417C>T	ENST00000295956.4	+	46	7902	c.7737C>T	c.(7735-7737)ggC>ggT	p.G2579G	FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000348383.5_Silent_p.G2538G|FLNB_ENST00000493452.1_Silent_p.G2386G|FLNB_ENST00000429972.2_Silent_p.G2568G|FLNB_ENST00000419752.2_Silent_p.G2399G|FLNB_ENST00000490882.1_Silent_p.G2610G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000358537.3_Silent_p.G2555G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2579	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGAGAGGGGCGATTATGTGC	0.542000													4	58					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76573856	76573856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:76573856G>A	ENST00000359707.4	-	9	1680	c.895C>T	c.(895-897)Cga>Tga	p.R299*	G3BP2_ENST00000395719.3_Nonsense_Mutation_p.R299*|G3BP2_ENST00000357854.3_Nonsense_Mutation_p.R266*	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	299					cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACCAGGTCGTTCTCTAGGT	0.398000													4	34					0	0	1	0	0
PCDHA8	0	broad.mit.edu	37	5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647000													13	76					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148004650	148004650	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:148004650T>C	ENST00000369219.1	-	22	2680	c.2664A>G	c.(2662-2664)gaA>gaG	p.E888E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	888	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGATATGCTCTTCCTCAAATG	0.433000													89	334					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94935560	94935560	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:94935560C>T	ENST00000396200.3	+	3	1624	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y|PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	425					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGAGACTATGCATAGGCAGGA	0.498000													7	120					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153579	105153579	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:105153579G>A	ENST00000428173.2	+	13	2252	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	NRK_ENST00000243300.9_Missense_Mutation_p.R649Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	649							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GACTTGCTTCGGGCACCAAAC	0.483000										HNSCC(51;0.14)			4	9					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118897516	118897516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:118897516C>A	ENST00000277905.2	-	1	296	c.52G>T	c.(52-54)Gct>Tct	p.A18S	VAX1_ENST00000369206.5_Missense_Mutation_p.A18S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	18						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		ACCCGGGCAGCCTCGGCGTCC	0.552000													8	88					0.00307968	0.00320045	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86488275	86488275	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:86488275C>A	ENST00000370571.2	-	17	2515		c.e17-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTTCACCCTGGAAAGCAC	0.328000													3	42					0.00909568	0.0092706	1	1	0
TENM1	10178	broad.mit.edu	37	X	123839059	123839059	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:123839059G>A	ENST00000422452.2	-	5	882	c.819C>T	c.(817-819)ttC>ttT	p.F273F	TENM1_ENST00000371130.3_Silent_p.F273F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGGCTGCACTGAAGATCGCAG	0.493000													45	25					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275921	159275921	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:159275921C>A	ENST00000368115.1	+	5	574	c.475C>A	c.(475-477)Cac>Aac	p.H159N	FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	159	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTATGAGAACCACAACATCTC	0.488000													22	74					3.83957e-06	4.42385e-06	1	1	0
COL25A1	84570	broad.mit.edu	37	4	109784483	109784483	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:109784483C>T	ENST00000399132.1	-	21	1674	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G382R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G378R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	382	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ACCTTTGGTCCGGGGGCTCCA	0.453000													12	30					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64949442	64949442	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:64949442A>C	ENST00000360270.5	+	4	507	c.335A>C	c.(334-336)aAt>aCt	p.N112T		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	112	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GGCATTCTCAATGATGATATT	0.498000			T	ALK	ALCL								17	14					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42747223	42747223	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr20:42747223C>A	ENST00000372980.3	-	3	2082	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	404	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGGGCGGCCTGTTCCGCT	0.607000													9	169					6.40141e-05	7.21861e-05	1	1	0
ZNF324	25799	broad.mit.edu	37	19	58982449	58982449	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:58982449C>T	ENST00000536459.2	+	4	1299	c.590C>T	c.(589-591)cCa>cTa	p.P197L	ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGGCAGAAACCATGTGCACAG	0.647000													3	48					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128726278	128726278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:128726278C>T	ENST00000296464.3	+	9	1447	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	HSPA4L_ENST00000439123.2_Nonsense_Mutation_p.R377*|HSPA4L_ENST00000508776.1_Nonsense_Mutation_p.R346*|HSPA4L_ENST00000505726.1_Nonsense_Mutation_p.R320*	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	346					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGGAGCAACACGAATTCCTGC	0.328000													9	23					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113949974	113949974	+	Missense_Mutation	SNP	C	C	T	rs146593284		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:113949974C>T	ENST00000245796.6	+	6	1841	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PSD4_ENST00000441564.2_Missense_Mutation_p.P521L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	549	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGGACACCGATGAACTCT	0.557000													25	211					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	47					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													3	43					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95376473	95376473	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:95376473G>A	ENST00000317968.4	+	2	170	c.34G>A	c.(34-36)Gct>Act	p.A12T	PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	12	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTGGCCCAGCTCCTTGGGG	0.403000													4	35					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:229771856C>T	ENST00000258243.2	+	4	1632	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	499						nucleolus		p.S499F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGGTACTCTCTGCATGCCTC	0.577000													41	117					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967187	64967187	+	Silent	SNP	T	T	G			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:64967187T>G	ENST00000399262.2	-	10	4460	c.4242A>C	c.(4240-4242)tcA>tcC	p.S1414S	JMJD1C_ENST00000399251.1_Silent_p.S1195S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000542921.1_Silent_p.S1232S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1414					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTACTTCTGAACCACCCC	0.408000													17	148					0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1370473	1370473	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr16:1370473C>T	ENST00000355803.4	+	6	919	c.368C>T	c.(367-369)cCa>cTa	p.P123L	UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	123					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTAAATGAACCAAATATCCAA	0.532000													6	93					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53531240	53531240	+	Silent	SNP	G	G	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:53531240G>C	ENST00000288139.3	+	2	247	c.129G>C	c.(127-129)ccG>ccC	p.P43P	CACNA1D_ENST00000422281.2_Silent_p.P43P|CACNA1D_ENST00000350061.5_Silent_p.P43P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	43					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTTCTCAGCCGAATAGCTCCA	0.488000													6	72					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10417120	10417120	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:10417120C>T	ENST00000397077.1	-	10	1850	c.1275G>A	c.(1273-1275)tcG>tcA	p.S425S	ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000360273.2_Silent_p.S470S|ATP2B2_ENST00000352432.4_Silent_p.S470S|ATP2B2_ENST00000343816.4_Silent_p.S456S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	470					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCACCTTCACCGAATAGGCCA	0.622000													8	48					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627925	170627925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:170627925C>T	ENST00000476287.1	+	2	1555	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	483					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAATCCAGGCAAGAAGTTTT	0.453000													9	200					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391533	49391533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr12:49391533C>T	ENST00000421952.2	-	2	1147	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	376	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGTTCTCCTTCTTTCCCTTCC	0.632000													15	43					0	0	1	0	0
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000531198.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418000													6	12					0.000157383	0.000173777	1	1	0
EPB42	2038	broad.mit.edu	37	15	43507486	43507486	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr15:43507486G>T	ENST00000300215.3	-	3	784	c.327C>A	c.(325-327)ttC>ttA	p.F109L	EPB42_ENST00000441366.2_Missense_Mutation_p.F79L|EPB42_ENST00000540029.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	79					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAATTGGGAATGTGGCTT	0.542000													11	99					0.00136819	0.00143494	1	1	0
PLEKHH3	79990	broad.mit.edu	37	17	40821536	40821536	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr17:40821536T>A	ENST00000293349.6	-	12	2538	c.2108A>T	c.(2107-2109)tAt>tTt	p.Y703F	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	706	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACATGGCCATAGCTGACACT	0.667000													4	38					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455562	5455562	+	Silent	SNP	G	G	A	rs147873454	by1000genomes	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr19:5455562G>A	ENST00000222033.4	+	1	137	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	20						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGGCCGCGTCACTGCCTC	0.662000													6	61					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25226288	25226288	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr10:25226288C>T	ENST00000320152.6	-	3	192	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R55Q|PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R55Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	55					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CTTGGCCAGCCGCTCAATTCT	0.368000													3	48					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133990	21133990	+	Missense_Mutation	SNP	C	C	A	rs144089172		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr22:21133990C>A	ENST00000215727.5	+	2	673	c.390C>A	c.(388-390)aaC>aaA	p.N130K	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.N130K|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACATCCTCAACGCCAAGTTCG	0.498000													14	58					0.000308642	0.00033179	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177930014	177930014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:177930014C>T	ENST00000308284.6	-	7	937	c.848G>A	c.(847-849)aGt>aAt	p.S283N	SEC16B_ENST00000464631.1_Missense_Mutation_p.S284N|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.S283N|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	283					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCCGAAACTCACAGGAAC	0.532000													5	40					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	13					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													4	20					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846330	47846330	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr6:47846330G>A	ENST00000339488.4	-	3	2283	c.2250C>T	c.(2248-2250)agC>agT	p.S750S		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	750						integral to membrane	hedgehog receptor activity										CTTGCAAGGAGCTTTTTATAC	0.433000													9	23					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	176001149	176001149	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr2:176001149T>A	ENST00000264110.2	-	3	321	c.23A>T	c.(22-24)aAt>aTt	p.N8I	ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	8					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CCTGGCAGAATTCACATGTAA	0.284000													11	144					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58982449	58982449	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr19:58982449C>T	ENST00000536459.2	+	4	1299	c.590C>T	c.(589-591)cCa>cTa	p.P197L	ZNF324_ENST00000535298.1_5'UTR|ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L			O75467	Z324A_HUMAN	zinc finger protein 324	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGGCAGAAACCATGTGCACAG	0.647000													3	48					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60164141	60164141	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr11:60164141T>C	ENST00000300187.6	+	1	367	c.90T>C	c.(88-90)ccT>ccC	p.P30P	MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	30						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTACAGACCTCATAGCTCTC	0.458000													3	32					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153135593	153135593	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chrX:153135593G>A	ENST00000370060.1	-	9	1098	c.909C>T	c.(907-909)ggC>ggT	p.G303G	L1CAM_ENST00000370055.1_Silent_p.G298G|L1CAM_ENST00000370057.3_Silent_p.G303G|L1CAM_ENST00000543994.1_Silent_p.G305G|L1CAM_ENST00000538883.1_Silent_p.G305G|L1CAM_ENST00000361699.4_Silent_p.G303G|L1CAM_ENST00000361981.3_Silent_p.G298G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	303	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCCTCCTCGCCCACTTTCA	0.632000													47	126					0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56447021	56447021	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr4:56447021T>C	ENST00000295645.4	-	3	287	c.185A>G	c.(184-186)gAt>gGt	p.D62G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	62				D -> N (in Ref. 3; AAH34431).						endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			ATCTTCTTCATCAAATTCATC	0.269000													3	9					0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804993	115804993	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr10:115804993G>A	ENST00000369295.2	+	1	1188	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	368					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCTGGGCTACGCCAACTCGGC	0.672000													3	24					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43262758	43262758	+	Missense_Mutation	SNP	C	C	T	rs139296068		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr15:43262758C>T	ENST00000290650.4	-	40	4495	c.4417G>A	c.(4417-4419)Gca>Aca	p.A1473T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1473					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAGAAGATGCGGAATGAGCC	0.353000													4	93					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866333	100866333	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr8:100866333C>T	ENST00000358544.2	+	56	10902	c.10791C>T	c.(10789-10791)gtC>gtT	p.V3597V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3597					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTGCTCGTCAGCATCCACG	0.537000													10	80					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58156417	58156417	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:58156417C>T	ENST00000295956.4	+	46	7902	c.7737C>T	c.(7735-7737)ggC>ggT	p.G2579G	FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Silent_p.G2399G|FLNB_ENST00000358537.3_Silent_p.G2555G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Silent_p.G2538G|FLNB_ENST00000493452.1_Silent_p.G2386G|FLNB_ENST00000490882.1_Silent_p.G2610G|FLNB_ENST00000429972.2_Silent_p.G2568G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2579	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGAGAGGGGCGATTATGTGC	0.542000													4	58					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76573856	76573856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr4:76573856G>A	ENST00000359707.4	-	9	1680	c.895C>T	c.(895-897)Cga>Tga	p.R299*	G3BP2_ENST00000357854.3_Nonsense_Mutation_p.R266*|G3BP2_ENST00000395719.3_Nonsense_Mutation_p.R299*	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	299					cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACCAGGTCGTTCTCTAGGT	0.398000													4	34					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													4	20					0	0	1	0	0
PCDHA8	0	broad.mit.edu	37	5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647000													13	76					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94935560	94935560	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr8:94935560C>T	ENST00000396200.3	+	3	1624	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y|PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	425					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGAGACTATGCATAGGCAGGA	0.498000													7	120					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118897516	118897516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr10:118897516C>A	ENST00000277905.2	-	1	296	c.52G>T	c.(52-54)Gct>Tct	p.A18S	VAX1_ENST00000369206.5_Missense_Mutation_p.A18S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	18						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		ACCCGGGCAGCCTCGGCGTCC	0.552000													8	88					0.00307968	0.003153	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86488275	86488275	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:86488275C>A	ENST00000370571.2	-	17	2515		c.e17-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTTCACCCTGGAAAGCAC	0.328000													3	42					0.00909568	0.00909568	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53531240	53531240	+	Silent	SNP	G	G	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:53531240G>C	ENST00000288139.3	+	2	247	c.129G>C	c.(127-129)ccG>ccC	p.P43P	CACNA1D_ENST00000350061.5_Silent_p.P43P|CACNA1D_ENST00000422281.2_Silent_p.P43P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	43					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTTCTCAGCCGAATAGCTCCA	0.488000													6	72					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109784483	109784483	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr4:109784483C>T	ENST00000399132.1	-	21	1674	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G382R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G378R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	382	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ACCTTTGGTCCGGGGGCTCCA	0.453000													12	30					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42747223	42747223	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr20:42747223C>A	ENST00000372980.3	-	3	2082	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	404	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGGGCGGCCTGTTCCGCT	0.607000													9	169					6.40141e-05	7.2437e-05	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													3	24					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113949974	113949974	+	Missense_Mutation	SNP	C	C	T	rs146593284		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr2:113949974C>T	ENST00000245796.6	+	6	1841	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PSD4_ENST00000441564.2_Missense_Mutation_p.P521L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	549	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGGACACCGATGAACTCT	0.557000													25	211					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275921	159275921	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:159275921C>A	ENST00000368115.1	+	5	574	c.475C>A	c.(475-477)Cac>Aac	p.H159N	FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	159	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTATGAGAACCACAACATCTC	0.488000													22	74					3.83957e-06	4.4622e-06	1	1	0
PDLIM5	10611	broad.mit.edu	37	4	95376473	95376473	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr4:95376473G>A	ENST00000317968.4	+	2	170	c.34G>A	c.(34-36)Gct>Act	p.A12T	PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	12	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTGGCCCAGCTCCTTGGGG	0.403000													4	35					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967187	64967187	+	Silent	SNP	T	T	G			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr10:64967187T>G	ENST00000399262.2	-	10	4460	c.4242A>C	c.(4240-4242)tcA>tcC	p.S1414S	JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1414					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTACTTCTGAACCACCCC	0.408000													17	148					0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1370473	1370473	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr16:1370473C>T	ENST00000355803.4	+	6	919	c.368C>T	c.(367-369)cCa>cTa	p.P123L	LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	123					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTAAATGAACCAAATATCCAA	0.532000													6	93					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10417120	10417120	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:10417120C>T	ENST00000397077.1	-	10	1850	c.1275G>A	c.(1273-1275)tcG>tcA	p.S425S	ATP2B2_ENST00000343816.4_Silent_p.S456S|ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000352432.4_Silent_p.S470S|ATP2B2_ENST00000360273.2_Silent_p.S470S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	470					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCACCTTCACCGAATAGGCCA	0.622000													8	48					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627925	170627925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr6:170627925C>T	ENST00000476287.1	+	2	1555	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	483					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAATCCAGGCAAGAAGTTTT	0.453000													9	200					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391533	49391533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr12:49391533C>T	ENST00000421952.2	-	2	1147	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	376	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGTTCTCCTTCTTTCCCTTCC	0.632000													15	43					0	0	1	0	0
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000527950.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418000													6	12					0.000157383	0.000173525	1	1	0
RP11-206L10.2	0	broad.mit.edu	37	1	700514	700514	+	RNA	DEL	A	A	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:700514delA	ENST00000428504.1	-	0	1039					NR_033908.1																						actccatctcaaaaaaaaaaa	0.453													2	4	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													8	93	---	---	---	---					
CAPSL	133690	broad.mit.edu	37	5	35910128	35910128	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:35910128delT	ENST00000397367.2	-	4	491	c.365delA	c.(364-366)agfs	p.K122fs	CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	122	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTGTCTAACTTTCTAAAAGC	0.388													33	68	---	---	---	---					
HLA-V	0	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													2	4	---	---	---	---					
ANKS1A	23294	broad.mit.edu	37	6	34857303	34857320	+	In_Frame_Del	DEL	GGCGGCGGCGGCGGCAGC	GGCGGCGGCGGCGGCAGC	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:34857303_34857320delGGCGGCGGCGGCGGCAGC	ENST00000360359.3	+	1	262_279	c.124_141delGGCGGCGGCGGCGGCAGC	c.(124-141)del	p.GGGGGS42del	ANKS1A_ENST00000535627.1_In_Frame_Del_p.GGGGGS42del	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	42	Gly-rich.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						tggctctgggggcggcggcggcggcagcggcggcggcg	0.775													3	4	---	---	---	---					
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													8	157	---	---	---	---					
FABP4	2167	broad.mit.edu	37	8	82391107	82391107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:82391107delC	ENST00000256104.4	-	4	487	c.392delG	c.(391-393)aafs	p.R131fs	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	131					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GGCTTATGCTCTCTCATAAAC	0.383													18	59	---	---	---	---					
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr9:95228754delT	ENST00000375544.3	-	4	730	c.487delA	c.(487-489)gtfs	p.S163fs	ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373													22	110	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47692564	47692565	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr21:47692564_47692565delGT	ENST00000397708.1	-	9	2629_2630	c.2375_2376delAC	c.(2374-2376)gfs	p.D792fs	MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	792					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGTTTCTCAGGTCCTGGTACAT	0.500													45	102	---	---	---	---					
RP11-206L10.2	0	broad.mit.edu	37	1	700514	700514	+	RNA	DEL	A	A	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:700514delA	ENST00000428504.1	-	0	1039					NR_033908.1																						actccatctcaaaaaaaaaaa	0.453													2	4	---	---	---	---					
SNHG12	0	broad.mit.edu	37	1	28906819	28906820	+	RNA	INS	-	-	AAAA	rs147786269		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:28906819_28906820insAAAA	ENST00000488745.1	-	0	1100				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA																							gactccgtctcaaaaaaaaaaa	0.490													3	6	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	646	---	---	---	---					
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr9:95228754delT	ENST00000375544.3	-	4	730	c.487delA	c.(487-489)gtfs	p.S163fs	ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373													22	110	---	---	---	---					
CTB-91J4.1	0	broad.mit.edu	37	17	34445618	34445619	+	RNA	INS	-	-	C	rs66867561	by1000genomes	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr17:34445618_34445619insC	ENST00000592460.1	+	0	41																											ACTGCCCCCCACCCCCCCACCC	0.599													2	4	---	---	---	---