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
KCNAB1	7881	broad.mit.edu	37	3	156181519	156181519	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:156181519C>T	uc003far.2	+	5	575	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	KCNAB1_uc011bon.1_Missense_Mutation_p.L171F|KCNAB1_uc003fas.2_Missense_Mutation_p.L160F|KCNAB1_uc003fat.2_Missense_Mutation_p.L153F|KCNAB1_uc010hvt.1_Missense_Mutation_p.L153F|KCNAB1_uc011boo.1_Missense_Mutation_p.L47F	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	171						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AACAACCAAACTCTACTGGGG	0.338000													8	29					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223865	42223865	+	Silent	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:42223865C>G	uc002orl.3	+	6	1630	c.1509C>G	c.(1507-1509)ccC>ccG	p.P503P	CEACAM5_uc002orj.1_Silent_p.P502P	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	503	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGCCCAAGCCCTCCATCTCCA	0.532000													23	127					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	74					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31424571	31424571	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:31424571C>T	uc003jhg.2	-	26	3583	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H	DROSHA_uc003jhh.2_Missense_Mutation_p.R1038H|DROSHA_uc003jhi.2_Missense_Mutation_p.R1038H	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	1075	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R1075C(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCAGACTTCGCGCAGGTCCTG	0.423000													5	13					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187179284	187179284	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:187179284C>A	uc003iyy.3	+	14	1906	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KLKB1_uc011clc.2_Missense_Mutation_p.T410N|KLKB1_uc011cld.2_3'UTR	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	612	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTGTCTACACCAAAGTCGCT	0.517000													24	37					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77473103	77473103	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:77473103C>G	uc021sqy.1	-	4	1742	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T	PEAK1_uc002bcn.2_Missense_Mutation_p.S389T|PEAK1_uc021sqz.1_5'Flank	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	389	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ACTAGAGGGACTTTCATAATT	0.413000													9	28					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:7578395G>C	uc002gim.2	-	4	729	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_uc002gig.1_Missense_Mutation_p.H179D|TP53_uc002gih.3_Missense_Mutation_p.H179D|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47D|TP53_uc010cnf.1_Missense_Mutation_p.H47D|TP53_uc002gii.1_Missense_Mutation_p.H47D|TP53_uc010cni.1_Missense_Mutation_p.H179D|TP53_uc010cnh.1_Missense_Mutation_p.H179D|TP53_uc002gij.2_Missense_Mutation_p.H179D|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86D|TP53_uc002gio.2_Missense_Mutation_p.H47D|TP53_uc010vug.2_Missense_Mutation_p.H140D	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(188)|p.H179R(106)|p.H179L(35)|p.H179N(30)|p.H179D(24)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H47Y(6)|p.H178fs*3(6)|p.H178P(6)|p.H86Y(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H179P(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179del(2)|p.H179H(2)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.H178L(1)|p.E171fs*1(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H179fs*?(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	7					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	RNA	SNP	C	C	A	rs79307257	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:96593016C>A	uc010yug.1	-	26		c.1897G>T			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													5	58					0	0	1	0	0
BRCC3	79184	broad.mit.edu	37	X	154305493	154305493	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154305493C>T	uc004fna.3	+	3	352	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	BRCC3_uc011mzz.2_Non-coding_Transcript|BRCC3_uc004fnb.3_Missense_Mutation_p.R82C|BRCC3_uc011mzy.2_Missense_Mutation_p.R83C	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	82					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R81*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CATCTTACGACGTTCTGATAA	0.413000													49	39					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719088	52719088	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52719088G>T	uc002pyp.3	+	6	1159	c.864G>T	c.(862-864)caG>caT	p.Q288H	PPP2R1A_uc010ydk.2_Missense_Mutation_p.Q233H|PPP2R1A_uc010epm.1_Missense_Mutation_p.Q328H|PPP2R1A_uc002pyq.3_Missense_Mutation_p.Q109H	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	288	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ctgccttccagaacCTGATGA	0.612000			Mis		clear cell ovarian carcinoma								16	60					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771352	157771352	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:157771352C>T	uc001frg.3	-	5	1015	c.902G>A	c.(901-903)aGa>aAa	p.R301K	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.R301K|FCRL1_uc001fri.3_Intron|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	301						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATGATTGCTTCTGGCCCCAGT	0.532000													12	52					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166615897	166615897	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:166615897G>C	uc010fph.1	-	4	1409	c.1022C>G	c.(1021-1023)tCg>tGg	p.S341W	GALNT3_uc010fpi.1_Missense_Mutation_p.S341W	NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	341					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATCAGGAAGCGACTCCCAGCC	0.388000													4	26					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	RNA	SNP	A	A	G	rs111976783		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:96593000A>G	uc010yug.1	-	26		c.1913T>C			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													5	64					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606948	116606948	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:116606948C>G	uc001lcb.3	+	11	2003	c.1668C>G	c.(1666-1668)caC>caG	p.H556Q	FAM160B1_uc001lcc.3_Missense_Mutation_p.H556Q	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	556										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CTCCAGACCACCCCAAAAATG	0.353000													3	22					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162764	91162764	+	Silent	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:91162764A>G	uc001kgi.3	+	1	880	c.732A>G	c.(730-732)ctA>ctG	p.L244L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Silent_p.L244L|IFIT1_uc001kgj.3_Silent_p.L213L	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	244					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGAAGCTCTAGCCAACATGT	0.418000													102	62					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91447499	91447499	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:91447499C>G	uc010bnz.2	+	1	177	c.62C>G	c.(61-63)tCg>tGg	p.S21W	MAN2A2_uc010boa.3_Missense_Mutation_p.S63W|MAN2A2_uc002bqc.3_Missense_Mutation_p.S21W|MAN2A2_uc010uql.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	21					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGTCTTCTCGCTCTACCTC	0.557000													25	44					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65729347	65729347	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:65729347C>T	uc001ogl.3	+	0	188	c.96C>T	c.(94-96)caC>caT	p.H32H	SART1_uc009yqy.1_Silent_p.H32H|SART1_uc010rot.1_5'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	32					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cgccgcggcaccgggaacaca	0.721000													3	9					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2054608	2054608	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr9:2054608G>A	uc003zhc.3	+	5	1157	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	SMARCA2_uc003zhd.3_Missense_Mutation_p.R353H|SMARCA2_uc010mha.3_Missense_Mutation_p.R344H	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	353					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding	p.R353M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTTCAGGCCCGCATAGCTCAT	0.398000													4	76					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154615	50154615	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:50154615C>T	uc002poq.3	+	6	1093	c.969C>T	c.(967-969)gaC>gaT	p.D323D		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	323					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCGCCCGGACGCGCAGCCCA	0.697000													13	8					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106863781	106863781	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:106863781G>T	uc011cfd.2	+	8	1384	c.1171G>T	c.(1171-1173)Gcc>Tcc	p.A391S	NPNT_uc011cfc.2_Missense_Mutation_p.A378S|NPNT_uc011cfe.2_Missense_Mutation_p.A391S|NPNT_uc003hya.3_Missense_Mutation_p.A361S|NPNT_uc011cff.2_Missense_Mutation_p.A361S	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	361					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGCACCAGCTGCCAGTACACC	0.517000													13	84					0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32135825	32135825	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:32135825G>A	uc001rks.3	+	3	2350	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	646										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CAGGGTTTTGGACAACTCCTT	0.418000													11	56					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126132950	126132950	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:126132950G>A	uc010hsg.1	+	2	212	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CCDC37_uc003eiu.1_Silent_p.A51A	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	51										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACCCTTCAGCGAACCCTTTCC	0.572000													61	119					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242021733	242021733	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:242021733G>A	uc002wah.1	+	28	4075	c.4075G>A	c.(4075-4077)Gag>Aag	p.E1359K	SNED1_uc002wai.1_Missense_Mutation_p.E561K|SNED1_uc002waj.1_Missense_Mutation_p.E413K	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1359					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTGTTCTCCGAGACAAAGGC	0.582000													37	63					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55523609	55523609	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:55523609C>A	uc002ehz.4	+	6	1364	c.1053C>A	c.(1051-1053)ttC>ttA	p.F351L	MMP2_uc010vhd.2_Missense_Mutation_p.F275L|MMP2_uc010ccc.3_Missense_Mutation_p.F301L	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	351	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCTGTGTCTTCCCCTTCACTT	0.577000													28	49					0	0	1	0	0
CNPY1	285888	broad.mit.edu	37	7	155301672	155301672	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:155301672C>A	uc003wmc.1	-	1	206	c.61G>T	c.(61-63)Gct>Tct	p.A21S		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	Homo sapiens canopy 1 homolog (zebrafish) (CNPY1), mRNA.	21								p.A21T(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCCTAGGAGCGAATCTCTTG	0.403000													6	18					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89762026	89762026	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:89762026A>C	uc010cio.3	+	12	1052	c.1009A>C	c.(1009-1011)Acc>Ccc	p.T337P	CDK10_uc002fod.3_Intron|CDK10_uc002foe.3_Missense_Mutation_p.T266P|CDK10_uc002fof.3_Missense_Mutation_p.T260P|CDK10_uc002fog.4_Intron|CDK10_uc002foh.4_Missense_Mutation_p.T266P|CDK10_uc002foi.3_Non-coding_Transcript	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	337					negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCTCATGCCGACCTTTCCCCA	0.672000													5	9					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48458098	48458098	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:48458098T>A	uc004dkj.2	+	3	1021	c.516T>A	c.(514-516)gaT>gaA	p.D172E	WDR13_uc004dkk.2_Missense_Mutation_p.D80E|WDR13_uc004dkl.4_Missense_Mutation_p.D80E|WDR13_uc011mme.2_Missense_Mutation_p.D50E	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	172						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						AGCACGTGGATGAGGCAGGTG	0.572000													17	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635252	179635252	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:179635252G>C	uc021vsy.1	-	34	8492	c.8267C>G	c.(8266-8268)tCt>tGt	p.S2756C	TTN_uc021vsz.1_Missense_Mutation_p.S2710C|TTN_uc021vta.1_Missense_Mutation_p.S2710C|TTN_uc021vtb.1_Missense_Mutation_p.S2710C|TTN_uc002unb.2_Missense_Mutation_p.S2756C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2756							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTGACAGAGATAGCATA	0.443000													10	61					0	0	1	0	0
LOC388692	388692	broad.mit.edu	37	1	149288711	149288711	+	RNA	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:149288711G>A	uc010pbf.1	+	0		c.9236G>A			LOC388692_uc001esg.4_Non-coding_Transcript					Homo sapiens uncharacterized LOC388692 (LOC388692), non-coding RNA.																		CTCCACCCCCGGCGCCCAACC	0.657000													3	7					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102689755	102689755	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:102689755G>A	uc001krs.3	+	8	2875	c.2333_splice	c.e8+1	p.K778_splice	FAM178A_uc001krt.4_Splice_Site_p.K778_splice	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	778																	TTATTCTTAAGTAAGTAGAAA	0.264000													6	13					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32459673	32459673	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr18:32459673C>T	uc010dmn.1	+	18	2072	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	DTNA_uc002kxw.2_Missense_Mutation_p.R634C|DTNA_uc002kxz.2_Missense_Mutation_p.R638C|DTNA_uc002kxy.2_Missense_Mutation_p.R631C|DTNA_uc010dmj.3_Missense_Mutation_p.R631C|DTNA_uc010xby.1_Missense_Mutation_p.R381C|DTNA_uc002kye.3_Missense_Mutation_p.R339C|DTNA_uc010xca.2_Missense_Mutation_p.R343C|DTNA_uc010xbz.2_Missense_Mutation_p.R400C	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	691					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.R339C(1)|p.R691C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGTACCATGCGTGGCGACAT	0.433000													4	23					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033136	41033136	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:41033136C>G	uc021wjj.1	+	0	650	c.650C>G	c.(649-651)aCc>aGc	p.T217S	B3GALT5_uc002yyb.1_Missense_Mutation_p.T217S|B3GALT5_uc002yye.2_Missense_Mutation_p.T217S|B3GALT5_uc002yyi.1_Missense_Mutation_p.T217S|B3GALT5_uc002yyj.1_Missense_Mutation_p.T217S|B3GALT5_uc002yyk.1_Missense_Mutation_p.T217S|B3GALT5_uc002yyl.1_Missense_Mutation_p.T217S|B3GALT5_uc002yym.1_Missense_Mutation_p.T217S	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	217					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGCTCCGGCACCGGCTACGTG	0.512000													33	38					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55038789	55038789	+	Splice_Site	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:55038789G>C	uc003dhf.3	+	32	2739	c.2691_splice	c.e32-1	p.R897_splice	CACNA2D3_uc003dhg.1_Splice_Site_p.R803_splice|CACNA2D3_uc003dhh.1_Splice_Site	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	897						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTTTCCTGTAGAATTACCCTT	0.453000													11	39					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854544	88854544	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:88854544C>G	uc010kbz.3	-	1	580	c.450G>C	c.(448-450)agG>agC	p.R150S	CNR1_uc011dzr.2_Missense_Mutation_p.R150S|CNR1_uc011dzs.2_Missense_Mutation_p.R150S|CNR1_uc003pmq.4_Missense_Mutation_p.R150S|CNR1_uc011dzt.2_Missense_Mutation_p.R150S|CNR1_uc010kca.3_Missense_Mutation_p.R117S|CNR1_uc021zco.1_Missense_Mutation_p.R150S	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	150					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGTAGGAAGGCCTGCAGCGGA	0.602000													3	28					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132888171	132888171	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:132888171T>C	uc010nrn.2	-	2	567	c.370A>G	c.(370-372)Aac>Gac	p.N124D	GPC3_uc004exe.2_Missense_Mutation_p.N124D|GPC3_uc011mvh.2_Missense_Mutation_p.N108D|GPC3_uc010nro.2_Missense_Mutation_p.N70D|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	124						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGTGTAGTTCTTGGCATGG	0.368000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				50	86					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83839206	83839206	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:83839206C>A	uc011dyy.2	+	15	2553	c.2293C>A	c.(2293-2295)Cgt>Agt	p.R765S	DOPEY1_uc003pjs.1_Missense_Mutation_p.R774S|DOPEY1_uc010kbl.1_Missense_Mutation_p.R765S	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	774					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATCAGAGTTACGTTCTGAAAA	0.393000													8	24					0	0	1	0	0
RPS28	6234	broad.mit.edu	37	19	8386953	8386953	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:8386953G>C	uc002mjn.3	+	2	235	c.204G>C	c.(202-204)ttG>ttC	p.L68F	NDUFA7_uc002mjm.2_5'Flank	NM_001031	NP_001022	P62857	RS28_HUMAN	Homo sapiens ribosomal protein S28 (RPS28), mRNA.	68					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome										CCCGGAGGTTGCGCTGAGCTT	0.602000													4	8					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55872564	55872564	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:55872564G>A	uc002rzf.2	-	21	1795	c.1742C>T	c.(1741-1743)gCa>gTa	p.A581V		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	581					RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCCTTTTTTGCCACTAGAAG	0.294000													8	21					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451418	105451418	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:105451418C>A	uc022cca.1	+	0	1993	c.1993C>A	c.(1993-1995)Cta>Ata	p.L665I	MUM1L1_uc004emg.2_Missense_Mutation_p.L665I|MUM1L1_uc004emf.2_Missense_Mutation_p.L665I	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	665										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGCAAAGTATCTAAAAGGACC	0.338000													3	2					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414259	68414259	+	RNA	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr9:68414259C>T	uc004aex.3	+	0		c.814C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ccacagtggcctcaaagaact	0.483000													3	24					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63084975	63084975	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:63084975G>A	uc002alb.4	+	42	5872	c.5872G>A	c.(5872-5874)Gtc>Atc	p.V1958I	TLN2_uc002alc.4_Missense_Mutation_p.V351I	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1958					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGCCCGTGCCGTCACGGAAAA	0.577000													8	19					0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118107897	118107897	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:118107897A>G	uc001psm.3	-	2	321	c.319T>C	c.(319-321)Tac>Cac	p.Y107H	MPZL3_uc010rxy.2_Missense_Mutation_p.Y95H|MPZL3_uc010rxz.2_Intron|MPZL3_uc009yzy.3_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	Homo sapiens myelin protein zero-like 3 (MPZL3), mRNA.	107	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCCCTTTGTATACATTTCCA	0.423000													55	70					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344803	38344803	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:38344803A>T	uc010qev.2	+	3	1873	c.1769A>T	c.(1768-1770)cAt>cTt	p.H590L	ZNF33A_uc001izg.3_Missense_Mutation_p.H584L|ZNF33A_uc001izh.3_Missense_Mutation_p.H583L|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.H584L	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	583						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TACGAATGTCATGAATGTGGA	0.378000													25	49					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	RNA	SNP	C	C	T	rs75189823	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:96593025C>T	uc010yug.1	-	26		c.1888G>A			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													5	59					0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150405020	150405020	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:150405020G>A	uc021yga.1	+	1	424	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_002084	NP_002075	P22352	GPX3_HUMAN	Homo sapiens glutathione peroxidase 3 (plasma) (GPX3), mRNA.	69					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TTGTCAACGTGGCCAGCTACT	0.517000													7	42					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872940	55872940	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:55872940G>T	uc010riy.2	+	0	422	c.422G>T	c.(421-423)tGc>tTc	p.C141F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAAAGGCTCTGCCTCGCTCTC	0.458000										HNSCC(53;0.14)			12	425					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220100575	220100575	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:220100575C>T	uc002vkg.3	+	11	2123	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	ANKZF1_uc002vkh.3_Missense_Mutation_p.A440V|ANKZF1_uc002vki.3_Missense_Mutation_p.A650V	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	650						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCGATTTGCCGCCCTCAGT	0.622000													5	181					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910256	132910256	+	Silent	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:132910256G>T	uc003qdk.2	-	0	622	c.570C>A	c.(568-570)ggC>ggA	p.G190G		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	190					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCTGGCAACTGCCCACACAAG	0.498000													6	68					0	0	1	0	0
C19orf70	125988	broad.mit.edu	37	19	5679659	5679659	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:5679659G>T	uc002mch.1	-	1	559	c.145C>A	c.(145-147)Ccc>Acc	p.P49T	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	49							protein binding			endometrium(1)|lung(1)	2						ATGGCGGGGGGGACCACCTCC	0.657000													10	22					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73932112	73932112	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:73932112A>G	uc003kdc.4	-	1	1330	c.199T>C	c.(199-201)Tgc>Cgc	p.C67R	ENC1_uc011css.2_5'UTR|ENC1_uc021yao.1_Missense_Mutation_p.C67R	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	67	BTB.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TAGCGACTGCATGCAGCCAGC	0.542000													19	8					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528639	157528639	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:157528639C>T	uc003qqp.3	+	18	6325	c.6325C>T	c.(6325-6327)Cgc>Tgc	p.R2109C	ARID1B_uc003qqo.3_Missense_Mutation_p.R2122C|ARID1B_uc003qqn.3_Missense_Mutation_p.R2162C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	2109					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGTTGGGGATCGCAAAAACCC	0.488000													39	176					0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													5	96					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868449	39868449	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:39868449C>T	uc002olb.3	+	9	2464	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SAMD4B_uc002ola.3_Missense_Mutation_p.R477W	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	477							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCAGTTTACACGGGTGATGGG	0.592000													5	53					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37647149	37647149	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:37647149T>C	uc002ofo.1	-	2	412	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	ZNF585A_uc002ofm.1_Missense_Mutation_p.S6G|ZNF585A_uc002ofn.1_Missense_Mutation_p.S6G	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCAGGTGGCTGTAGGTCTCC	0.522000													10	30					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230164	7230164	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:7230164A>T	uc003mxb.3	+	9	2324	c.1832A>T	c.(1831-1833)gAg>gTg	p.E611V	RREB1_uc021yky.1_Missense_Mutation_p.E611V|RREB1_uc003mxc.3_Missense_Mutation_p.E611V|RREB1_uc010jnx.3_Missense_Mutation_p.E611V|RREB1_uc021ykz.1_Missense_Mutation_p.E611V|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	611					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGAGCATGGAGGCCAAGATC	0.657000													4	54					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221397	55221397	+	RNA	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:55221397G>C	uc002qgs.1	+	0		c.1797G>C			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CCCCTGGGGAGAATCTGACCC	0.627000													14	23					0	0	1	0	0
HMGN3	9324	broad.mit.edu	37	6	79918282	79918282	+	Silent	SNP	C	C	G	rs114465555	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:79918282C>G	uc021zbz.1	-	2	256	c.78G>C	c.(76-78)cgG>cgC	p.R26R	HMGN3_uc003pit.3_Silent_p.R26R|HMGN3_uc003pis.3_Silent_p.R26R|HMGN3_uc003piu.2_Silent_p.R26R	NM_001201363	NP_001188292	Q15651	HMGN3_HUMAN	Homo sapiens high mobility group nucleosomal binding domain 3 (HMGN3), transcript variant 4, mRNA.	26					chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding	p.R26L(1)		central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		ATCTGGCAGACCGTCTTGTGG	0.353000													27	100					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79362391	79362391	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:79362391G>C	uc003hlb.2	+	40	6045	c.5605G>C	c.(5605-5607)Gat>Cat	p.D1869H	FRAS1_uc003hkw.3_Missense_Mutation_p.D1869H|FRAS1_uc010ijj.2_Missense_Mutation_p.D289H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1868					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTCCAGAGAGATGCCATCAT	0.423000													5	10					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154185347	154185347	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154185347C>T	uc004fmt.3	-	10	1808	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	546	F5/8 type A 2.|Plastocyanin-like 3.		R -> W (in HEMA; mild; dbSNP:rs28937277).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.P545P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTCAGGCACCGAGGATCTGA	0.413000													79	98					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106761661	106761661	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:106761661G>C	uc002tdm.3	-	5	540	c.442C>G	c.(442-444)Ccc>Gcc	p.P148A	UXS1_uc002tdn.3_Missense_Mutation_p.P153A|UXS1_uc002tdo.3_Missense_Mutation_p.P91A|UXS1_uc010ywh.2_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	148					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTAGAGGGGCTCCACCACG	0.527000													16	48					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140272382	140272382	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:140272382C>T	uc003ihu.1	+	7	1105	c.849C>T	c.(847-849)gcC>gcT	p.A283A		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	283					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGAGGAAGCCTGGACTAAAT	0.318000													14	6					0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202483678	202483678	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:202483678G>T	uc002uyf.3	-	0	228	c.176C>A	c.(175-177)aCg>aAg	p.T59K	ALS2CR11_uc002uye.3_Missense_Mutation_p.T59K|ALS2CR11_uc010fti.3_Missense_Mutation_p.T59K|ALS2CR11_uc021vvc.1_Missense_Mutation_p.T59K	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	59										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CAGGGCCGTCGTGCCCTGGTT	0.647000													13	37					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55568610	55568610	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:55568610T>C	uc021pqw.1	-	35	5604	c.5209A>G	c.(5209-5211)Agt>Ggt	p.S1737G	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.S1732G|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCCTCACTTTCCACACCT	0.507000										HNSCC(58;0.16)			5	8					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107165066	107165066	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:107165066A>C	uc001vqi.3	-	1	293	c.217T>G	c.(217-219)Tat>Gat	p.Y73D		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	73					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAATATTCATACTGGCCAACA	0.388000													8	53					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16870140	16870140	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:16870140G>A	uc002neu.4	+	6	2296	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	NWD1_uc002net.4_Missense_Mutation_p.R490H|NWD1_uc002nev.4_Missense_Mutation_p.R419H|NWD1_uc021uqg.1_Missense_Mutation_p.R490H	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	625	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGCTGCTGCGCTTCCCGCCC	0.652000													10	30					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692521	153692521	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:153692521G>A	uc004flm.3	+	7	1866	c.1693G>A	c.(1693-1695)Gtg>Atg	p.V565M		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	565					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCACAACGTGCCAGACCT	0.697000													24	16					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613453	3613453	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:3613453G>A	uc010btn.3	-	4	1896	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	495					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding	p.S494L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCGCTCCTGAAATGCGTGA	0.642000													5	4					0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924851	44924851	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:44924851C>G	uc003tme.3	-	0	110	c.97G>C	c.(97-99)Gag>Cag	p.E33Q		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	Homo sapiens purine-rich element binding protein B (PURB), mRNA.	33					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GAGGCCAGCTCCTGCGTCTCT	0.697000													3	21					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480588	32480588	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr22:32480588G>T	uc003amc.3	+	7	1077	c.827G>T	c.(826-828)tGg>tTg	p.W276L	SLC5A1_uc011alz.2_Missense_Mutation_p.W149L	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	276					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GACCTCCCATGGCCTGGGTTC	0.537000													5	53					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	74	74	+	RNA	SNP	T	T	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrGL000237.1:74T>G	uc011mgu.1	-	1		c.1144A>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		aacagaatcctctatagcaat	0.586000													3	2					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88924523	88924523	+	Missense_Mutation	SNP	A	A	G	rs61754379		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:88924523A>G	uc001pcs.3	+	1	1055	c.973A>G	c.(973-975)Acc>Gcc	p.T325A		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	325			T -> A (in OCA1B).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCTGAGTTTGACCCAATATGA	0.418000													31	79					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413522	178413522	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:178413522C>T	uc003mjr.3	-	7	1912	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.R161H|GRM6_uc003mjs.1_Missense_Mutation_p.R198H	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	578					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCAGCTCAGGCGCACCACAGG	0.697000													21	6					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55981195	55981195	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:55981195C>A	uc003has.3	-	4	806	c.504G>T	c.(502-504)aaG>aaT	p.K168N	KDR_uc003hat.1_Missense_Mutation_p.K168N|KDR_uc011bzx.2_Missense_Mutation_p.K168N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	168	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAACAAATCTCTTTTCTGGGT	0.383000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			3	14					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57571295	57571295	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:57571295C>T	uc001snd.3	+	25	4748	c.4282C>T	c.(4282-4284)Cgg>Tgg	p.R1428W		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1428					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCGTGCACCGGGAGACCGG	0.667000													19	31					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192287	41192287	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:41192287C>G	uc001zne.3	+	3	1610	c.1271C>G	c.(1270-1272)aCg>aGg	p.T424R		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	424					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGCCTGGACACGGTCCTGGCC	0.617000													7	68					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772161	4772161	+	Silent	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:4772161G>T	uc001alm.1	+	1	612	c.231G>T	c.(229-231)ccG>ccT	p.P77P	AJAP1_uc001aln.3_Silent_p.P77P	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	77					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCCCGGCCCCGGTGTGGAGCC	0.776000													5	30					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580527	40580527	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:40580527T>G	uc010xvh.2	-	5	1973	c.1825A>C	c.(1825-1827)Act>Cct	p.T609P	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.T608P|ZNF780A_uc002omz.3_Missense_Mutation_p.T608P	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCTCACCAGTATGCAATTTC	0.413000													7	76					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585361	7585361	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:7585361C>T	uc003mxp.1	+	23	8145	c.7866C>T	c.(7864-7866)atC>atT	p.I2622I	DSP_uc003mxq.1_Silent_p.I2023I|DSP_uc021yle.1_Silent_p.I2179I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2622	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCAGCCATCTTTGACACAG	0.488000													22	81					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685352	19685352	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:19685352C>T	uc002ykw.3	-	17	2106	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	692	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GATTCTGAACCGCACTAAACC	0.448000													7	32					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47262018	47262018	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:47262018A>C	uc001vbk.3	+	5	1090	c.854A>C	c.(853-855)aAg>aCg	p.K285T	LRCH1_uc010acp.2_Missense_Mutation_p.K285T|LRCH1_uc001vbj.3_Missense_Mutation_p.K285T|LRCH1_uc001vbl.4_Missense_Mutation_p.K285T	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	285										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CACATATTTAAGTATCTGAGC	0.373000													7	29					0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201306	132201306	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:132201306G>A	uc002tst.2	-	0	1162	c.696C>T	c.(694-696)ctC>ctT	p.L232L						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GGTGTATGGCGAGCTGGCGGA	0.607000													16	15					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732400	100732400	+	Missense_Mutation	SNP	G	G	A	rs111492335		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:100732400G>A	uc003uxq.3	+	2	2038	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.V603M	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	603					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGGGACCGCGTGGCTGTCAG	0.692000													5	86					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52715971C>T	uc002pyp.3	+	4	831	c.536C>T	c.(535-537)cCc>cTc	p.P179L	PPP2R1A_uc010ydk.2_Missense_Mutation_p.P124L|PPP2R1A_uc010epm.1_Missense_Mutation_p.P219L|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.P179R(42)|p.P179L(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								42	7					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478776	42478776	+	Silent	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:42478776T>C	uc002igw.2	-	7	888	c.669A>G	c.(667-669)gtA>gtG	p.V223V	GPATCH8_uc002igv.2_Silent_p.V145V|GPATCH8_uc010wiz.2_Silent_p.V145V	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	223						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCTTCATCTACAGCCACTG	0.418000													22	63					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932018	99932018	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:99932018C>T	uc001pga.3	+	9	1559	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	CNTN5_uc009ywv.2_Missense_Mutation_p.A352V|CNTN5_uc001pfz.3_Missense_Mutation_p.A352V|CNTN5_uc021qpb.1_Missense_Mutation_p.A352V|CNTN5_uc021qpc.1_Missense_Mutation_p.A278V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	352	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A352V(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATCTCAGGCGGTGCTGGAA	0.433000													35	35					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	RNA	DEL	AAT	AAT	-	rs59197507		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:16945182_16945184delAAT	uc010ocf.2	-	3		c.973_975delATT			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		TACTGATGAAAATAATAACAGAT	0.325													3	6	---	---	---	---					
BCL2L11	10018	broad.mit.edu	37	2	111921771	111921772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:111921771_111921772insA	uc002tgv.1	+	3	848_849	c.560_561insA	c.(559-561)ttafs	p.L187fs	BCL2L11_uc002tgu.1_Frame_Shift_Ins_p.L127fs|BCL2L11_uc002tgy.2_3'UTR|BCL2L11_uc002thb.2_3'UTR|BCL2L11_uc002tgx.2_3'UTR|BCL2L11_uc021vmp.1_3'UTR|BCL2L11_uc010fkd.2_3'UTR|BCL2L11_uc002tgz.2_Frame_Shift_Ins_p.L97fs|BCL2L11_uc002thd.2_3'UTR|BCL2L11_uc002tha.2_3'UTR|BCL2L11_uc010fke.2_3'UTR|BCL2L11_uc021vmq.1_3'UTR|BCL2L11_uc002thc.2_3'UTR|BCL2L11_uc021vmr.1_3'UTR|BCL2L11_uc002tgw.2_3'UTR|BCL2L11_uc021vms.1_3'UTR	NM_138621	NP_619527	O43521	B2L11_HUMAN	Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA.	187					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTACGACTGTTACGTTACATTG	0.436													25	44	---	---	---	---					
SLC45A4	57210	broad.mit.edu	37	8	142228295	142228312	+	In_Frame_Del	DEL	CCCCGCTGGAGGTGGTGG	CCCCGCTGGAGGTGGTGG	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr8:142228295_142228312delCCCCGCTGGAGGTGGTGG	uc003ywd.1	-	3	1582_1599	c.1274_1291delCCACCACCTCCAGCGGGG	c.(1273-1293)gccaccacctccagcggggac>gac	p.ATTSSG425del	SLC45A4_uc003ywc.1_In_Frame_Del_p.ATTSSG425del|SLC45A4_uc010meq.1_In_Frame_Del_p.ATTSSG423del	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	476					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTCTCGGTGTCCCCGCTGGAGGTGGTGGCCCCGCTCTG	0.679													7	106	---	---	---	---					
CR627148	0	broad.mit.edu	37	9	66466800	66466800	+	RNA	DEL	G	G	-	rs139943429	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr9:66466800delG	uc004aec.3	+	2		c.1433delG								Homo sapiens, clone IMAGE:5213378, mRNA.																		CCTCATCAGAGGACCCCAGAT	0.522													2	4	---	---	---	---					
DNM1P41	440299	broad.mit.edu	37	15	85046591	85046594	+	Frame_Shift_Del	DEL	GTGT	GTGT	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:85046591_85046594delGTGT	uc021str.1	+	0	786_789	c.661_664delGTGT	c.(661-666)gtgtgtfs	p.V221fs	DQ601279_uc002bkj.1_5'Flank					Homo sapiens DNM1 pseudogene 41 (DNM1P41), non-coding RNA.																		CGGCATGTGCGTGTGTGTGTCCCC	0.598													2	4	---	---	---	---					
VPS35	55737	broad.mit.edu	37	16	46708574	46708575	+	Splice_Site	INS	-	-	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:46708574_46708575insA	uc002eef.4	-	9	1014	c.915_splice	c.e9-1	p.R305_splice	VPS35_uc002eed.3_Splice_Site_p.R126_splice|VPS35_uc002eee.3_Splice_Site_p.R266_splice	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	305					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAAGCTAATCTAAAAAAAAAAA	0.342													3	3	---	---	---	---					
AX748015	0	broad.mit.edu	37	17	18315107	18315108	+	RNA	INS	-	-	CT	rs113907775	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:18315107_18315108insCT	uc002gtt.1	+	0		c.635_636insCT								Homo sapiens cDNA FLJ35934 fis, clone TESTI2011315.																		gccctcttctcctcactgtctt	0.604													3	5	---	---	---	---					
APEX2	27301	broad.mit.edu	37	X	55033376	55033379	+	Frame_Shift_Del	DEL	GACG	GACG	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:55033376_55033379delGACG	uc004dtz.3	+	5	1141_1144	c.1065_1068delGACG	c.(1063-1068)tcgacgfs	p.S355fs	APEX2_uc011mom.2_Frame_Shift_Del_p.S184fs	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	355					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	p.T356T(2)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGAGCAGTCGACGCTGCAGCACA	0.569								Other BER factors					15	52	---	---	---	---					
