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
PADI3	51702	broad.mit.edu	37	1	17607261	17607261	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:17607261G>A	ENST00000375460.3	+	15	1771	c.1731G>A	c.(1729-1731)agG>agA	p.R577R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	577					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGACCGAGAGGAAAAAAGCAA	0.542000													23	55					0	0	0.014323	0	0
FGL2	10875	broad.mit.edu	37	7	76825931	76825931	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:76825931G>A	ENST00000248598.5	-	2	1017	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	329	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACGTGTAAACGATATTTGAGA	0.358000													29	73					0	0	0.006320	0	0
ELFN2	114794	broad.mit.edu	37	22	37770430	37770430	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:37770430G>A	ENST00000402918.1	-	3	1930	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.P382L	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	382						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCGGGGACGGGGTCCCGCGT	0.637000													22	47					0	0	0.014323	0	0
SI	6476	broad.mit.edu	37	3	164733868	164733868	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:164733868C>T	ENST00000264382.3	-	32	3822	c.3759_splice	c.e32-1	p.D1254_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1254	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TACTGAACATCCTGAAATATC	0.323000										HNSCC(35;0.089)			36	88					0	0	0.003271	0	0
PFKFB3	5209	broad.mit.edu	37	10	6258674	6258674	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr10:6258674C>T	ENST00000379775.4	+	5	702	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PFKFB3_ENST00000360521.2_Silent_p.F124F|PFKFB3_ENST00000379782.3_Silent_p.F124F|PFKFB3_ENST00000379785.1_Silent_p.F124F|PFKFB3_ENST00000536985.1_Silent_p.F104F|PFKFB3_ENST00000317350.4_Silent_p.F124F|PFKFB3_ENST00000540253.1_Silent_p.F138F|PFKFB3_ENST00000379789.4_Silent_p.F104F	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	124	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ATCAGGTTTTCGATGCCACCA	0.438000													55	68					0	0	0.014410	0	0
DNM1	1759	broad.mit.edu	37	9	130984863	130984863	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:130984863C>T	ENST00000341179.7	+	8	1208	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	DNM1_ENST00000486160.1_Silent_p.F372F|DNM1_ENST00000372923.3_Silent_p.F372F|DNM1_ENST00000393594.3_Silent_p.F372F|DNM1_ENST00000475805.1_Silent_p.F372F	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	372					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTTCCCTTTCGAGCTGGTCA	0.587000													53	66					0	0	0.014410	0	0
HCN2	610	broad.mit.edu	37	19	603592	603592	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:603592C>T	ENST00000251287.2	+	2	734	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	227					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAACCTCATCATCATCCCAG	0.602000													22	28					0	0	0.014323	0	0
CCSER1	401145	broad.mit.edu	37	4	91229641	91229641	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:91229641G>C	ENST00000509176.1	+	2	494	c.206G>C	c.(205-207)aGc>aCc	p.S69T	CCSER1_ENST00000333691.8_Missense_Mutation_p.S69T|CCSER1_ENST00000432775.2_Missense_Mutation_p.S69T	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CCTTCCATTAGCTTCCACCAT	0.468000													23	57					0	0	0.005443	0	0
PTGER3	5733	broad.mit.edu	37	1	71478162	71478162	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:71478162C>T	ENST00000370924.4	-	2	1133	c.903G>A	c.(901-903)atG>atA	p.M301I	PTGER3_ENST00000356595.4_Missense_Mutation_p.M301I|PTGER3_ENST00000351052.5_Missense_Mutation_p.M301I|PTGER3_ENST00000414819.1_Missense_Mutation_p.M301I|PTGER3_ENST00000370931.3_Missense_Mutation_p.M301I|PTGER3_ENST00000370932.2_Missense_Mutation_p.M301I|PTGER3_ENST00000460330.1_Missense_Mutation_p.M301I|PTGER3_ENST00000354608.5_Missense_Mutation_p.M301I|PTGER3_ENST00000306666.5_Missense_Mutation_p.M301I	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	301					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TTTTCAACATCATTATCTAAG	0.368000													10	23					0	0	0.008291	0	0
PHRF1	57661	broad.mit.edu	37	11	607444	607444	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:607444C>T	ENST00000264555.5	+	14	2116	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	PHRF1_ENST00000533464.1_Missense_Mutation_p.P659L|PHRF1_ENST00000413872.2_Missense_Mutation_p.P661L|PHRF1_ENST00000416188.2_Missense_Mutation_p.P662L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	663							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGTGTGGTGCCGGGGCCTCCC	0.592000													15	103					0	0	0.003163	0	0
KRT6B	3854	broad.mit.edu	37	12	52843335	52843335	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:52843335C>T	ENST00000252252.3	-	5	1042	c.995G>A	c.(994-996)aGc>aAc	p.S332N		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	332	Linker 12.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.S332T(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AGCGATGATGCTGTCCAGGTC	0.557000													57	91					0	0	0.014410	0	0
NLRP4	147945	broad.mit.edu	37	19	56369851	56369851	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:56369851C>T	ENST00000301295.6	+	3	1514	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	NLRP4_ENST00000587891.1_Silent_p.T289T|NLRP4_ENST00000346986.5_Silent_p.T364T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	364	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGCCCTGACCTGCCAGAGCA	0.547000													16	36					0	0	0.003163	0	0
C11orf35	256329	broad.mit.edu	37	11	555890	555890	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:555890G>A	ENST00000329451.3	-	12	1480	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	473										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCCTCGGGGCCGGAGTCTC	0.771000													6	36					0	0	0.003080	0	0
NLRP4	147945	broad.mit.edu	37	19	56369317	56369317	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:56369317C>T	ENST00000301295.6	+	3	980	c.558C>T	c.(556-558)ttC>ttT	p.F186F	NLRP4_ENST00000587891.1_Silent_p.F111F|NLRP4_ENST00000346986.5_Silent_p.F186F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	186	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTACACGTTCTATTTCTGCT	0.502000													34	82					0	0	0.003755	0	0
RBM12B	389677	broad.mit.edu	37	8	94746582	94746582	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:94746582G>A	ENST00000399300.2	-	3	2270	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	686							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCCTGAAGAGGCCGCCTAAA	0.622000													128	42					0	0	0.014410	0	0
MPP3	4356	broad.mit.edu	37	17	41903166	41903166	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:41903166G>A	ENST00000398393.1	-	7	902	c.642C>T	c.(640-642)atC>atT	p.I214I	MPP3_ENST00000398389.4_Silent_p.I189I			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	189					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCAGGACTGCGATCCCGTTCA	0.602000													12	42					0	0	0.003163	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:176738746G>A	ENST00000367662.3	+	16	5491	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTAGAAGGAAATTCTGCT	0.453000													18	42					0	0	0.006122	0	0
PRPF4B	8899	broad.mit.edu	37	6	4057321	4057321	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:4057321C>T	ENST00000337659.6	+	13	2733	c.2633C>T	c.(2632-2634)aCc>aTc	p.T878I	PRPF4B_ENST00000538861.1_Missense_Mutation_p.T864I	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	878	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTAGGTTGCACCTTATACGAA	0.348000													40	79					0	0	0.009718	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960830	51960830	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:51960830G>A	ENST00000321424.3	-	2	684	c.618C>T	c.(616-618)tcC>tcT	p.S206S	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	206	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGAGCACTGAGGAGCGGGCAG	0.657000													21	21					0	0	0.012319	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131075	38131075	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:38131075C>T	ENST00000406386.3	+	9	4987	c.4732C>T	c.(4732-4734)Ccc>Tcc	p.P1578S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1578					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCCCGTGTCCCCAGCCTGGA	0.682000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	38					0	0	0.004656	0	0
HIPK3	10114	broad.mit.edu	37	11	33374997	33374997	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:33374997C>T	ENST00000303296.4	+	17	3836	c.3531C>T	c.(3529-3531)acC>acT	p.T1177T	HIPK3_ENST00000525975.1_Silent_p.T1156T|HIPK3_ENST00000456517.1_Silent_p.T1156T|HIPK3_ENST00000379016.3_Silent_p.T1156T	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1177					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CATCCCCAACCATTCATCAGA	0.458000													67	50					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179613608	179613608	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:179613608G>A	ENST00000360870.5	-	46	13741	c.13519C>T	c.(13519-13521)Cta>Tta	p.L4507L	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	637	Ig-like 25.						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)			TTTGCATTTAGATTGCTTGAT	0.328000													26	63					0	0	0.004656	0	0
INTS7	25896	broad.mit.edu	37	1	212208753	212208753	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:212208753G>A	ENST00000366994.3	-	1	131	c.27C>T	c.(25-27)ttC>ttT	p.F9F	INTS7_ENST00000366992.3_Silent_p.F9F|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.F9F|INTS7_ENST00000440600.2_Silent_p.F9F	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	9					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CATCTGCCAGGAAAGACTTAG	0.512000											OREG0014240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	42					0	0	0.002780	0	0
LCE1C	353133	broad.mit.edu	37	1	152777793	152777793	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:152777793G>A	ENST00000368768.1	-	2	212	c.162C>T	c.(160-162)tcC>tcT	p.S54S	LCE1C_ENST00000607093.1_Silent_p.S54S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	54	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCAGAGCTGGAGCCACAGC	0.662000													22	23					0	0	0.004656	0	0
MICALL1	85377	broad.mit.edu	37	22	38320719	38320719	+	Silent	SNP	C	C	T	rs145525171	by1000genomes	TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:38320719C>T	ENST00000215957.6	+	7	1203	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	359	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CGAAGCCGTCCGAGGGGTATG	0.627000													26	37					0	0	0.007291	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													5	254					0	0	0.001168	0	0
DNAH3	55567	broad.mit.edu	37	16	20999096	20999096	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:20999096C>T	ENST00000261383.3	-	46	6800	c.6801G>A	c.(6799-6801)tcG>tcA	p.S2267S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2267	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S2267S(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATGTGACTTCGAGGGAGTTG	0.493000													21	40					0	0	0.003330	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98831371	98831371	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:98831371C>T	ENST00000445593.2	+	5	1365	c.685C>T	c.(685-687)Cct>Tct	p.P229S	LAPTM4B_ENST00000521545.2_Missense_Mutation_p.P138S	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	282					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TTTGCAGCCTCCTAATTTTCC	0.378000													79	21					0	0	0.014410	0	0
EPHA3	2042	broad.mit.edu	37	3	89480404	89480404	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:89480404C>T	ENST00000336596.2	+	13	2466	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	EPHA3_ENST00000494014.1_Silent_p.L747L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	747	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCGAGACCTCGCTGCTCGGA	0.493000										TSP Lung(6;0.00050)			22	29					0	0	0.010504	0	0
SCN3A	6328	broad.mit.edu	37	2	166012399	166012399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:166012399C>T	ENST00000360093.3	-	10	1537	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	SCN3A_ENST00000409101.3_Missense_Mutation_p.G349E|SCN3A_ENST00000283254.7_Missense_Mutation_p.G349E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	349						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACAGATGTATCCTTCTGGACA	0.408000													28	78					0	0	0.010818	0	0
MEIS1	4211	broad.mit.edu	37	2	66739376	66739376	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:66739376C>T	ENST00000488550.1	+	8	1137	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	MEIS1_ENST00000495021.2_Missense_Mutation_p.P215S|MEIS1_ENST00000272369.9_Missense_Mutation_p.P280S|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000398506.2_Missense_Mutation_p.P278S|MEIS1_ENST00000560281.2_Missense_Mutation_p.P280S|MEIS1_ENST00000407092.2_Missense_Mutation_p.P280S			O00470	MEIS1_HUMAN	Meis homeobox 1	280							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TGGCATCTTTCCCAAAGTAGC	0.443000													12	10					0	0	0.010729	0	0
CASC1	55259	broad.mit.edu	37	12	25311443	25311443	+	Missense_Mutation	SNP	C	C	T	rs140615558		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:25311443C>T	ENST00000354189.5	-	4	370	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	CASC1_ENST00000545133.1_Intron|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395987.3_Missense_Mutation_p.R54Q|CASC1_ENST00000395990.2_Missense_Mutation_p.R8Q|CASC1_ENST00000320267.9_Missense_Mutation_p.R48Q|CASC1_ENST00000557684.1_5'UTR	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	48								p.R54Q(2)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTTCTCAATTCGCTGTATTTC	0.299000													8	24					0	0	0.004482	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715972	68715972	+	Missense_Mutation	SNP	C	C	T	rs141046438		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:68715972C>T	ENST00000325631.5	+	2	834	c.760C>T	c.(760-762)Cct>Tct	p.P254S	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	254	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CCCTAAGACCCCTTTTGTACT	0.468000													17	50					0	0	0.004990	0	0
PSTK	118672	broad.mit.edu	37	10	124742977	124742977	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr10:124742977C>T	ENST00000405485.1	+	3	764	c.698C>T	c.(697-699)tCg>tTg	p.S233L	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000368887.3_Missense_Mutation_p.S233L			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	233							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GCATGTGCTTCGGAGGCCAGG	0.502000													15	15					0	0	0.004990	0	0
TBX15	6913	broad.mit.edu	37	1	119427747	119427747	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:119427747G>A	ENST00000369429.3	-	8	1426	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	TBX15_ENST00000207157.3_Missense_Mutation_p.P367S			Q96SF7	TBX15_HUMAN	T-box 15	473						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGGGAAGTGGGAAAGGACCCC	0.577000													16	42					0	0	0.004990	0	0
PAK3	5063	broad.mit.edu	37	X	110439090	110439090	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:110439090C>T	ENST00000519681.1	+	16	1636	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	PAK3_ENST00000372010.1_Silent_p.F392F|PAK3_ENST00000446737.1_Silent_p.F377F|PAK3_ENST00000425146.1_Silent_p.F377F|PAK3_ENST00000518291.1_Silent_p.F413F|PAK3_ENST00000262836.4_Silent_p.F392F|PAK3_ENST00000417227.1_Silent_p.F398F|PAK3_ENST00000372007.4_Silent_p.F377F|PAK3_ENST00000360648.4_Silent_p.F413F			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	392	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTTGGATTTCCTGCACTCAA	0.323000										TSP Lung(19;0.15)			42	25					0	0	0.013114	0	0
KCNB1	3745	broad.mit.edu	37	20	47991437	47991437	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:47991437G>A	ENST00000371741.4	-	2	826	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	220					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.F220L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGACTGGCCGAACTCATCGA	0.577000													19	58					0	0	0.010504	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135250247	135250247	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:135250247G>A	ENST00000265605.2	-	6	1024	c.956C>T	c.(955-957)cCc>cTc	p.P319L	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P269L|ALDH8A1_ENST00000367845.2_Intron	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	319					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TGGATCAGAGGGAATGCCGAC	0.383000													29	40					0	0	0.008361	0	0
LGALS4	3960	broad.mit.edu	37	19	39303140	39303140	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:39303140G>A	ENST00000307751.4	-	2	542	c.65C>T	c.(64-66)cCc>cTc	p.P22L	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	22	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCCCGGGATGGGCTGGTAGTA	0.617000													15	36					0	0	0.004007	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761981	130761981	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:130761981C>T	ENST00000392429.1	+	2	2792	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TMEM200A_ENST00000545622.1_Silent_p.F138F|TMEM200A_ENST00000296978.3_Silent_p.F138F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	138						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTGGCATTTTCATTTTCATTT	0.413000													40	40					0	0	0.005524	0	0
USH2A	7399	broad.mit.edu	37	1	216074170	216074170	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:216074170G>A	ENST00000366943.2	-	39	7764	c.7378C>T	c.(7378-7380)Cgt>Tgt	p.R2460C	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R2460C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2460	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCGTTATTACGAGCTGGTGTA	0.502000										HNSCC(13;0.011)			38	68					0	0	0.009718	0	0
ADAM18	8749	broad.mit.edu	37	8	39468132	39468132	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:39468132G>A	ENST00000265707.5	+	6	474	c.429G>A	c.(427-429)atG>atA	p.M143I	ADAM18_ENST00000379866.1_Missense_Mutation_p.M143I|ADAM18_ENST00000520772.1_Missense_Mutation_p.M143I|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	143					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTATCAAATGAAAAATAATG	0.333000													32	10					0	0	0.010818	0	0
RAI1	10743	broad.mit.edu	37	17	17700193	17700193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:17700193C>T	ENST00000353383.1	+	3	4400	c.3931C>T	c.(3931-3933)Cag>Tag	p.Q1311*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.Q1311*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1311						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGCAGCCTTCCAGGGGGCCAT	0.652000													63	63					0	0	0.014410	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110497275	110497275	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:110497275G>T	ENST00000378402.5	+	58	9683	c.9579G>T	c.(9577-9579)gaG>gaT	p.E3193D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3193					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.E3195D(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTCTAAGGAGGGAGAAGAGA	0.279000										HNSCC(38;0.096)			34	10					1.21669e-08	2.06411e-08	0.003271	1	0
XIRP2	129446	broad.mit.edu	37	2	168074745	168074745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:168074745G>A	ENST00000409195.1	+	5	882	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	XIRP2_ENST00000409756.2_Missense_Mutation_p.E265K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E298K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E265K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E298K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E43K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E43K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E265K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	90					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTGAGGACGAAATTACTTC	0.398000													22	61					0	0	0.012319	0	0
TTLL9	164395	broad.mit.edu	37	20	30507728	30507728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:30507728G>A	ENST00000375938.4	+	7	819	c.566G>A	c.(565-567)tGg>tAg	p.W189*	TTLL9_ENST00000375934.4_Nonsense_Mutation_p.W171*|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000535842.1_Nonsense_Mutation_p.W189*|TTLL9_ENST00000310998.4_Nonsense_Mutation_p.W139*			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	189	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCGTGGACTGGAGGAAGGTG	0.602000													50	40					0	0	0.014410	0	0
DCC	1630	broad.mit.edu	37	18	50734082	50734082	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr18:50734082G>A	ENST00000442544.2	+	11	2372	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	DCC_ENST00000412726.1_Missense_Mutation_p.E434K|DCC_ENST00000581580.1_Missense_Mutation_p.E241K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	586	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTATAAACTGGAAGGCCTGAA	0.378000													32	50					0	0	0.010818	0	0
ZNF660	285349	broad.mit.edu	37	3	44636455	44636455	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:44636455C>T	ENST00000322734.2	+	3	1103	c.770C>T	c.(769-771)tCt>tTt	p.S257F	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GCTTTTACTTCTAATCGAAAC	0.373000													19	38					0	0	0.006122	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545958	138545958	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:138545958G>A	ENST00000440172.1	-	16	5222	c.5174C>T	c.(5173-5175)tCc>tTc	p.S1725F	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1725F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1675F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1725						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTCTTCCTGGGAAGGGGTGCT	0.652000			O	BRAF	pilocytic astrocytoma								23	49					0	0	0.003330	0	0
SAA1	6288	broad.mit.edu	37	11	18291328	18291328	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:18291328G>A	ENST00000405158.2	+	4	479	c.295G>A	c.(295-297)Gct>Act	p.A99T	SAA1_ENST00000356524.4_Missense_Mutation_p.A99T|SAA1_ENST00000532858.1_Missense_Mutation_p.A99T	NM_000331.4	NP_000322.2	P02735	SAA_HUMAN	serum amyloid A1	99				ADQAAN -> SEATVK (in Ref. 11; AA sequence).	acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGCTGATCAGGCTGCCAATGA	0.522000													37	31					0	0	0.004289	0	0
NCOR2	9612	broad.mit.edu	37	12	124831171	124831171	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:124831171A>G	ENST00000356219.3	-	32	4474	c.4319T>C	c.(4318-4320)cTg>cCg	p.L1440P	NCOR2_ENST00000397355.1_Missense_Mutation_p.L1424P|NCOR2_ENST00000405201.1_Missense_Mutation_p.L1433P|NCOR2_ENST00000429285.2_Missense_Mutation_p.L1423P|NCOR2_ENST00000404121.2_Missense_Mutation_p.L994P|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1423P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1441					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGTGTGCCGCAGCTCCTCGCG	0.721000													10	19					0	0	0.008291	0	0
COL2A1	1280	broad.mit.edu	37	12	48368636	48368636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:48368636C>T	ENST00000380518.3	-	52	4060	c.3896G>A	c.(3895-3897)tGg>tAg	p.W1299*	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Nonsense_Mutation_p.W1230*	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1299	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGTCAATCCAGTAGTCTCC	0.562000													28	64					0	0	0.008361	0	0
CTB-171A8.1	0	broad.mit.edu	37	19	45202385	45202385	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:45202385C>T	ENST00000590796.1	-	0	376																											aatgtcggccccctgagggca	0.438000													53	82					0	0	0.014410	0	0
DCHS2	54798	broad.mit.edu	37	4	155156834	155156834	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:155156834G>A	ENST00000357232.3	-	25	7604	c.7605C>T	c.(7603-7605)ttC>ttT	p.F2535F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2535					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F2535F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCTGCTGGCGAACACTGCCA	0.388000													8	26					0	0	0.004482	0	0
PTPRD	5789	broad.mit.edu	37	9	8341825	8341825	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:8341825G>A	ENST00000381196.4	-	37	5358	c.4815C>T	c.(4813-4815)atC>atT	p.I1605I	PTPRD_ENST00000360074.4_Silent_p.I1592I|PTPRD_ENST00000358503.5_Silent_p.I1583I|PTPRD_ENST00000397606.3_Silent_p.I1198I|PTPRD_ENST00000537002.1_Silent_p.I1195I|PTPRD_ENST00000356435.5_Silent_p.I1605I|PTPRD_ENST00000355233.5_Silent_p.I1199I|PTPRD_ENST00000540109.1_Silent_p.I1605I|PTPRD_ENST00000397611.3_Silent_p.I1195I|PTPRD_ENST00000397617.3_Silent_p.I1198I|PTPRD_ENST00000486161.1_Silent_p.I1198I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1605	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGCATCATGGATAAAGATGT	0.388000										TSP Lung(15;0.13)			79	104					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9060196	9060196	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:9060196C>T	ENST00000397910.4	-	3	27453	c.27250G>A	c.(27250-27252)Ggt>Agt	p.G9084S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9086	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGAGAACCTGTTTGGGTG	0.473000													39	61					0	0	0.009718	0	0
METTL16	79066	broad.mit.edu	37	17	2323843	2323843	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:2323843G>A	ENST00000263092.5	-	10	1237	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	METTL16_ENST00000538844.1_Silent_p.F152F|METTL16_ENST00000571669.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	370							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TGGCCGTTAGGAAAAGGCTGA	0.468000													32	61					0	0	0.013726	0	0
C22orf43	51233	broad.mit.edu	37	22	23968225	23968225	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:23968225C>T	ENST00000317749.5	-	2	516	c.219G>A	c.(217-219)gaG>gaA	p.E73E		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	73										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCAGGCGGTCCTCAGGGGGAC	0.507000													29	54					0	0	0.012213	0	0
CHST6	4166	broad.mit.edu	37	16	75513562	75513562	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:75513562G>A	ENST00000332272.4	-	3	344	c.165C>T	c.(163-165)ttC>ttT	p.F55F	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.F55F	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	55					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTTGGCCCACGAAGGACGAGC	0.682000													9	14					0	0	0.008291	0	0
OR4K14	122740	broad.mit.edu	37	14	20482618	20482618	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:20482618G>A	ENST00000305045.2	-	1	734	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACTACCATGATATGTGCAG	0.493000													4	12					0	0	0.009096	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138196929	138196929	+	Silent	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:138196929T>C	ENST00000237289.4	+	4	657	c.591T>C	c.(589-591)ttT>ttC	p.F197F		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	197	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TACACATATTTGTCCTTTGCA	0.443000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								46	66					0	0	0.014410	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999147	27999147	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:27999147T>C	ENST00000441525.1	-	1	419	c.305A>G	c.(304-306)gAg>gGg	p.E102G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	102	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ttcttcttcctcctccCTTTC	0.498000													31	12					0	0	0.010818	0	0
CTNND2	1501	broad.mit.edu	37	5	11117571	11117571	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:11117571G>A	ENST00000304623.8	-	13	2457	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.I419I|CTNND2_ENST00000359640.2_Silent_p.I756I|CTNND2_ENST00000458100.2_Silent_p.I323I|CTNND2_ENST00000511377.1_Silent_p.I665I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	756					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I756I(4)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTTGCTATCGATCTCACTGC	0.527000													59	117					0	0	0.014410	0	0
OR2M2	391194	broad.mit.edu	37	1	248343371	248343371	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:248343371C>T	ENST00000359682.2	+	1	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGTTCCTCTTCTTTCTGGTCC	0.493000													78	146					0	0	0.014410	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222545	118222545	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:118222545C>T	ENST00000402510.2	-	11	2647	c.2648G>A	c.(2647-2649)gGa>gAa	p.G883E		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	883										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTGGGCTTTCCCAAGGCCTG	0.463000													16	9					0	0	0.004007	0	0
SPZ1	84654	broad.mit.edu	37	5	79616732	79616732	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:79616732G>A	ENST00000296739.4	+	1	943	c.698G>A	c.(697-699)aGa>aAa	p.R233K		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GCAAAAAACAGACTTAATGTT	0.353000													15	26					0	0	0.002450	0	0
TRIML2	205860	broad.mit.edu	37	4	189012789	189012789	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:189012789G>A	ENST00000512729.1	-	7	1276	c.902C>T	c.(901-903)aCt>aTt	p.T301I	TRIML2_ENST00000326754.3_Missense_Mutation_p.T326I	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	301	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GACCCAGAGAGTCCACTCGGT	0.567000													54	134					0	0	0.014410	0	0
CD1B	910	broad.mit.edu	37	1	158298804	158298804	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:158298804C>T	ENST00000368168.3	-	5	994	c.886_splice	c.e5-1	p.R296_splice		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	296					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGTGGGGTTTCCTGGCAATTG	0.453000													16	41					0	0	0.003163	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599868	136599868	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:136599868G>A	ENST00000531224.1	-	4	403	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R51C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R49C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R49C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R49C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R51C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	51					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAATACATACGATCTCTACTA	0.373000													16	71					0	0	0.004990	0	0
OSBPL7	114881	broad.mit.edu	37	17	45892603	45892603	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:45892603G>A	ENST00000007414.3	-	13	1426	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	OSBPL7_ENST00000392507.3_Missense_Mutation_p.S412F	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	412					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AGAGCTGGCGGAGAGGAGAAC	0.612000													9	25					0	0	0.013537	0	0
MIA2	117153	broad.mit.edu	37	14	39722039	39722039	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:39722039C>T	ENST00000280082.3	+	5	1854	c.1655C>T	c.(1654-1656)tCg>tTg	p.S552L	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	161						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GATGAAAATTCGAAACCATCA	0.378000													25	52					0	0	0.004656	0	0
C1orf141	400757	broad.mit.edu	37	1	67581048	67581048	+	Silent	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:67581048T>C	ENST00000371007.2	-	5	442	c.333A>G	c.(331-333)gaA>gaG	p.E111E	C1orf141_ENST00000371006.1_Silent_p.E111E|C1orf141_ENST00000544837.1_Silent_p.E111E	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	111										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTGACTCACTTTCTTTATTTT	0.289000													4	10					0	0	0.001168	0	0
YIPF1	54432	broad.mit.edu	37	1	54344370	54344370	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:54344370G>A	ENST00000072644.1	-	5	557	c.221C>T	c.(220-222)tCc>tTc	p.S74F	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.S99F	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	74						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CCAGAAGGGGGAGCTTTTCTT	0.408000													15	40					0	0	0.003163	0	0
STK24	8428	broad.mit.edu	37	13	99171631	99171631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr13:99171631G>A	ENST00000397517.2	-	2	215	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	STK24_ENST00000376547.3_Nonsense_Mutation_p.Q59*|STK24_ENST00000539966.1_Nonsense_Mutation_p.Q47*|STK24_ENST00000481288.1_5'UTR	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	59	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACCACTTTCTGAGTCCGATTG	0.433000													112	91					0	0	0.014410	0	0
SI	6476	broad.mit.edu	37	3	164755734	164755734	+	Missense_Mutation	SNP	C	C	T	rs138778317		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:164755734C>T	ENST00000264382.3	-	21	2442	c.2380G>A	c.(2380-2382)Ggt>Agt	p.G794S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	794	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGATATAACCTCCTCTAAGA	0.318000										HNSCC(35;0.089)			9	22					0	0	0.010729	0	0
RHOT2	89941	broad.mit.edu	37	16	723122	723122	+	Silent	SNP	C	C	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:723122C>G	ENST00000315082.4	+	18	1836	c.1722C>G	c.(1720-1722)gcC>gcG	p.A574A		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	574	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCACCATGGCCGCCTTCCCGT	0.662000													10	18					0	0	0.006214	0	0
PSG10P	653492	broad.mit.edu	37	19	43359863	43359863	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:43359863C>T	ENST00000597171.1	-	0	7					NR_026824.1																						TGTCCTTCCTCCTTCTGCGCT	0.597000													8	20					0	0	0.003080	0	0
RP1-241P17.4	0	broad.mit.edu	37	X	114953385	114953385	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:114953385C>T	ENST00000449327.1	-	1	284	c.165G>A	c.(163-165)gtG>gtA	p.V55V																								TGATCTGCCTCACTGACAATC	0.453000													27	7					0	0	0.006320	0	0
IGSF1	3547	broad.mit.edu	37	X	130410986	130410986	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:130410986C>T	ENST00000370904.1	-	20	3418	c.2508G>A	c.(2506-2508)ggG>ggA	p.G836G	IGSF1_ENST00000361420.3_Silent_p.G845G|IGSF1_ENST00000370903.3_Silent_p.G850G|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.G836G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	845	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGCTGTAATTCCCTCCATCAC	0.537000													125	44					0	0	0.014410	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594881	31594881	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:31594881C>T	ENST00000376033.2	+	11	1430	c.1196C>T	c.(1195-1197)cCa>cTa	p.P399L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P399L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	399	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCTCGGCCTCCAGAGACAGAG	0.677000													16	31					0	0	0.004007	0	0
COL22A1	169044	broad.mit.edu	37	8	139774709	139774709	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:139774709C>T	ENST00000303045.6	-	17	2250	c.1803_splice	c.e17-1	p.G602_splice	COL22A1_ENST00000435777.1_Splice_Site_p.G602_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	602	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTCGCTCTCCCTGGCAAAAG	0.582000										HNSCC(7;0.00092)			34	12					0	0	0.003271	0	0
MITF	4286	broad.mit.edu	37	3	69928368	69928368	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:69928368T>A	ENST00000352241.4	+	2	351	c.188T>A	c.(187-189)cTc>cAc	p.L63H	MITF_ENST00000394355.2_Missense_Mutation_p.L38H|MITF_ENST00000328528.6_Missense_Mutation_p.L62H|MITF_ENST00000314589.5_Missense_Mutation_p.L47H|MITF_ENST00000448226.2_Missense_Mutation_p.L63H|MITF_ENST00000472437.1_Missense_Mutation_p.L11H	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	63					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CGCCAGCAACTCATGCGTGAG	0.587000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						23	29					0	0	0.003330	0	0
ENTPD2	954	broad.mit.edu	37	9	139945979	139945979	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:139945979C>T	ENST00000355097.2	-	3	416	c.369G>A	c.(367-369)gcG>gcA	p.A123A	ENTPD2_ENST00000312665.5_Silent_p.A123A	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	123						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCGCATACCCGCTGTGGCTC	0.642000													11	41					0	0	0.010729	0	0
TMEM131	23505	broad.mit.edu	37	2	98377312	98377312	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:98377312C>T	ENST00000186436.5	-	37	5183	c.4955G>A	c.(4954-4956)gGc>gAc	p.G1652D		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1652						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCCGTTCTTGCCCGGGAGCGA	0.532000													44	46					0	0	0.013114	0	0
NHP2	55651	broad.mit.edu	37	5	177580796	177580796	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:177580796G>A	ENST00000274606.3	-	1	172	c.23C>T	c.(22-24)cCc>cTc	p.P8L	NHP2_ENST00000314397.4_Missense_Mutation_p.P8L	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	8					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			endometrium(1)|kidney(1)|ovary(2)	4						GGGCCCGTCGGGATCTGCCTT	0.647000													4	9					0	0	0.001984	0	0
PLA2R1	22925	broad.mit.edu	37	2	160824067	160824067	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:160824067G>A	ENST00000283243.7	-	20	3093	c.2887C>T	c.(2887-2889)Cta>Tta	p.L963L	PLA2R1_ENST00000392771.1_Silent_p.L963L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	963					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTAAAATATAGCCATCCTTTG	0.343000													41	73					0	0	0.014410	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128650	3128650	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:3128650A>G	ENST00000380266.3	-	2	1388	c.1067T>C	c.(1066-1068)tTa>tCa	p.L356S	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	356					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AATATTCACTAAGGAGCGACT	0.413000													58	36					0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	33985537	33985537	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:33985537C>T	ENST00000373381.4	-	69	10787	c.10611G>A	c.(10609-10611)ctG>ctA	p.L3537L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3393						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTCTGACTCCAGCAGCCTGA	0.567000													7	26					0	0	0.001984	0	0
OR10G8	219869	broad.mit.edu	37	11	123900998	123900998	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:123900998C>T	ENST00000431524.1	+	1	702	c.669C>T	c.(667-669)tcC>tcT	p.S223S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCGTCTGTTCCATCCTGCGGA	0.527000													34	35					0	0	0.003271	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214032	3214032	+	RNA	SNP	T	T	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:3214032T>G	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							AGCTGGGGAATCCAGCAAGCC	0.562000													33	72					0	0	0.010818	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216343	20216343	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:20216343G>A	ENST00000331723.1	+	1	757	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V253M(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGATCTTCGTGCCATGCGT	0.473000													28	178					0	0	0.012213	0	0
RPL3	6122	broad.mit.edu	37	22	39711548	39711548	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:39711548G>T	ENST00000216146.4	-	5	687	c.514C>A	c.(514-516)Cct>Act	p.P172T	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.P120T	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	172					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TGGCGCAGAGGAAGCAGGCGC	0.617000													17	25					2.35188e-11	4.004e-11	0.006122	1	0
CNTN5	53942	broad.mit.edu	37	11	99690287	99690287	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:99690287C>T	ENST00000524871.1	+	4	358	c.68C>T	c.(67-69)tCt>tTt	p.S23F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S23F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.S23F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S23F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	23			S -> A (in dbSNP:rs10790978).		cell adhesion	anchored to membrane|plasma membrane	protein binding			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)		TATTCAAAATCTCTTCCTGGT	0.323000													22	53					0	0	0.003330	0	0
ABCA8	10351	broad.mit.edu	37	17	66902222	66902222	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:66902222G>A	ENST00000269080.2	-	17	2378	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	ABCA8_ENST00000586539.1_Silent_p.F787F|ABCA8_ENST00000430352.2_Silent_p.F787F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	747						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTAGCTTCAGGAATACTTCAT	0.308000													39	100					0	0	0.007835	0	0
SPDYA	245711	broad.mit.edu	37	2	29063269	29063269	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:29063269G>A	ENST00000334056.5	+	7	973	c.784G>A	c.(784-786)Gac>Aac	p.D262N	SPDYA_ENST00000379579.4_Missense_Mutation_p.D262N|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	262					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ACATTCTCAGGACTCATACAA	0.363000													29	33					0	0	0.007291	0	0
DFNB31	25861	broad.mit.edu	37	9	117168831	117168831	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:117168831G>A	ENST00000362057.3	-	9	2208	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	DFNB31_ENST00000374059.3_Silent_p.F329F|DFNB31_ENST00000265134.6_Silent_p.F297F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	680	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACCCGTGGGAAGGGGCCGA	0.677000													33	94					0	0	0.003755	0	0
OR2J3	442186	broad.mit.edu	37	6	29079670	29079670	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:29079670G>A	ENST00000377169.1	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AATAGGAAATGAATGATGATG	0.328000													64	63					0	0	0.014410	0	0
EVPL	2125	broad.mit.edu	37	17	74004881	74004881	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:74004881C>T	ENST00000301607.3	-	22	4658	c.4405G>A	c.(4405-4407)Gag>Aag	p.E1469K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1491K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1469	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCCTTCTCCAGCTTGACC	0.612000													72	73					0	0	0.014410	0	0
NUTM1	256646	broad.mit.edu	37	15	34640774	34640774	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:34640774C>T	ENST00000537011.1	+	3	1087	c.705C>T	c.(703-705)tcC>tcT	p.S235S	NUTM1_ENST00000438749.3_Silent_p.S225S|NUTM1_ENST00000333756.4_Silent_p.S207S					NUT midline carcinoma, family member 1																		CCAAAATTTCCAAGGACGTTT	0.552000													17	37					0	0	0.007413	0	0
TGM1	7051	broad.mit.edu	37	14	24724283	24724283	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:24724283G>A	ENST00000206765.6	-	12	1945	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C	TGM1_ENST00000544573.1_Missense_Mutation_p.R166C	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	608					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TTCACTGTGCGGCGGCTGCTG	0.562000													17	39					0	0	0.004990	0	0
CENPF	1063	broad.mit.edu	37	1	214816342	214816342	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:214816342C>T	ENST00000366955.3	+	12	4829	c.4661C>T	c.(4660-4662)tCc>tTc	p.S1554F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1650	2 X 96 AA approximate tandem repeats.		Missing.		cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGCTTGAGTCCCTCTGTGAG	0.478000													20	34					0	0	0.010504	0	0
UNC13A	23025	broad.mit.edu	37	19	17743614	17743614	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:17743614C>T	ENST00000428389.2	-	29	3668	c.3669G>A	c.(3667-3669)aaG>aaA	p.K1223K	UNC13A_ENST00000519716.2_Silent_p.K1135K|UNC13A_ENST00000552293.1_Silent_p.K1135K|UNC13A_ENST00000252773.7_Silent_p.K1135K|UNC13A_ENST00000551649.1_Silent_p.K1135K|UNC13A_ENST00000550896.1_Silent_p.K1133K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1135	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCACGCGGTCCTTGAAGGCGG	0.542000													27	53					0	0	0.006320	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307076	39307076	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:39307076C>A	ENST00000541347.1	-	2	1164	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W	CX3CR1_ENST00000542107.1_Missense_Mutation_p.G309W|CX3CR1_ENST00000358309.3_Missense_Mutation_p.G341W|CX3CR1_ENST00000399220.2_Missense_Mutation_p.G309W	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	309					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGGCATTTCCCATACAGGTGG	0.483000													36	73					9.62906e-15	1.64511e-14	0.006230	1	0
LMX1A	4009	broad.mit.edu	37	1	165218664	165218664	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:165218664G>A	ENST00000342310.3	-	4	859	c.477C>T	c.(475-477)agC>agT	p.S159S	LMX1A_ENST00000294816.2_Silent_p.S159S|LMX1A_ENST00000367893.4_Silent_p.S159S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGCTGCTGGGCTCACCAGGC	0.602000													16	22					0	0	0.004990	0	0
SLC39A11	201266	broad.mit.edu	37	17	70644980	70644980	+	Silent	SNP	G	G	A	rs146713017		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:70644980G>A	ENST00000542342.2	-	9	1000	c.912C>T	c.(910-912)taC>taT	p.Y304Y	SLC39A11_ENST00000255559.3_Silent_p.Y297Y|SLC39A11_ENST00000579988.1_5'UTR	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	304					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCATGACCACGTAGACCATGG	0.642000													16	15					0	0	0.004990	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501978	140501978	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:140501978C>T	ENST00000194152.1	+	1	398	c.398C>T	c.(397-399)cCt>cTt	p.P133L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		133					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAATATTCCCTGAAAGGGAA	0.428000													12	32					0	0	0.013537	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912910	94912910	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:94912910C>T	ENST00000334708.3	-	3	739	c.675G>A	c.(673-675)caG>caA	p.Q225Q	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	225					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCTTCTGGGTCTGGTAGCGAC	0.478000													47	86					0	0	0.014410	0	0
KLK10	5655	broad.mit.edu	37	19	51518136	51518136	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:51518136C>T	ENST00000309958.3	-	6	969	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	KLK10_ENST00000391805.1_Missense_Mutation_p.G251S|KLK10_ENST00000358789.3_Missense_Mutation_p.G251S	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	251	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGGGCAGAGCCACAGGGGTAA	0.557000													33	50					0	0	0.006230	0	0
TPM2	7169	broad.mit.edu	37	9	35685757	35685757	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:35685757G>A	ENST00000378292.3	-	3	1463	c.261C>T	c.(259-261)tcC>tcT	p.S87S	TPM2_ENST00000360958.2_Silent_p.S87S|TPM2_ENST00000378300.5_Silent_p.S87S|TPM2_ENST00000329305.2_Silent_p.S87S	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	87					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCGGTTCAGGGAGGCCACAT	0.622000													40	23					0	0	0.011902	0	0
CHD3	1107	broad.mit.edu	37	17	7806015	7806015	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:7806015C>T	ENST00000380358.4	+	21	3518	c.3517C>T	c.(3517-3519)Ctg>Ttg	p.L1173L	CHD3_ENST00000358181.4_Silent_p.L1114L|CHD3_ENST00000330494.7_Silent_p.L1114L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1114	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACGGGTGCCCTGAGGCAGGA	0.522000													28	38					0	0	0.005443	0	0
MYO5B	4645	broad.mit.edu	37	18	47421481	47421481	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr18:47421481C>T	ENST00000285039.7	-	22	3174	c.2875G>A	c.(2875-2877)Gta>Ata	p.V959I	MYO5B_ENST00000324581.6_Missense_Mutation_p.V100I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	959					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCGCTCTACCTCCATGGTG	0.552000													24	55					0	0	0.004656	0	0
PRSS3	5646	broad.mit.edu	37	9	33797909	33797909	+	Missense_Mutation	SNP	C	C	T	rs142082180		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:33797909C>T	ENST00000361005.5	+	3	454	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.R95C|PRSS3_ENST00000429677.3_Missense_Mutation_p.R88C|PRSS3_ENST00000342836.4_Missense_Mutation_p.R109C	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	152	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CAAGATCATCCGCCACCCTAA	0.547000													38	22					0	0	0.004878	0	0
G6PC2	57818	broad.mit.edu	37	2	169764539	169764539	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:169764539C>T	ENST00000375363.3	+	5	1110	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	340			P -> L (in dbSNP:rs2232327).		gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TGCTTTCATTCCCTACTCTGT	0.433000													39	88					0	0	0.006230	0	0
PLXNA4	91584	broad.mit.edu	37	7	131982905	131982905	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:131982905C>T	ENST00000359827.3	-	4	2410	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R483Q			Q9HCM2	PLXA4_HUMAN	plexin A4	483	Sema.					integral to membrane|intracellular|plasma membrane		p.R483Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGCCATATCCCGGAGGACTGG	0.577000													10	61					0	0	0.008291	0	0
NLRP4	147945	broad.mit.edu	37	19	56369483	56369483	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:56369483G>A	ENST00000301295.6	+	3	1146	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	NLRP4_ENST00000587891.1_Missense_Mutation_p.E167K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E242K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	242	NACHT.						ATP binding	p.E242K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGGCTTGAACGAACCCGATTC	0.572000													29	85					0	0	0.012213	0	0
LYPD6B	130576	broad.mit.edu	37	2	150069603	150069603	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:150069603C>T	ENST00000409642.3	+	6	827	c.426C>T	c.(424-426)gtC>gtT	p.V142V	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Silent_p.V118V|LYPD6B_ENST00000280115.7_Silent_p.V142V|LYPD6B_ENST00000409029.1_Silent_p.V118V	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	118	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GTCATTTTGTCGGTTGCCACC	0.433000													68	74					0	0	0.014410	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630333	43630333	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:43630333G>A	ENST00000431635.2	-	9	1164	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.P284L	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	284					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTCTTGCCAGGCCTCTTGAG	0.572000													26	58					0	0	0.005443	0	0
MYH9	4627	broad.mit.edu	37	22	36712663	36712663	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:36712663G>A	ENST00000216181.5	-	12	1509	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	427	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCAGCCAGCGGAACATCCGC	0.592000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				12	52					0	0	0.013537	0	0
ERGIC3	51614	broad.mit.edu	37	20	34136575	34136575	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:34136575C>T	ENST00000348547.2	+	7	719	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ERGIC3_ENST00000357394.4_Silent_p.F214F|ERGIC3_ENST00000447986.1_Silent_p.F214F|ERGIC3_ENST00000279052.6_Silent_p.F214F|ERGIC3_ENST00000482338.1_3'UTR	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	214					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCGGAAACTTCCACTTTGCCC	0.562000													96	53					0	0	0.014410	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26426568	26426568	+	RNA	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:26426568G>A	ENST00000466808.2	+	0	884																											GCCCCTCACAGTGTGGAGGGA	0.597000													24	49					0	0	0.014323	0	0
USP26	83844	broad.mit.edu	37	X	132161249	132161249	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:132161249G>A	ENST00000511190.1	-	6	1469	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	USP26_ENST00000406273.1_Missense_Mutation_p.P334S|USP26_ENST00000370832.1_Missense_Mutation_p.P334S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	334					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCATTAAGGGGAATTTTACCC	0.368000													20	9					0	0	0.014323	0	0
ZNF852	285346	broad.mit.edu	37	3	44541585	44541585	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:44541585G>A	ENST00000436261.1	-	4	844	c.684C>T	c.(682-684)tcC>tcT	p.S228S	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	228					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						GAATGAGATGGGAGCTGTGCC	0.468000													9	11					0	0	0.006214	0	0
OR4E2	26686	broad.mit.edu	37	14	22133882	22133882	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:22133882G>A	ENST00000408935.1	+	1	586	c.586G>A	c.(586-588)Gga>Aga	p.G196R		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATACCTCACAGGAATACTGAT	0.468000													22	45					0	0	0.014323	0	0
NLRC3	197358	broad.mit.edu	37	16	3607670	3607670	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:3607670C>T	ENST00000301749.7	-	0	2428				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			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						ATCTGGTTCTCCGCCAAGCTG	0.522000													3	15					0	0	0.009096	0	0
OR4D6	219983	broad.mit.edu	37	11	59225123	59225123	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:59225123G>A	ENST00000300127.2	+	1	713	c.690G>A	c.(688-690)ggG>ggA	p.G230G		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCCACTCTGGGGAGGGGCGGA	0.557000													46	39					0	0	0.014410	0	0
KEL	3792	broad.mit.edu	37	7	142638489	142638489	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:142638489C>T	ENST00000355265.2	-	19	2523	c.2049G>A	c.(2047-2049)agG>agA	p.R683R		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	683					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R683R(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGCTGGGCTTCCTACACATCA	0.607000													35	62					0	0	0.005524	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622318	106622318	+	RNA	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:106622318G>A	ENST00000390604.2	-	0	101																											ATACCAGCAAGAAAAACCCAG	0.453000													21	45					0	0	0.012319	0	0
TMEM255B	348013	broad.mit.edu	37	13	114472093	114472093	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr13:114472093G>A	ENST00000375353.3	+	3	239	c.212G>A	c.(211-213)gGa>gAa	p.G71E		NM_182614.2	NP_872420.1			transmembrane protein 255B																		TCTTTCTTAGGAATTATTGGC	0.433000													11	96					0	0	0.013537	0	0
CSMD1	64478	broad.mit.edu	37	8	3855558	3855558	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:3855558C>T	ENST00000520002.1	-	5	1240	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CSMD1_ENST00000400186.3_Missense_Mutation_p.E229K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E229K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E229K|CSMD1_ENST00000539096.1_Missense_Mutation_p.E229K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E229K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E229K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	229	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGTTGTTCTCGTACTCTGAA	0.562000													7	1					0	0	0.003080	0	0
TTC7A	57217	broad.mit.edu	37	2	47205993	47205993	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:47205993C>T	ENST00000319190.5	+	5	1079	c.711C>T	c.(709-711)acC>acT	p.T237T	TTC7A_ENST00000394850.2_Silent_p.T237T|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000409245.1_Silent_p.T203T|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	237							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ATGAGCTCACCTACTTCCTGG	0.527000													15	29					0	0	0.004990	0	0
COL3A1	1281	broad.mit.edu	37	2	189855743	189855743	+	Missense_Mutation	SNP	G	G	A	rs112185887	byFrequency	TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:189855743G>A	ENST00000304636.3	+	11	982	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R271Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	271	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R271Q(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCGATGGACGAAATGGAGAA	0.279000													79	83					0	0	0.014410	0	0
PGBD1	84547	broad.mit.edu	37	6	28268586	28268586	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:28268586C>T	ENST00000405948.2	+	7	1375	c.955C>T	c.(955-957)Cca>Tca	p.P319S	PGBD1_ENST00000259883.3_Missense_Mutation_p.P319S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	319					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGACCGTCACCCAGGTGATTT	0.473000													26	52					0	0	0.007291	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899797	112899797	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:112899797T>C	ENST00000374530.3	+	8	2153	c.1973T>C	c.(1972-1974)tTa>tCa	p.L658S	AKAP2_ENST00000555236.1_Missense_Mutation_p.L658S|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.L658S|AKAP2_ENST00000434623.2_Missense_Mutation_p.L516S|AKAP2_ENST00000374525.1_Missense_Mutation_p.L516S|AKAP2_ENST00000510514.5_Missense_Mutation_p.L658S|AKAP2_ENST00000259318.7_Missense_Mutation_p.L427S	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		427							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CGTGGGCCCTTATCTAAACTG	0.577000													42	72					0	0	0.011902	0	0
SLIT2	9353	broad.mit.edu	37	4	20598061	20598061	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:20598061C>T	ENST00000504154.1	+	32	3596	c.3344C>T	c.(3343-3345)cCa>cTa	p.P1115L	SLIT2_ENST00000503837.1_Missense_Mutation_p.P1111L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1128L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1107L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1115					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAGTTTTCTCCACCCATGGTC	0.383000													14	48					0	0	0.003163	0	0
GPR179	440435	broad.mit.edu	37	17	36498979	36498979	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:36498979G>A	ENST00000342292.4	-	1	714	c.694C>T	c.(694-696)Cct>Tct	p.P232S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCAGGAAAGGAGGAGACAGC	0.602000													43	51					0	0	0.006999	0	0
FAM184A	79632	broad.mit.edu	37	6	119301317	119301317	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:119301317C>T	ENST00000338891.7	-	10	2730	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FAM184A_ENST00000368475.4_Missense_Mutation_p.E643K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.E643K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E763K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	763										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGCTCCTTTTCCTTTTCCTCT	0.318000													25	58					0	0	0.004656	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501864	90501864	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:90501864C>T	ENST00000325643.5	+	4	2528	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GTGAACACCTCCCAGGAGCTT	0.567000													22	40					0	0	0.003954	0	0
GPR61	83873	broad.mit.edu	37	1	110086536	110086536	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:110086536C>T	ENST00000527748.1	+	2	1575	c.892C>T	c.(892-894)Ctc>Ttc	p.L298F		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	298						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGTTCCTGCTCTGTTGGTT	0.602000													27	54					0	0	0.006320	0	0
THSD7B	80731	broad.mit.edu	37	2	138375985	138375985	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:138375985G>A	ENST00000409968.1	+	19	3767	c.3589G>A	c.(3589-3591)Gaa>Aaa	p.E1197K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E1200K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1169K|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCAGCTGAGTGAAAACGCACC	0.507000													16	28					0	0	0.004990	0	0
VPS39	23339	broad.mit.edu	37	15	42458808	42458808	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:42458808G>A	ENST00000318006.5	-	15	1721	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	VPS39_ENST00000348544.4_Missense_Mutation_p.S531F	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	531					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTTCAGAGGGGAGTTGGCTTT	0.547000													18	36					0	0	0.010504	0	0
URB2	9816	broad.mit.edu	37	1	229771572	229771572	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:229771572C>T	ENST00000258243.2	+	4	1348	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	404						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACAAGCACCCATACCGGCCT	0.517000													23	40					0	0	0.002780	0	0
EDIL3	10085	broad.mit.edu	37	5	83360577	83360577	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:83360577G>A	ENST00000296591.5	-	8	1312	c.894C>T	c.(892-894)ccC>ccT	p.P298P	EDIL3_ENST00000380138.3_Silent_p.P288P|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	298	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GACAAACTTGGGGATAGAGTC	0.383000													19	40					0	0	0.008871	0	0
EPHA10	284656	broad.mit.edu	37	1	38197177	38197177	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:38197177G>A	ENST00000373048.4	-	7	1568	c.1569C>T	c.(1567-1569)acC>acT	p.T523T	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.T18T|EPHA10_ENST00000427468.2_Silent_p.T523T|EPHA10_ENST00000540011.1_Silent_p.T18T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	523	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.T524T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGACGTAGCGGGTAGCCGGCT	0.587000													48	88					0	0	0.014410	0	0
CYP2J2	1573	broad.mit.edu	37	1	60370618	60370618	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:60370618C>T	ENST00000371204.3	-	7	1159	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	372					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TGATGTTGCCCATTCTCTGCA	0.557000													25	62					0	0	0.003330	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451179	105451179	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:105451179C>T	ENST00000337685.2	+	5	2539	c.1754C>T	c.(1753-1755)tCa>tTa	p.S585L	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S585L|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S585L	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	585										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						TGGCTGAAATCATTTTTGAAT	0.398000													9	3					0	0	0.008291	0	0
SPTB	6710	broad.mit.edu	37	14	65260193	65260193	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:65260193C>T	ENST00000389722.3	-	13	2241	c.2188G>A	c.(2188-2190)Gac>Aac	p.D730N	SPTB_ENST00000542895.1_Missense_Mutation_p.D730N|SPTB_ENST00000389720.3_Missense_Mutation_p.D730N|SPTB_ENST00000389721.5_Missense_Mutation_p.D730N|SPTB_ENST00000556626.1_Missense_Mutation_p.D730N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	730					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGCCAGGTCCTTCAGCTGG	0.592000													18	24					0	0	0.012319	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33596548	33596548	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:33596548C>A	ENST00000252015.2	-	13	1603	c.1514G>T	c.(1513-1515)aGt>aTt	p.S505I	TRPC4AP_ENST00000539834.1_Missense_Mutation_p.S107I|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.S497I|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.S466I			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	505					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACACACCAAACTCCTGAAATA	0.517000													28	112					5.45727e-16	9.34014e-16	0.008361	1	0
OR10G8	219869	broad.mit.edu	37	11	123900997	123900997	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:123900997C>T	ENST00000431524.1	+	1	701	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATCGTCTGTTCCATCCTGCGG	0.532000													34	35					0	0	0.003271	0	0
MUC17	140453	broad.mit.edu	37	7	100679474	100679474	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:100679474C>T	ENST00000306151.4	+	3	4841	c.4777C>T	c.(4777-4779)Ctt>Ttt	p.L1593F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1593	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCTAACACCCTTTCAACAAC	0.488000													63	143					0	0	0.014410	0	0
ZNF324	25799	broad.mit.edu	37	19	58983100	58983100	+	Missense_Mutation	SNP	A	A	G	rs1048481		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:58983100A>G	ENST00000536459.2	+	4	1950	c.1241A>G	c.(1240-1242)aAg>aGg	p.K414R	ZNF324_ENST00000535298.1_Missense_Mutation_p.K191R|ZNF324_ENST00000196482.3_Missense_Mutation_p.K414R			O75467	Z324A_HUMAN	zinc finger protein 324	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCGCTCTTTAAGCACCAGCGC	0.652000													8	25					0	0	0.004482	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138581	126138581	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:126138581G>A	ENST00000299308.3	+	9	2570	c.2562G>A	c.(2560-2562)atG>atA	p.M854I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.M366I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	854						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTCTCCCATGGAAGGGAAGA	0.512000													15	32					0	0	0.002450	0	0
MLPH	79083	broad.mit.edu	37	2	238449122	238449122	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:238449122G>T	ENST00000264605.3	+	10	1530	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	MLPH_ENST00000410032.1_Missense_Mutation_p.K269N|MLPH_ENST00000445024.2_Missense_Mutation_p.K412N|MLPH_ENST00000338530.4_Missense_Mutation_p.K384N|MLPH_ENST00000409373.1_Missense_Mutation_p.K344N|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	412							metal ion binding	p.K412N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGACGAAAAGGCAGAGCCCA	0.612000													15	14					1.05317e-09	1.78983e-09	0.002450	1	0
OR5D14	219436	broad.mit.edu	37	11	55563203	55563203	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:55563203C>T	ENST00000335605.1	+	1	172	c.172C>T	c.(172-174)Cac>Tac	p.H58Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCCCAAATTTCACACTCCTAT	0.393000													48	43					0	0	0.014410	0	0
REG3A	5068	broad.mit.edu	37	2	79384759	79384759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:79384759C>T	ENST00000393878.1	-	4	653	c.399G>A	c.(397-399)tgG>tgA	p.W133*	REG3A_ENST00000409839.3_Nonsense_Mutation_p.W133*|REG3A_ENST00000305165.2_Nonsense_Mutation_p.W133*	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	133	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GATTTCTCTCCCATGCAAAGT	0.537000													33	65					0	0	0.003271	0	0
MYO1C	4641	broad.mit.edu	37	17	1371284	1371284	+	Missense_Mutation	SNP	G	G	A	rs151000341		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:1371284G>A	ENST00000359786.5	-	28	3218	c.2894C>T	c.(2893-2895)aCc>aTc	p.T965I	MYO1C_ENST00000575158.1_Missense_Mutation_p.T930I|MYO1C_ENST00000438665.2_Missense_Mutation_p.T946I|MYO1C_ENST00000361007.2_Missense_Mutation_p.T930I|MYO1C_ENST00000545534.2_Missense_Mutation_p.T941I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	965					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGCTGACCGGTCAGGTTGGC	0.637000													27	39					0	0	0.005443	0	0
LGALS4	3960	broad.mit.edu	37	19	39303139	39303139	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:39303139G>A	ENST00000307751.4	-	2	543	c.66C>T	c.(64-66)ccC>ccT	p.P22P	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	22	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGCCCGGGATGGGCTGGTAGT	0.617000													15	36					0	0	0.004007	0	0
MYH9	4627	broad.mit.edu	37	22	36685153	36685153	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:36685153G>A	ENST00000216181.5	-	32	4765	c.4535C>T	c.(4534-4536)tCc>tTc	p.S1512F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1512					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATCATCCTTGGAGCTCATAAG	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	21					0	0	0.008291	0	0
ZFP30	22835	broad.mit.edu	37	19	38127133	38127133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:38127133C>T	ENST00000351218.2	-	6	866	c.309G>A	c.(307-309)tgG>tgA	p.W103*	ZFP30_ENST00000514101.2_Nonsense_Mutation_p.W103*|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Nonsense_Mutation_p.W103*	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCATTACCTTCCACTGAGATA	0.343000													15	38					0	0	0.002450	0	0
ZNF185	7739	broad.mit.edu	37	X	152128322	152128322	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:152128322G>A	ENST00000535861.1	+	18	1630	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S	ZNF185_ENST00000539731.1_Missense_Mutation_p.G499S|ZNF185_ENST00000318504.7_Missense_Mutation_p.G437S|ZNF185_ENST00000370270.1_Missense_Mutation_p.G259S|ZNF185_ENST00000370268.4_Missense_Mutation_p.G496S|ZNF185_ENST00000318529.8_Missense_Mutation_p.G275S|ZNF185_ENST00000449285.2_Missense_Mutation_p.G497S|ZNF185_ENST00000324823.6_Missense_Mutation_p.G264S	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	496						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCAAGAGGTGGCCAAGG	0.582000													10	7					0	0	0.006214	0	0
FGF5	2250	broad.mit.edu	37	4	81207665	81207665	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:81207665C>T	ENST00000312465.7	+	3	872	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	216					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TACCCATTTTCTGCCAAGATT	0.493000													30	68					0	0	0.013726	0	0
CHGA	1113	broad.mit.edu	37	14	93393935	93393935	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:93393935G>A	ENST00000216492.5	+	4	508	c.228G>A	c.(226-228)ctG>ctA	p.L76L	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Silent_p.L76L	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	76					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGAATTTACTGAAGGAGCTCC	0.453000													81	146					0	0	0.014410	0	0
SCN10A	6336	broad.mit.edu	37	3	38781155	38781155	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:38781155C>T	ENST00000449082.2	-	14	2130	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	711					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAGACCATTTCAGCAGTAAAA	0.413000													7	22					0	0	0.008291	0	0
ZAN	7455	broad.mit.edu	37	7	100369601	100369601	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:100369601C>T	ENST00000542585.1	+	0	5531				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGTGTGCCCAGGCTGGCCA	0.652000													5	19					0	0	0.000602	0	0
ABTB2	25841	broad.mit.edu	37	11	34226129	34226129	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:34226129G>A	ENST00000435224.2	-	2	1416	c.992C>T	c.(991-993)tCc>tTc	p.S331F	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.S145F	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	145							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGCCAGGAGGGACTGCTCCAG	0.652000													21	16					0	0	0.008871	0	0
CADPS	8618	broad.mit.edu	37	3	62498432	62498432	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:62498432C>T	ENST00000383710.4	-	17	2942	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	865	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCACCTGCATCCTTTTGATTC	0.358000													7	18					0	0	0.003080	0	0
TMED8	283578	broad.mit.edu	37	14	77808281	77808281	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:77808281C>A	ENST00000216468.7	-	6	866	c.811G>T	c.(811-813)Ggt>Tgt	p.G271C		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	271	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCATAGCGACCCCGCAAGGAG	0.602000													7	29					6.40141e-05	0.000108031	0.010729	1	0
EPN1	29924	broad.mit.edu	37	19	56203261	56203261	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:56203261C>T	ENST00000411543.2	+	7	1709	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S	EPN1_ENST00000270460.6_Missense_Mutation_p.P302S|EPN1_ENST00000085079.7_Missense_Mutation_p.P277S	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	302	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCCCCTGTCCCTCCAGCTGC	0.751000													6	15					0	0	0.001984	0	0
OR4D9	390199	broad.mit.edu	37	11	59282862	59282862	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:59282862G>A	ENST00000329328.3	+	1	477	c.477G>A	c.(475-477)caG>caA	p.Q159Q		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	159			Q -> R (in dbSNP:rs17501584).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCATAGCGCAGATTTCTCTAT	0.547000													50	36					0	0	0.014410	0	0
CD163L1	283316	broad.mit.edu	37	12	7527907	7527907	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:7527907G>A	ENST00000313599.3	-	11	3028	c.2971C>T	c.(2971-2973)Cat>Tat	p.H991Y	CD163L1_ENST00000396630.1_Missense_Mutation_p.H991Y|CD163L1_ENST00000416109.2_Missense_Mutation_p.H1001Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	991	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTATTTCCATGGATACAGGGA	0.438000													9	21					0	0	0.004482	0	0
PRPF3	9129	broad.mit.edu	37	1	150310701	150310701	+	Silent	SNP	G	G	A	rs143858139		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:150310701G>A	ENST00000324862.6	+	8	1266	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	PRPF3_ENST00000543398.1_Silent_p.S232S|PRPF3_ENST00000414970.2_Silent_p.S318S|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	367					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TCCATACTTCGACTAGGCTTG	0.428000													5	59					0	0	0.000602	0	0
TRPM4	54795	broad.mit.edu	37	19	49686006	49686006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:49686006C>T	ENST00000252826.5	+	11	1561	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Nonsense_Mutation_p.Q479*|TRPM4_ENST00000355712.5_Nonsense_Mutation_p.Q125*	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	479					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTTTTGGACCAGGCGTCCCA	0.677000													15	23					0	0	0.003163	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501865	90501865	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:90501865C>T	ENST00000325643.5	+	4	2529	c.2463C>T	c.(2461-2463)tcC>tcT	p.S821S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGAACACCTCCCAGGAGCTTT	0.572000													20	41					0	0	0.002780	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254464	30254464	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:30254464C>T	ENST00000361644.2	+	5	1160	c.423C>T	c.(421-423)gtC>gtT	p.V141V	MAGEB3_ENST00000378986.1_Silent_p.V141V	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	141	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TAAAAATTGTCCAAAAAAGCC	0.358000													21	7					0	0	0.010504	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41450331	41450331	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:41450331C>T	ENST00000599198.1	+	0	1114					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GGCAGTCATCCGTGAGATTCA	0.537000													8	17					0	0	0.004482	0	0
KSR1	8844	broad.mit.edu	37	17	25924400	25924400	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:25924400C>T	ENST00000398988.3	+	11	1440	c.995C>T	c.(994-996)tCc>tTc	p.S332F	KSR1_ENST00000509603.2_Missense_Mutation_p.S469F|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Missense_Mutation_p.S332F|KSR1_ENST00000319524.6_Missense_Mutation_p.S469F	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	467					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCCAACCCATCCAGCGCCACC	0.622000													13	13					0	0	0.001855	0	0
HIPK1	204851	broad.mit.edu	37	1	114515735	114515735	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:114515735C>T	ENST00000369558.1	+	16	3466	c.3234C>T	c.(3232-3234)tcC>tcT	p.S1078S	HIPK1_ENST00000406344.1_Silent_p.S684S|HIPK1_ENST00000369554.2_Silent_p.S1033S|HIPK1_ENST00000369555.2_Silent_p.S1033S|HIPK1_ENST00000369561.4_Silent_p.S1044S|HIPK1_ENST00000369553.1_Silent_p.S684S|HIPK1_ENST00000340480.4_Silent_p.S704S|HIPK1_ENST00000426820.2_Silent_p.S1078S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1078	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCTCTCTCCCAAGCCCCCT	0.647000													40	69					0	0	0.007835	0	0
SCN9A	6335	broad.mit.edu	37	2	167055717	167055717	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:167055717G>A	ENST00000375387.4	-	27	5775	c.5435C>T	c.(5434-5436)cCt>cTt	p.P1812L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P1800L|SCN9A_ENST00000409435.1_Missense_Mutation_p.P1811L|SCN9A_ENST00000303354.6_Missense_Mutation_p.P1812L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1811						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAGAAGAGGAGGATCCAGGGC	0.458000													39	101					0	0	0.008740	0	0
CCR3	1232	broad.mit.edu	37	3	46306885	46306885	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:46306885C>T	ENST00000357422.2	+	4	779	c.236C>T	c.(235-237)tCg>tTg	p.S79L	CCR3_ENST00000541018.1_Missense_Mutation_p.S79L|CCR3_ENST00000545097.1_Missense_Mutation_p.S100L|CCR3_ENST00000395942.2_Missense_Mutation_p.S79L|CCR3_ENST00000395940.2_Missense_Mutation_p.S79L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	79					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTGGCCATTTCGGACCTGCTC	0.512000													38	85					0	0	0.006230	0	0
SORCS2	57537	broad.mit.edu	37	4	7705054	7705054	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:7705054G>A	ENST00000507866.2	+	13	1825	c.1716G>A	c.(1714-1716)gtG>gtA	p.V572V	SORCS2_ENST00000329016.9_Silent_p.V400V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	572						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGGCGGCGTGATCGTGGCCA	0.597000													8	11					0	0	0.006214	0	0
XRCC5	7520	broad.mit.edu	37	2	217006013	217006013	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:217006013C>T	ENST00000392133.3	+	15	1908	c.1447C>T	c.(1447-1449)Cca>Tca	p.P483S	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.P483S			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	483	Pro-rich.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CACCAAAATCCCAAATCCTCG	0.383000								Non-homologous end-joining					20	51					0	0	0.012319	0	0
KRT13	3860	broad.mit.edu	37	17	39661430	39661430	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:39661430G>A	ENST00000246635.3	-	1	419	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	KRT13_ENST00000587544.1_Silent_p.L125L|KRT13_ENST00000336861.3_Silent_p.L125L	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	125	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCTCCTCCAGGGCGCGCACC	0.602000													49	56					0	0	0.014410	0	0
PHRF1	57661	broad.mit.edu	37	11	597425	597425	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:597425C>T	ENST00000264555.5	+	8	877	c.749C>T	c.(748-750)tCc>tTc	p.S250F	PHRF1_ENST00000533464.1_Missense_Mutation_p.S246F|PHRF1_ENST00000413872.2_Missense_Mutation_p.S249F|PHRF1_ENST00000416188.2_Missense_Mutation_p.S250F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	250							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGGAGGTCTCCCTGCTCTTG	0.647000													4	27					0	0	0.000602	0	0
DAGLA	747	broad.mit.edu	37	11	61503096	61503096	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:61503096C>T	ENST00000257215.5	+	11	1308	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	398					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GATCAGTATCCGGGGGACCCT	0.642000													6	46					0	0	0.001984	0	0
DYSF	8291	broad.mit.edu	37	2	71891477	71891477	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:71891477G>A	ENST00000258104.3	+	45	5243	c.4966G>A	c.(4966-4968)Gac>Aac	p.D1656N	DYSF_ENST00000410020.3_Missense_Mutation_p.D1695N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1657N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.D1674N|DYSF_ENST00000413539.2_Missense_Mutation_p.D1687N|DYSF_ENST00000409651.1_Missense_Mutation_p.D1688N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1664N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1694N|DYSF_ENST00000409366.1_Missense_Mutation_p.D1678N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1673N|DYSF_ENST00000429174.2_Missense_Mutation_p.D1677N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1656	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCTCCAAGGACGAAAAGAT	0.557000													25	51					0	0	0.003330	0	0
HARBI1	283254	broad.mit.edu	37	11	46625317	46625317	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:46625317G>A	ENST00000326737.3	-	3	1060	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	271						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCAGGCAGCGGAATCGGGAGC	0.512000													21	18					0	0	0.003330	0	0
LCE3D	84648	broad.mit.edu	37	1	152552383	152552383	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:152552383G>A	ENST00000368787.3	-	2	86	c.30C>T	c.(28-30)tgC>tgT	p.C10C		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	10					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GTGGGGGTTGGCACTGCTGCT	0.552000													20	48					0	0	0.002780	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387372	56387372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:56387372G>A	ENST00000355701.3	-	21	4717	c.3847C>T	c.(3847-3849)Cag>Tag	p.Q1283*	BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.Q1283*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.Q1223*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1283						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCTGCTTCTGGAAGGAGCAA	0.622000													41	36					0	0	0.011902	0	0
TTN	7273	broad.mit.edu	37	2	179634535	179634535	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:179634535C>T	ENST00000589042.1	-	37	8997	c.8773G>A	c.(8773-8775)Gaa>Aaa	p.E2925K	TTN_ENST00000591111.1_Missense_Mutation_p.E2925K|TTN_ENST00000342992.6_Missense_Mutation_p.E2925K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2879K|TTN_ENST00000342175.6_Missense_Mutation_p.E2879K|TTN_ENST00000359218.5_Missense_Mutation_p.E2879K|TTN_ENST00000360870.5_Missense_Mutation_p.E2925K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2663	Ig-like 16.						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)			TTGAACTTTTCACTCATCTCA	0.468000													71	156					0	0	0.014410	0	0
LINC00477	144360	broad.mit.edu	37	12	24736579	24736579	+	RNA	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:24736579G>A	ENST00000483544.1	-	0	523					NR_029451.2																						GGGGGCCCAGGACCCCACAGC	0.547000													29	56					0	0	0.008361	0	0
CYLC1	1538	broad.mit.edu	37	X	83129493	83129493	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:83129493G>A	ENST00000329312.4	+	4	1814	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	593					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGAAAAAGGGGAAAAAGCAAG	0.423000													13	1					0	0	0.013537	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	34					0	0	0.010504	0	0
GFOD2	81577	broad.mit.edu	37	16	67709904	67709904	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:67709904G>A	ENST00000268797.7	-	3	657	c.312C>T	c.(310-312)ttC>ttT	p.F104F	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	104						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCACCATCCGGAAGGCATCCA	0.532000													12	24					0	0	0.013537	0	0
BAD	572	broad.mit.edu	37	11	64037602	64037602	+	Missense_Mutation	SNP	G	G	A	rs144873026	by1000genomes	TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:64037602G>A	ENST00000544785.1	-	2	395	c.395C>T	c.(394-396)cCt>cTt	p.P132L	BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						ATAGGCCTGAGGGAAGTACTT	0.602000													4	15					0	0	0.009096	0	0
AADAC	13	broad.mit.edu	37	3	151535223	151535223	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:151535223G>A	ENST00000232892.6	+	2	334	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.E70K	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	70					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GAGCTTTGATGAAGTCCCACC	0.408000													20	41					0	0	0.007413	0	0
TENM3	55714	broad.mit.edu	37	4	183600827	183600827	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:183600827C>T	ENST00000511685.1	+	8	1458	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	TENM3_ENST00000406950.2_Silent_p.F445F					teneurin transmembrane protein 3																		AGTATGACTTCGTGGAGCTCC	0.532000													26	45					0	0	0.012213	0	0
SPHK2	56848	broad.mit.edu	37	19	49132013	49132013	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:49132013G>A	ENST00000443164.1	+	5	1839	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	SPHK2_ENST00000599748.1_Silent_p.L280L|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599029.1_Silent_p.L280L|SPHK2_ENST00000245222.4_Silent_p.L316L|SPHK2_ENST00000600537.1_Silent_p.L257L|SPHK2_ENST00000598088.1_Silent_p.L316L			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	316					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCCACCCACTGGACCTGCTCT	0.627000													32	56					0	0	0.010818	0	0
FRAS1	80144	broad.mit.edu	37	4	79300951	79300951	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:79300951G>A	ENST00000264895.6	+	27	3804	c.3364G>A	c.(3364-3366)Gat>Aat	p.D1122N	FRAS1_ENST00000325942.6_Missense_Mutation_p.D1122N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1121					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						AAAGCCACTGGATTTTTCCCT	0.458000													17	40					0	0	0.004007	0	0
RMDN3	55177	broad.mit.edu	37	15	41029490	41029490	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:41029490G>A	ENST00000260385.6	-	10	2341	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	RMDN3_ENST00000338376.3_Missense_Mutation_p.S425F					regulator of microtubule dynamics 3																		GTTTACCTTGGAAATATATAC	0.393000													44	96					0	0	0.014410	0	0
CCSER1	401145	broad.mit.edu	37	4	91229576	91229576	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:91229576C>T	ENST00000509176.1	+	2	429	c.141C>T	c.(139-141)tcC>tcT	p.S47S	CCSER1_ENST00000333691.8_Silent_p.S47S|CCSER1_ENST00000432775.2_Silent_p.S47S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CCTCTCCTTCCAGCACTAACT	0.453000													15	30					0	0	0.003163	0	0
ATP2A3	489	broad.mit.edu	37	17	3844928	3844928	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:3844928G>A	ENST00000309890.7	-	13	1716	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	ATP2A3_ENST00000359983.3_Silent_p.I522I|ATP2A3_ENST00000352011.3_Silent_p.I522I|ATP2A3_ENST00000397035.3_Silent_p.I522I|ATP2A3_ENST00000397043.3_Silent_p.I522I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.I522I	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	522					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TACAGCGCTCGATCACACTCT	0.622000													19	29					0	0	0.006122	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048706	107048706	+	RNA	SNP	C	C	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:107048706C>G	ENST00000390627.2	-	0	534																											GTCCTCGGCTCTCAGGCTGTT	0.547000													26	135					0	0	0.014410	0	0
ATRAID	51374	broad.mit.edu	37	2	27439735	27439735	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:27439735C>T	ENST00000380171.3	+	7	951	c.774C>T	c.(772-774)ttC>ttT	p.F258F	ATRAID_ENST00000606999.1_Silent_p.F203F|ATRAID_ENST00000405489.3_Silent_p.F145F	NM_080592.3	NP_542159.3			all-trans retinoic acid-induced differentiation factor																		TGCTTATGTTCTTCGGGATTC	0.498000													58	63					0	0	0.014410	0	0
SRRM3	222183	broad.mit.edu	37	7	75877512	75877512	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:75877512G>A	ENST00000388802.4	+	3	449	c.240G>A	c.(238-240)tcG>tcA	p.S80S	SRRM3_ENST00000326382.8_Silent_p.S80S					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GCAGGTATTCGGAGGAGGAGA	0.637000													9	12					0	0	0.006214	0	0
ARL16	339231	broad.mit.edu	37	17	79650840	79650840	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:79650840C>T	ENST00000397498.4	-	1	114	c.16G>A	c.(16-18)Ggg>Agg	p.G6R		NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	6							GTP binding	p.G6R(1)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AAGGCCCGCCCACCGGCCACT	0.637000													14	18					0	0	0.004007	0	0
DSE	29940	broad.mit.edu	37	6	116757798	116757798	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:116757798C>T	ENST00000331677.3	+	7	2611	c.2167C>T	c.(2167-2169)Cgg>Tgg	p.R723W	DSE_ENST00000359564.2_Missense_Mutation_p.R723W|DSE_ENST00000537543.1_Missense_Mutation_p.R742W|DSE_ENST00000452085.3_Missense_Mutation_p.R723W			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	723					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCTGTTTGACCGGAATTCAGC	0.488000													38	59					0	0	0.004878	0	0
OR2T3	343173	broad.mit.edu	37	1	248637526	248637526	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:248637526C>T	ENST00000359594.2	+	1	900	c.875C>T	c.(874-876)cCc>cTc	p.P292L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGCTGAACCCCCTCATTTAC	0.493000													27	215					0	0	0.013726	0	0
ARMC9	80210	broad.mit.edu	37	2	232141433	232141433	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:232141433C>T	ENST00000349938.4	+	15	1613	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	473							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCCTGTCTGACTACACGCTGG	0.572000													39	78					0	0	0.007835	0	0
CD84	8832	broad.mit.edu	37	1	160535509	160535509	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:160535509C>T	ENST00000368054.3	-	2	108	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	CD84_ENST00000368048.3_Missense_Mutation_p.E25K|CD84_ENST00000534968.1_Intron|CD84_ENST00000311224.4_Missense_Mutation_p.E25K|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.E25K	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	25					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTGAAGATTTCTGAGTCTTTT	0.423000													11	16					0	0	0.008291	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:136599532C>T	ENST00000531224.1	-	4	739	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTGTTTTTCCTGAGACCCT	0.433000													32	225					0	0	0.010818	0	0
TRMT1	55621	broad.mit.edu	37	19	13227162	13227162	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:13227162G>A	ENST00000592062.1	-	3	622	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	TRMT1_ENST00000221504.8_Missense_Mutation_p.L18F|TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000437766.1_Missense_Mutation_p.L18F|TRMT1_ENST00000357720.4_Missense_Mutation_p.L18F			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	18							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCTCTAGAGAGCACCCGGGCG	0.647000													26	41					0	0	0.004656	0	0
CHL1	10752	broad.mit.edu	37	3	447335	447335	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:447335G>A	ENST00000256509.2	+	28	4258	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K	CHL1_ENST00000397491.2_Missense_Mutation_p.E1190K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1190					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGGATCTAAGGAGAAGGGATC	0.468000													15	34					0	0	0.004990	0	0
DCLK3	85443	broad.mit.edu	37	3	36779026	36779026	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:36779026G>A	ENST00000416516.2	-	2	1615	c.1125C>T	c.(1123-1125)caC>caT	p.H375H		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	375	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGTCTCGCGGTGTCTGCACT	0.547000													21	38					0	0	0.010504	0	0
GPR68	8111	broad.mit.edu	37	14	91701062	91701062	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:91701062G>A	ENST00000535815.1	-	2	673	c.333C>T	c.(331-333)ttC>ttT	p.F111F	GPR68_ENST00000238699.3_Silent_p.F121F|GPR68_ENST00000531499.2_Silent_p.F111F	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	111					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGCAGCAGAGGAAGCCCACGC	0.632000													6	8					0	0	0.001168	0	0
SCN11A	11280	broad.mit.edu	37	3	38888937	38888937	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:38888937G>A	ENST00000450244.1	-	26	4822	c.4624C>T	c.(4624-4626)Ctc>Ttc	p.L1542F	SCN11A_ENST00000302328.3_Missense_Mutation_p.L1542F|SCN11A_ENST00000456224.3_Missense_Mutation_p.L1504F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1542					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGAGACAGAGCATGCTGCTG	0.448000													13	34					0	0	0.003163	0	0
PARM1	25849	broad.mit.edu	37	4	75937680	75937680	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:75937680C>T	ENST00000307428.7	+	2	301	c.89C>T	c.(88-90)tCt>tTt	p.S30F	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	30					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TTGTCTGTTTCTCTTCCGACA	0.473000													16	42					0	0	0.006122	0	0
SDK2	54549	broad.mit.edu	37	17	71410896	71410896	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:71410896G>A	ENST00000392650.3	-	18	2371	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	SDK2_ENST00000388726.3_Missense_Mutation_p.P791S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	791	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGACCGTGGGAACTAGAGGA	0.612000													14	30					0	0	0.004007	0	0
CTR9	9646	broad.mit.edu	37	11	10786220	10786220	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:10786220C>T	ENST00000361367.2	+	12	1965	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	513					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGTGTGAATTCCATGAAGCAG	0.378000													13	15					0	0	0.002450	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184600	130184600	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:130184600C>T	ENST00000422113.2	-	2	1049	c.723G>A	c.(721-723)agG>agA	p.R241R		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	241						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCGCGTCTTCCCTGACGCAGT	0.632000													16	51					0	0	0.007413	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934717	186934717	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:186934717C>T	ENST00000367466.3	+	15	1908	c.1756C>T	c.(1756-1758)Ccg>Tcg	p.P586S	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P526S	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	586	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CTCTAGTCCTCCGTTCAAGGT	0.428000													16	48					0	0	0.006122	0	0
LILRA2	11027	broad.mit.edu	37	19	55086385	55086385	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:55086385C>T	ENST00000251377.3	+	5	673	c.540C>T	c.(538-540)ttC>ttT	p.F180F	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.F180F|LILRA2_ENST00000391737.1_Silent_p.F168F|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.F180F					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGGCCATCTTCTCCGTGGGCC	0.567000													43	87					0	0	0.007835	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089084	220089084	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:220089084C>T	ENST00000366926.3	-	4	1326	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E144K	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	389					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TCCAGGGGTTCCTTCAAGTCC	0.522000													32	74					0	0	0.010818	0	0
GIMAP4	55303	broad.mit.edu	37	7	150270114	150270114	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:150270114C>T	ENST00000255945.2	+	3	1131	c.956C>T	c.(955-957)tCc>tTc	p.S319F	GIMAP4_ENST00000461940.1_Missense_Mutation_p.S333F	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	319							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGATTGCTTCCTTTATTTTG	0.403000													17	29					0	0	0.007413	0	0
STK17A	9263	broad.mit.edu	37	7	43663441	43663441	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:43663441G>C	ENST00000319357.5	+	6	1053	c.874G>C	c.(874-876)Gag>Cag	p.E292Q		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	292	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGTTTTGTCTGAGTCGGCTGT	0.279000													10	47					0	0	0.001855	0	0
SAMHD1	25939	broad.mit.edu	37	20	35563580	35563580	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:35563580G>A	ENST00000262878.4	-	4	560	c.361C>T	c.(361-363)Cct>Tct	p.P121S	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	121					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CCATGGATAGGATCATTAATT	0.383000													14	64					0	0	0.001855	0	0
APOB	338	broad.mit.edu	37	2	21230280	21230280	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:21230280C>T	ENST00000233242.1	-	26	9587	c.9460G>A	c.(9460-9462)Gaa>Aaa	p.E3154K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3154					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTGTTTTTTCCCATAGAGAG	0.348000													328	337					0	0	0.014410	0	0
IGLON5	402665	broad.mit.edu	37	19	51832013	51832013	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:51832013G>A	ENST00000270642.8	+	8	1011	c.1011G>A	c.(1009-1011)taG>taA	p.*337*		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	0						extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						GGAGAATGTAGGCGCAACCCA	0.682000													3	4					0	0	0.009096	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713174	70713174	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:70713174C>T	ENST00000530196.1	-	0	1344					NR_003951.1																						ATAAAGATTTCCCCCAATCTT	0.458000													17	45					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179611763	179611763	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:179611763C>T	ENST00000360870.5	-	46	15586	c.15364G>A	c.(15364-15366)Gga>Aga	p.G5122R	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1228	Ig-like 31.						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)			TTTGGTCCTCCAGTAGGAATA	0.468000													49	59					0	0	0.014410	0	0
CYP2S1	29785	broad.mit.edu	37	19	41707228	41707228	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:41707228C>T	ENST00000310054.4	+	6	1143	c.927C>T	c.(925-927)acC>acT	p.T309T	CYP2S1_ENST00000542619.1_Silent_p.T34T	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	309					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CGGTCAGCACCACGGTCGGCT	0.488000													40	87					0	0	0.014410	0	0
PLCH1	23007	broad.mit.edu	37	3	155241724	155241724	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:155241724C>T	ENST00000460012.1	-	11	1699	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	PLCH1_ENST00000447496.2_Missense_Mutation_p.D466N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D448N|PLCH1_ENST00000494598.1_Missense_Mutation_p.D466N|PLCH1_ENST00000334686.6_Missense_Mutation_p.D448N|PLCH1_ENST00000340059.7_Missense_Mutation_p.D466N			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	466					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCAATTTCATCTGCACTGTCC	0.388000													37	78					0	0	0.007835	0	0
PIWIL4	143689	broad.mit.edu	37	11	94326773	94326773	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:94326773C>T	ENST00000299001.6	+	9	1327	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	372	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGCTCAGCTCGCCCACCTGA	0.463000													7	57					0	0	0.003080	0	0
TMEM11	8834	broad.mit.edu	37	17	21102045	21102045	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:21102045G>T	ENST00000317635.5	-	2	642	c.171C>A	c.(169-171)taC>taA	p.Y57*	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	57					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAATGTACTTGTACTGGGCTT	0.587000													12	40					5.50884e-06	9.31302e-06	0.013537	1	0
SSR1	6745	broad.mit.edu	37	6	7295626	7295626	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:7295626G>A	ENST00000244763.4	-	7	878	c.793_splice	c.e7+1	p.I264_splice	SSR1_ENST00000479365.1_Silent_p.I264I|RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000489567.1_Splice_Site_p.I196_splice|SSR1_ENST00000474597.1_Splice_Site_p.I264_splice|SSR1_ENST00000534851.1_Splice_Site_p.I237_splice|SSR1_ENST00000397511.2_Splice_Site_p.I264_splice	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	264					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					ACTACTTACTGATTTGATTCA	0.323000													15	20					0	0	0.004990	0	0
NEFH	4744	broad.mit.edu	37	22	29885554	29885554	+	Missense_Mutation	SNP	C	C	T	rs117258406	by1000genomes	TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:29885554C>T	ENST00000310624.6	+	4	1958	c.1925C>T	c.(1924-1926)aCg>aTg	p.T642M		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	642	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGTCTCCAACGAAGGAGGAA	0.552000													10	36					0	0	0.010729	0	0
DMBT1	1755	broad.mit.edu	37	10	124402843	124402843	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr10:124402843G>A	ENST00000368909.3	+	53	7277	c.7171G>A	c.(7171-7173)Gaa>Aaa	p.E2391K	DMBT1_ENST00000368956.2_Missense_Mutation_p.E1763K|DMBT1_ENST00000359586.6_Missense_Mutation_p.E1111K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E2381K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E2381K|DMBT1_ENST00000338354.3_Missense_Mutation_p.E2391K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1763K	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2391					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.E2391K(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCCTACCAGGAAAAGGTGGA	0.617000													39	11					0	0	0.004878	0	0
TFPI	7035	broad.mit.edu	37	2	188361661	188361661	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:188361661C>T	ENST00000233156.3	-	3	560	c.266G>A	c.(265-267)gGa>gAa	p.G89E	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.G89E|TFPI_ENST00000339091.4_Missense_Mutation_p.G89E|TFPI_ENST00000392365.1_Missense_Mutation_p.G89E|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	89	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATTCTGATTTCCTTCACATCC	0.388000													19	54					0	0	0.012319	0	0
GALNT8	26290	broad.mit.edu	37	12	4835880	4835880	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:4835880C>T	ENST00000252318.2	+	2	731	c.394C>T	c.(394-396)Ctt>Ttt	p.L132F	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	132						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGGCGAGGATCTTTCTGAGGC	0.522000													13	13					0	0	0.013537	0	0
ZNF677	342926	broad.mit.edu	37	19	53740523	53740523	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:53740523G>A	ENST00000333952.4	-	5	1622	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	ZNF677_ENST00000598513.1_Missense_Mutation_p.P486L			Q86XU0	ZN677_HUMAN	zinc finger protein 677	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P486H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ACATTTGTAAGGTTTCTCTCC	0.363000													27	52					0	0	0.007291	0	0
MYH3	4621	broad.mit.edu	37	17	10538768	10538768	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:10538768G>A	ENST00000583535.1	-	30	4175	c.4088C>T	c.(4087-4089)tCc>tTc	p.S1363F	MYH3_ENST00000226209.7_Missense_Mutation_p.S1363F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1363					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATTGGCCTTGGACAGCGCCCT	0.612000													56	107					0	0	0.014410	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625713	140625713	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:140625713G>A	ENST00000231173.3	+	1	567	c.567G>A	c.(565-567)agG>agA	p.R189R		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		189	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGATGGCAGGAAATACCCAG	0.537000													11	22					0	0	0.013537	0	0
ZFP82	284406	broad.mit.edu	37	19	36884104	36884104	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:36884104G>A	ENST00000392161.3	-	5	1380	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	ZFP82_ENST00000392171.1_Missense_Mutation_p.H380Y	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAATAAGATGATAACCACGG	0.393000													33	53					0	0	0.013726	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696912	128696912	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:128696912C>T	ENST00000265068.5	-	5	951	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.E150K|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E262K	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	262										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGTGTTTTTCTGTTTTTTCT	0.463000													20	51					0	0	0.008871	0	0
KIAA1024	23251	broad.mit.edu	37	15	79760663	79760663	+	Silent	SNP	C	C	T	rs151300850	byFrequency	TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:79760663C>T	ENST00000305428.3	+	4	2763	c.2688C>T	c.(2686-2688)atC>atT	p.I896I		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	896						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CTGCTCTGATCGCTGCTGCGG	0.458000													7	14					0	0	0.004482	0	0
OR4K1	79544	broad.mit.edu	37	14	20403841	20403841	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:20403841G>A	ENST00000285600.4	+	1	75	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACACAAATGAATCGATGGT	0.343000													78	316					0	0	0.014410	0	0
AGAP11	119385	broad.mit.edu	37	10	88752040	88752040	+	RNA	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr10:88752040G>A	ENST00000433214.2	+	0	401																											AGCCACTGTGGAGACTAAGGA	0.413000													9	22					0	0	0.006214	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403074	1403074	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:1403074G>A	ENST00000270349.9	-	13	1857	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A577V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	577	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GAACTTGTAGGCCGCATAGAT	0.632000													11	21					0	0	0.001855	0	0
VSX1	30813	broad.mit.edu	37	20	25057171	25057171	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:25057171G>A	ENST00000376709.4	-	5	1087	c.824C>T	c.(823-825)tCc>tTc	p.S275F	VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	275	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						CATCCCCATGGATTTTTTATG	0.348000													67	54					0	0	0.014410	0	0
CNTN3	5067	broad.mit.edu	37	3	74334608	74334608	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:74334608G>A	ENST00000263665.6	-	19	2579	c.2552C>T	c.(2551-2553)tCa>tTa	p.S851L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	851	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTACTGGATGATTCCTCCTT	0.498000													50	81					0	0	0.014410	0	0
TMEM11	8834	broad.mit.edu	37	17	21102044	21102044	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:21102044T>G	ENST00000317635.5	-	2	643	c.172A>C	c.(172-174)Aag>Cag	p.K58Q	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	58					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						ACAATGTACTTGTACTGGGCT	0.592000													12	41					0	0	0.013537	0	0
SPDYA	245711	broad.mit.edu	37	2	29063268	29063268	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:29063268G>A	ENST00000334056.5	+	7	972	c.783G>A	c.(781-783)caG>caA	p.Q261Q	SPDYA_ENST00000379579.4_Silent_p.Q261Q|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	261					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AACATTCTCAGGACTCATACA	0.368000													30	35					0	0	0.008361	0	0
TMEM241	85019	broad.mit.edu	37	18	20936574	20936574	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr18:20936574C>T	ENST00000383233.3	-	12	707	c.655G>A	c.(655-657)Ggt>Agt	p.G219S	TMEM241_ENST00000450466.2_Missense_Mutation_p.G98S|TMEM241_ENST00000542162.1_3'UTR	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	219						integral to membrane											CAGCAGCTACCATGGAATCTG	0.502000													12	31					0	0	0.002450	0	0
F2RL3	9002	broad.mit.edu	37	19	17001310	17001310	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:17001310G>A	ENST00000248076.3	+	2	1366	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	346					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGTGTCGGCCGAGTTCAGGGA	0.672000													12	14					0	0	0.010729	0	0
SHROOM4	57477	broad.mit.edu	37	X	50345803	50345803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:50345803G>A	ENST00000376020.2	-	7	3797	c.3772C>T	c.(3772-3774)Cag>Tag	p.Q1258*	SHROOM4_ENST00000289292.7_Nonsense_Mutation_p.Q1258*|SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.Q1142*	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1258	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAAAAGTGCTGAAACTCTTGT	0.448000													21	7					0	0	0.012319	0	0
FAM135A	57579	broad.mit.edu	37	6	71235823	71235823	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:71235823C>T	ENST00000418814.2	+	15	3650	c.3036C>T	c.(3034-3036)atC>atT	p.I1012I	FAM135A_ENST00000505868.1_Silent_p.I1012I|FAM135A_ENST00000370479.3_Silent_p.I799I|FAM135A_ENST00000361499.3_Silent_p.I816I|FAM135A_ENST00000505769.1_Silent_p.I592I|FAM135A_ENST00000457062.2_Silent_p.I799I	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1012										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTCAGAAATCCCTACAGTTG	0.338000													15	49					0	0	0.003163	0	0
DENND4C	55667	broad.mit.edu	37	9	19346438	19346438	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:19346438C>T	ENST00000307015.9	+	19	2987	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	DENND4C_ENST00000380432.2_Missense_Mutation_p.S939F|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1224F|DENND4C_ENST00000602925.1_Missense_Mutation_p.S1175F|DENND4C_ENST00000540671.1_Missense_Mutation_p.S269F			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	939						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAAACAGTATCCAAAGATCTG	0.383000													16	41					0	0	0.006122	0	0
KIAA0101	9768	broad.mit.edu	37	15	64673543	64673543	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:64673543G>A	ENST00000300035.4	-	1	166	c.28C>T	c.(28-30)Cca>Tca	p.P10S	KIAA0101_ENST00000380258.2_Missense_Mutation_p.P10S|KIAA0101_ENST00000558008.1_Missense_Mutation_p.P10S|KIAA0101_ENST00000560234.1_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.P10S	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	10						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						TAAGTGCCTGGAACACTGTCT	0.597000													62	129					0	0	0.014410	0	0
FOLH1B	219595	broad.mit.edu	37	11	89405092	89405092	+	RNA	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:89405092G>A	ENST00000532352.1	+	0	1032							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.W73C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGGACTCATGGGTGTTTGGTG	0.413000													42	48					0	0	0.014410	0	0
MIR381HG	378881	broad.mit.edu	37	14	101515912	101515912	+	RNA	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:101515912G>A	ENST00000553692.1	+	0	28				MIR655_ENST00000362159.2_RNA																							TTTGAGGAGAGGTTATCCGTG	0.458000													24	54					0	0	0.004656	0	0
FAP	2191	broad.mit.edu	37	2	163045640	163045640	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:163045640G>A	ENST00000188790.4	-	19	1799	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	FAP_ENST00000443424.1_Missense_Mutation_p.S506L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	531					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATACTTCTTTGATCTGTCAAA	0.294000													30	41					0	0	0.012213	0	0
CCDC61	729440	broad.mit.edu	37	19	46498700	46498700	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:46498700C>T	ENST00000263284.2	+	2	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F						coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AACGCCGGATCCTGGGGCGGG	0.622000													9	10					0	0	0.001855	0	0
MPPED2	744	broad.mit.edu	37	11	30433034	30433034	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:30433034G>A	ENST00000358117.5	-	6	988	c.866C>T	c.(865-867)cCa>cTa	p.P289L	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	289					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTGTGGGTTTGGAAGGTCAAA	0.423000													22	17					0	0	0.014323	0	0
NBEAL2	23218	broad.mit.edu	37	3	47033334	47033334	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:47033334C>T	ENST00000450053.3	+	9	1109	c.930C>T	c.(928-930)gcC>gcT	p.A310A	NBEAL2_ENST00000292309.5_Silent_p.A310A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	310							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCACAGACGCCATCCCCATGA	0.562000													3	5					0	0	0.009096	0	0
NUTM1	256646	broad.mit.edu	37	15	34640773	34640773	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:34640773C>T	ENST00000537011.1	+	3	1086	c.704C>T	c.(703-705)tCc>tTc	p.S235F	NUTM1_ENST00000438749.3_Missense_Mutation_p.S225F|NUTM1_ENST00000333756.4_Missense_Mutation_p.S207F					NUT midline carcinoma, family member 1																		TCCAAAATTTCCAAGGACGTT	0.552000													16	37					0	0	0.004990	0	0
HCN2	610	broad.mit.edu	37	19	615813	615813	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:615813T>G	ENST00000251287.2	+	8	2062	c.2009T>G	c.(2008-2010)cTc>cGc	p.L670R		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	670					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATTCCATCCTCCTGCACAAG	0.607000													8	36					0	0	0.004482	0	0
BRD1	23774	broad.mit.edu	37	22	50217637	50217637	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:50217637G>A	ENST00000216267.8	-	1	815	c.329C>T	c.(328-330)aCg>aTg	p.T110M	BRD1_ENST00000404034.1_Missense_Mutation_p.T110M|BRD1_ENST00000457780.2_Missense_Mutation_p.T110M|BRD1_ENST00000404760.1_Missense_Mutation_p.T110M	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	110					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGAGGCCGGCGTGCCGTGGGC	0.602000													21	69					0	0	0.003330	0	0
PCLO	27445	broad.mit.edu	37	7	82544898	82544898	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:82544898C>T	ENST00000423517.2	-	7	12741	c.12404G>A	c.(12403-12405)gGg>gAg	p.G4135E	PCLO_ENST00000437081.1_Missense_Mutation_p.G855E|PCLO_ENST00000333891.8_Missense_Mutation_p.G4135E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4066					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G4135L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCTCTGTCCCTCTACGAAA	0.403000													27	63					0	0	0.007291	0	0
OBSCN	84033	broad.mit.edu	37	1	228482539	228482539	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:228482539G>A	ENST00000570156.2	+	48	12815	c.12741G>A	c.(12739-12741)acG>acA	p.T4247T	OBSCN_ENST00000359599.6_Silent_p.T2665T|OBSCN_ENST00000422127.1_Silent_p.T3818T|OBSCN_ENST00000284548.11_Silent_p.T3818T|OBSCN_ENST00000366709.4_Silent_p.T937T|OBSCN_ENST00000366707.4_Silent_p.T937T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3290					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGGGGCCACGGCCGTGCTGC	0.582000													40	86					0	0	0.006230	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761744	130761744	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:130761744C>T	ENST00000392429.1	+	2	2555	c.177C>T	c.(175-177)tcC>tcT	p.S59S	TMEM200A_ENST00000545622.1_Silent_p.S59S|TMEM200A_ENST00000296978.3_Silent_p.S59S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	59						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGCTTTATTCCCCATCTGGTT	0.478000													64	78					0	0	0.014410	0	0
TICAM1	148022	broad.mit.edu	37	19	4816401	4816401	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:4816401G>A	ENST00000248244.5	-	2	2218	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	663	Pro-rich.|Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGCCGTAGGGAAGGCTGGGG	0.667000													13	36					0	0	0.001855	0	0
XRN2	22803	broad.mit.edu	37	20	21369916	21369916	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:21369916T>G	ENST00000377191.3	+	30	2888	c.2793T>G	c.(2791-2793)taT>taG	p.Y931*	XRN2_ENST00000430571.2_Nonsense_Mutation_p.Y855*|XRN2_ENST00000539513.1_Nonsense_Mutation_p.Y877*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	931					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTCAGGGATATCCCAGAGAAG	0.368000													3	37					0	0	0.009096	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209985	65209985	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:65209985C>T	ENST00000247226.7	+	15	3364	c.3056C>T	c.(3055-3057)cCc>cTc	p.P1019L	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.P608L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P1075L|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.P580L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1075					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		cgcggcccACCCGTCAACAGG	0.706000													10	20					0	0	0.006214	0	0
SCN2A	6326	broad.mit.edu	37	2	166168556	166168556	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:166168556G>A	ENST00000357398.3	+	8	1282	c.992G>A	c.(991-993)gGg>gAg	p.G331E	SCN2A_ENST00000283256.6_Missense_Mutation_p.G331E|SCN2A_ENST00000375427.2_Missense_Mutation_p.G331E|SCN2A_ENST00000375437.2_Missense_Mutation_p.G331E			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	331					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTTTAGAGGGGCAAAATGAT	0.408000													10	21					0	0	0.008291	0	0
PLXNA1	5361	broad.mit.edu	37	3	126730847	126730847	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:126730847G>T	ENST00000251772.4	+	9	2159	c.2090G>T	c.(2089-2091)gGa>gTa	p.G697V	PLXNA1_ENST00000393409.2_Missense_Mutation_p.G720V			Q9UIW2	PLXA1_HUMAN	plexin A1	720					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGCCAGTGGGAGTGGTAAAA	0.632000													25	42					1.5548e-18	2.66576e-18	0.005443	1	0
FLVCR1	28982	broad.mit.edu	37	1	213046037	213046037	+	Missense_Mutation	SNP	C	C	T	rs144013956		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:213046037C>T	ENST00000366971.4	+	3	1099	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	301					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		AGAAAAACCTCGGTATCCACC	0.313000													9	30					0	0	0.004482	0	0
ELAVL4	1996	broad.mit.edu	37	1	50575633	50575633	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:50575633G>A	ENST00000371821.1	+	1	336	c.21G>A	c.(19-21)aaG>aaA	p.K7K	ELAVL4_ENST00000371819.1_Silent_p.K7K|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371823.4_Intron|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000448907.2_Intron			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	0					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATGGCTTGAAGATGGTAAGTG	0.478000													13	25					0	0	0.004007	0	0
DSE	29940	broad.mit.edu	37	6	116757797	116757797	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:116757797C>T	ENST00000331677.3	+	7	2610	c.2166C>T	c.(2164-2166)gaC>gaT	p.D722D	DSE_ENST00000359564.2_Silent_p.D722D|DSE_ENST00000537543.1_Silent_p.D741D|DSE_ENST00000452085.3_Silent_p.D722D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	722					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTCTGTTTGACCGGAATTCAG	0.493000													37	60					0	0	0.004289	0	0
SEC13	6396	broad.mit.edu	37	3	10353760	10353760	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:10353760G>A	ENST00000397117.1	-	5	888	c.297C>T	c.(295-297)ccC>ccT	p.P99P	SEC13_ENST00000350697.3_Silent_p.P113P|SEC13_ENST00000337354.4_Silent_p.P116P|SEC13_ENST00000383801.2_Silent_p.P159P|SEC13_ENST00000397109.3_Silent_p.P99P			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	113					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CGTAGTCATGGGGGGCCCAGC	0.602000													6	7					0	0	0.001168	0	0
SAMD15	161394	broad.mit.edu	37	14	77845406	77845406	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:77845406G>A	ENST00000216471.4	+	1	1931	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	549	SAM.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGATCCAGAGGAAGTTGCAGA	0.418000													17	29					0	0	0.004007	0	0
WDR49	151790	broad.mit.edu	37	3	167254669	167254669	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:167254669G>A	ENST00000308378.3	-	7	1192	c.887C>T	c.(886-888)aCt>aTt	p.T296I	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.T360I|WDR49_ENST00000476376.1_Missense_Mutation_p.T121I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	296										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CGTAACAAGAGTTTGTGGAGG	0.383000													14	24					0	0	0.002450	0	0
LRRC32	2615	broad.mit.edu	37	11	76371809	76371809	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:76371809G>A	ENST00000407242.2	-	3	1070	c.828C>T	c.(826-828)ctC>ctT	p.L276L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L276L|LRRC32_ENST00000404995.1_Silent_p.L276L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	276						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGAGCCGGATGAGGTTGTTGG	0.642000													39	24					0	0	0.006999	0	0
COL4A5	1287	broad.mit.edu	37	X	107863576	107863576	+	Missense_Mutation	SNP	G	G	T	rs104886355		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:107863576G>T	ENST00000328300.6	+	31	2841	c.2597G>T	c.(2596-2598)gGg>gTg	p.G866V	COL4A5_ENST00000361603.2_Missense_Mutation_p.G866V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	866	Triple-helical region.		G -> E (in APSX; adult type).|Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCAGTCCAGGGATCCCCGGA	0.512000									Alport syndrome with Diffuse Leiomyomatosis				32	14					1.45844e-13	2.48731e-13	0.013726	1	0
IP6K3	117283	broad.mit.edu	37	6	33690634	33690634	+	Missense_Mutation	SNP	G	G	A	rs146926476	byFrequency	TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:33690634G>A	ENST00000451316.1	-	7	1631	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	IP6K3_ENST00000293756.4_Missense_Mutation_p.R366C	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	366					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCAATCATGCGGATGTCAACC	0.567000													43	90					0	0	0.013114	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869718	22869718	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:22869718G>A	ENST00000302097.3	-	2	489	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATATTGACGGAAGTGGCCTT	0.463000													32	59					0	0	0.010818	0	0
SUCO	51430	broad.mit.edu	37	1	172558246	172558246	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:172558246C>T	ENST00000367723.3	+	17	2585	c.2461C>T	c.(2461-2463)Cct>Tct	p.P821S	SUCO_ENST00000263688.3_Missense_Mutation_p.P669S	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CTTACTACTTCCTGCGGAATC	0.418000													30	40					0	0	0.010818	0	0
SYCP2L	221711	broad.mit.edu	37	6	10935409	10935409	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:10935409C>T	ENST00000283141.6	+	21	2098	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	601						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAAGATTCTGCCCAGAAAACA	0.318000													15	24					0	0	0.008871	0	0
SUCO	51430	broad.mit.edu	37	1	172526543	172526543	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:172526543C>T	ENST00000367723.3	+	5	1168	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	SUCO_ENST00000263688.3_Silent_p.V189V	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CTTCCTTTGTCAGTCCACCTG	0.433000													47	79					0	0	0.014410	0	0
ZNF141	7700	broad.mit.edu	37	4	367297	367297	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:367297T>A	ENST00000240499.7	+	4	1220	c.1071T>A	c.(1069-1071)caT>caA	p.H357Q	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	357					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGAATGAACATAAGAAAGTTC	0.403000													5	26					0	0	0.000602	0	0
DDR1	780	broad.mit.edu	37	6	30858825	30858825	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:30858825C>T	ENST00000324771.8	+	7	1041	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	DDR1_ENST00000513240.1_Missense_Mutation_p.R165C|DDR1_ENST00000508312.1_Missense_Mutation_p.R183C|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000452441.1_Missense_Mutation_p.R165C|DDR1_ENST00000376575.3_Missense_Mutation_p.R165C|DDR1_ENST00000446312.1_Missense_Mutation_p.R165C|DDR1_ENST00000376568.3_Missense_Mutation_p.R165C|DDR1_ENST00000376567.2_Missense_Mutation_p.R165C|DDR1_ENST00000454612.2_Missense_Mutation_p.R165C|DDR1_ENST00000376570.4_Missense_Mutation_p.R165C|DDR1_ENST00000418800.2_Missense_Mutation_p.R165C|DDR1_ENST00000376569.3_Missense_Mutation_p.R165C			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	165	F5/8 type C.			R -> H (in Ref. 14; AAH70070).	cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCGACTGGTTCGCTTCTACCC	0.632000													28	70					0	0	0.008361	0	0
CPO	130749	broad.mit.edu	37	2	207814409	207814409	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:207814409C>T	ENST00000272852.3	+	2	183	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	46					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GAGACGTATTCCTATAACATA	0.478000													15	64					0	0	0.004990	0	0
LCE1E	353135	broad.mit.edu	37	1	152759753	152759753	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:152759753G>A	ENST00000368770.3	+	2	31		c.e2-1		LCE1E_ENST00000368771.1_Splice_Site	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E						keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCCTCAGCTCCTAAGTA	0.557000													63	127					0	0	0.014410	0	0
MYO1B	4430	broad.mit.edu	37	2	192141644	192141644	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:192141644C>T	ENST00000392318.3	+	2	270	c.23C>T	c.(22-24)aCc>aTc	p.T8I	MYO1B_ENST00000304164.4_Missense_Mutation_p.T8I|MYO1B_ENST00000339514.4_Missense_Mutation_p.T8I|MYO1B_ENST00000392316.1_Missense_Mutation_p.T8I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	8						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAGGTGAAAACCTCACTTCTG	0.433000													51	46					0	0	0.014410	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292670	4292670	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:4292670C>T	ENST00000301272.2	-	5	820	c.775G>A	c.(775-777)Gtc>Atc	p.V259I	TMIGD2_ENST00000600349.1_Missense_Mutation_p.V87I|TMIGD2_ENST00000595645.1_Missense_Mutation_p.V255I|TMIGD2_ENST00000600114.1_Missense_Mutation_p.V139I	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	259	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGACCCTGACCATAGAGACG	0.682000													33	61					0	0	0.009535	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303613	7303613	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:7303613G>A	ENST00000537408.1	+	15	3055	c.2517G>A	c.(2515-2517)ccG>ccA	p.P839P	CLSTN3_ENST00000266546.6_Silent_p.P827P			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	827					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCAGCCCCCGCCTGAGATGG	0.647000													11	6					0	0	0.013537	0	0
TMEM35	59353	broad.mit.edu	37	X	100349606	100349606	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:100349606G>A	ENST00000372930.4	+	2	448	c.165G>A	c.(163-165)aaG>aaA	p.K55K	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	55						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CTCTGCTGAAGAAAATGGGGA	0.453000													47	11					0	0	0.014410	0	0
NLRP5	126206	broad.mit.edu	37	19	56539800	56539800	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:56539800G>C	ENST00000390649.3	+	7	2201	c.2201G>C	c.(2200-2202)cGg>cCg	p.R734P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	734						mitochondrion|nucleolus	ATP binding	p.R734P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCGTATTTGCGGAAAATTCGG	0.507000													64	126					0	0	0.014410	0	0
DENND2A	27147	broad.mit.edu	37	7	140301627	140301627	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:140301627G>A	ENST00000275884.6	-	2	988	c.571C>T	c.(571-573)Cct>Tct	p.P191S	DENND2A_ENST00000492720.1_Missense_Mutation_p.P191S|DENND2A_ENST00000537639.1_Missense_Mutation_p.P191S|DENND2A_ENST00000496613.1_Missense_Mutation_p.P191S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	191										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTGTCAGGAGGGCAGTGTGGG	0.617000													31	47					0	0	0.009535	0	0
KMT2A	4297	broad.mit.edu	37	11	118368764	118368764	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:118368764G>A	ENST00000534358.1	+	21	5801	c.5778G>A	c.(5776-5778)atG>atA	p.M1926I	KMT2A_ENST00000389506.5_Missense_Mutation_p.M1923I|KMT2A_ENST00000354520.4_Missense_Mutation_p.M1885I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ATGTGCATATGGCTGTGATCA	0.413000													40	42					0	0	0.007835	0	0
NETO1	81832	broad.mit.edu	37	18	70526090	70526090	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr18:70526090C>T	ENST00000327305.6	-	4	1097	c.440G>A	c.(439-441)gGa>gAa	p.G147E	NETO1_ENST00000397929.1_Missense_Mutation_p.G146E|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.G146E|NETO1_ENST00000583169.1_Missense_Mutation_p.G147E	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	147	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGCTGAAAATCCCATAGATTC	0.328000													20	43					0	0	0.012319	0	0
BAGE2	85319	broad.mit.edu	37	21	11039343	11039343	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr21:11039343C>T	ENST00000470054.1	-	0	860									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTGATCTTCGCCACAAATA	0.383000													21	225					0	0	0.003330	0	0
GRK6	2870	broad.mit.edu	37	5	176859722	176859722	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:176859722C>T	ENST00000355472.5	+	5	523	c.355C>T	c.(355-357)Cct>Tct	p.P119S	GRK6_ENST00000528793.1_Missense_Mutation_p.P119S|GRK6_ENST00000393576.3_Missense_Mutation_p.P119S|GRK6_ENST00000507633.1_Missense_Mutation_p.P119S|GRK6_ENST00000355958.5_Missense_Mutation_p.P119S	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	119	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCTCATCCCTGAGGTCCC	0.647000													3	9					0	0	0.009096	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				17	35					0	0	0.007413	0	0
SEPT12	124404	broad.mit.edu	37	16	4829767	4829767	+	Silent	SNP	C	C	T	rs150037821		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:4829767C>T	ENST00000268231.8	-	8	1010	c.747G>A	c.(745-747)gtG>gtA	p.V249V	SEPT12_ENST00000396693.5_Silent_p.V203V	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	249					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CAGCCCCTACCACGGCAAAAG	0.592000													34	48					0	0	0.013726	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149378159	149378159	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:149378159C>T	ENST00000415338.1	-	0	1061																											GGGTGGCCATCGATCTGGACC	0.562000													9	18					0	0	0.008291	0	0
DPYD	1806	broad.mit.edu	37	1	98187201	98187201	+	Silent	SNP	T	T	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:98187201T>G	ENST00000370192.3	-	5	448	c.348A>C	c.(346-348)atA>atC	p.I116I	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_Silent_p.I79I|DPYD_ENST00000306031.5_Silent_p.I116I	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	116					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGTCAGAAAATATCATCTTAG	0.343000													36	35					0	0	0.004878	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181759	140181759	+	Missense_Mutation	SNP	G	G	A	rs148196865		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:140181759G>A	ENST00000522353.2	+	1	977	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G326E|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1												p.G326E(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATAAAGGAAATCCCCCA	0.378000													19	39					0	0	0.010504	0	0
FGFR2	2263	broad.mit.edu	37	10	123298174	123298174	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr10:123298174C>T	ENST00000358487.5	-	6	952	c.680G>A	c.(679-681)gGa>gAa	p.G227E	FGFR2_ENST00000369061.4_Missense_Mutation_p.G227E|FGFR2_ENST00000351936.6_Missense_Mutation_p.G227E|FGFR2_ENST00000369060.4_Missense_Mutation_p.G227E|FGFR2_ENST00000357555.5_Missense_Mutation_p.G138E|FGFR2_ENST00000356226.4_Missense_Mutation_p.G112E|FGFR2_ENST00000457416.2_Missense_Mutation_p.G227E|FGFR2_ENST00000360144.3_Missense_Mutation_p.G138E|FGFR2_ENST00000369056.1_Missense_Mutation_p.G227E|FGFR2_ENST00000346997.2_Missense_Mutation_p.G227E|FGFR2_ENST00000369059.1_Missense_Mutation_p.G112E|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.G227E	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	227	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.G227E(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGTATAATTTCCCTTGTCAGA	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				33	14					0	0	0.010818	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375576	93375576	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:93375576G>A	ENST00000375765.3	-	2	922	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	178					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.I178I(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTCCCGTCGATCTGGAGAC	0.547000													40	37					0	0	0.006230	0	0
TPTE	7179	broad.mit.edu	37	21	10971337	10971337	+	Missense_Mutation	SNP	G	G	A	rs149877959	byFrequency	TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr21:10971337G>A	ENST00000298232.7	-	5	387	c.20C>T	c.(19-21)cCg>cTg	p.P7L	TPTE_ENST00000361285.4_Missense_Mutation_p.P7L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.P7L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	7					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGGTCAGTCGGATCAGGACT	0.448000													17	43					0	0	0.008871	0	0
TRPS1	7227	broad.mit.edu	37	8	116632016	116632016	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:116632016G>A	ENST00000395715.3	-	3	886	c.309C>T	c.(307-309)agC>agT	p.S103S	TRPS1_ENST00000220888.5_Silent_p.S90S|TRPS1_ENST00000520276.1_Silent_p.S94S|TRPS1_ENST00000519674.1_Silent_p.S90S|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	90					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTACTGGGGCTTTCATAAT	0.478000									Langer-Giedion syndrome				91	24					0	0	0.014410	0	0
SH3TC2	79628	broad.mit.edu	37	5	148421065	148421065	+	Silent	SNP	G	G	A	rs80227512	byFrequency	TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:148421065G>A	ENST00000515425.1	-	6	746	c.645C>T	c.(643-645)tcC>tcT	p.S215S	SH3TC2_ENST00000512049.1_Silent_p.S208S|SH3TC2_ENST00000394358.2_Silent_p.S100S|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	215							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCAACTCGGAGCCAGCTT	0.562000													21	27					0	0	0.010504	0	0
RFXANK	8625	broad.mit.edu	37	19	19304881	19304881	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:19304881C>T	ENST00000303088.4	+	3	600	c.126C>T	c.(124-126)ctC>ctT	p.L42L	RFXANK_ENST00000456252.3_Silent_p.L42L|RFXANK_ENST00000353145.1_Silent_p.L42L|RFXANK_ENST00000407360.3_Silent_p.L42L|RFXANK_ENST00000392324.4_Silent_p.L42L	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	42						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TCCTCAGTCTCTTTCCCTGCA	0.587000													38	61					0	0	0.006230	0	0
CARD10	29775	broad.mit.edu	37	22	37891785	37891785	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:37891785G>A	ENST00000403299.1	-	15	2501	c.2285C>T	c.(2284-2286)aCc>aTc	p.T762I	CARD10_ENST00000251973.5_Missense_Mutation_p.T762I|CARD10_ENST00000406271.3_Missense_Mutation_p.T476I			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	762					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ATTGGGCACGGTGCCCCGGTC	0.642000													17	21					0	0	0.004990	0	0
MYOCD	93649	broad.mit.edu	37	17	12639597	12639597	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:12639597C>T	ENST00000425538.1	+	6	735	c.535C>T	c.(535-537)Ccg>Tcg	p.P179S	MYOCD_ENST00000395988.1_Missense_Mutation_p.P83S|MYOCD_ENST00000343344.4_Missense_Mutation_p.P179S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	179	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P179T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCGGGATCCCCGCCAGACGC	0.493000													24	65					0	0	0.003954	0	0
PC	5091	broad.mit.edu	37	11	66638920	66638920	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:66638920T>C	ENST00000393960.1	-	6	634	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	PC_ENST00000393955.2_Missense_Mutation_p.Y118C|PC_ENST00000355677.3_Missense_Mutation_p.Y118C|PC_ENST00000393958.2_Missense_Mutation_p.Y118C|PC_ENST00000524491.1_Missense_Mutation_p.Y78C	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	118	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GAGGAACCCGTAGCCAGGGTG	0.632000													62	48					0	0	0.014410	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571801	47571801	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:47571801G>A	ENST00000334194.3	+	9	1072	c.1067_splice	c.e9-1	p.E357_splice	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	357						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCTACCCAGGGAACACCTGAG	0.483000													29	63					0	0	0.003271	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249817	140249817	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:140249817G>C	ENST00000398640.2	+	1	1129	c.1129G>C	c.(1129-1131)Gac>Cac	p.D377H	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGACCGTGACTCAGGTGT	0.577000													28	50					0	0	0.004656	0	0
TMC3	342125	broad.mit.edu	37	15	81650588	81650588	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:81650588C>T	ENST00000558726.1	-	7	780	c.645G>A	c.(643-645)agG>agA	p.R215R	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.R215R			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	215						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCTTCCTCTCCCTGCCGTAAT	0.498000													28	59					0	0	0.007291	0	0
TRPV5	56302	broad.mit.edu	37	7	142612720	142612720	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:142612720C>T	ENST00000265310.1	-	9	1489	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	381					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATGATATCTTCACGTGTCTCA	0.527000													6	20					0	0	0.001984	0	0
HDC	3067	broad.mit.edu	37	15	50544901	50544901	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:50544901G>A	ENST00000267845.3	-	8	1260	c.858C>T	c.(856-858)ttC>ttT	p.F286F	HDC_ENST00000543581.1_Silent_p.F286F	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	286					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GAAACCCCCGGAACTCGGGGC	0.562000													15	29					0	0	0.004007	0	0
LMOD3	56203	broad.mit.edu	37	3	69168818	69168818	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:69168818C>T	ENST00000420581.2	-	2	867	c.688G>A	c.(688-690)Gta>Ata	p.V230I	LMOD3_ENST00000489031.1_Missense_Mutation_p.V230I|LMOD3_ENST00000475434.1_Missense_Mutation_p.V230I	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	230						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTTGTACTTACCTTCAAAAAG	0.423000													55	61					0	0	0.014410	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260627	42260627	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:42260627C>T	ENST00000199764.6	+	2	402	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	62	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCCCCAGAATCGTATTGGTTA	0.512000													58	93					0	0	0.014410	0	0
PROKR1	10887	broad.mit.edu	37	2	68882249	68882249	+	Silent	SNP	C	C	T	rs146411193		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:68882249C>T	ENST00000303786.3	+	3	1143	c.723C>T	c.(721-723)ttC>ttT	p.F241F	PROKR1_ENST00000394342.2_Silent_p.F241F			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	241						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCATAGAATTCGTGGGCCCCG	0.547000													44	58					0	0	0.010771	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347138	89347138	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:89347138G>T	ENST00000301030.4	-	9	6272	c.5812C>A	c.(5812-5814)Ccc>Acc	p.P1938T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1938T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1938	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGCTGAAGGGACCCTCGTCC	0.697000													19	41					8.10497e-08	1.37259e-07	0.010504	1	0
ZNF99	7652	broad.mit.edu	37	19	22939486	22939486	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:22939486T>G	ENST00000397104.3	-	7	2684	c.2685A>C	c.(2683-2685)aaA>aaC	p.K895N						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTAAAACCTTTGCCACATT	0.363000													16	31					0	0	0.004007	0	0
ZNF526	116115	broad.mit.edu	37	19	42729578	42729578	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:42729578C>T	ENST00000301215.3	+	3	1248	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCAAGGTCTTCAAGAAAGCAG	0.607000													22	21					0	0	0.014323	0	0
MYOCD	93649	broad.mit.edu	37	17	12649390	12649390	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:12649390G>A	ENST00000425538.1	+	9	1325		c.e9+1		MYOCD_ENST00000395988.1_Splice_Site|MYOCD_ENST00000343344.4_Splice_Site	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGATCTGAAGGTATAGGATTT	0.408000													22	47					0	0	0.014323	0	0
SLC9A6	10479	broad.mit.edu	37	X	135092682	135092682	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:135092682C>T	ENST00000370695.4	+	7	1016	c.981C>T	c.(979-981)ttC>ttT	p.F327F	SLC9A6_ENST00000370698.3_Silent_p.F295F|SLC9A6_ENST00000370701.1_Silent_p.F275F	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	295					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGGGATCTTCCTTGGAATCT	0.413000													40	19					0	0	0.006999	0	0
HYDIN	54768	broad.mit.edu	37	16	70889118	70889118	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:70889118G>A	ENST00000393567.2	-	73	12506	c.12356C>T	c.(12355-12357)tCc>tTc	p.S4119F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4119								p.S4070F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTCCTGGAAGGAAAAATCGAA	0.527000													30	14					0	0	0.004878	0	0
YEATS2	55689	broad.mit.edu	37	3	183469919	183469919	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:183469919C>T	ENST00000305135.5	+	10	1223	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	343					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATCCTCAGTCCTCGGAGTCT	0.483000													34	65					0	0	0.004289	0	0
HHLA2	11148	broad.mit.edu	37	3	108072514	108072514	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:108072514G>A	ENST00000357759.5	+	4	719	c.305G>A	c.(304-306)gGg>gAg	p.G102E	HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000491820.1_Missense_Mutation_p.G102E|HHLA2_ENST00000467761.1_Missense_Mutation_p.G102E|HHLA2_ENST00000489514.2_Missense_Mutation_p.G102E	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATTCAAAATGGGAATGCGTCG	0.398000													15	31					0	0	0.002450	0	0
CCBL1	883	broad.mit.edu	37	9	131600339	131600339	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:131600339G>A	ENST00000436267.2	-	7	860	c.711C>T	c.(709-711)tcC>tcT	p.S237S	CCBL1_ENST00000302586.3_Silent_p.S143S|CCBL1_ENST00000320665.6_Silent_p.S93S|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	143					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CCGGCTTCAGGGACACAAACA	0.522000													98	118					0	0	0.014410	0	0
CNGB3	54714	broad.mit.edu	37	8	87755845	87755845	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:87755845G>A	ENST00000320005.5	-	1	58	c.11C>T	c.(10-12)tCg>tTg	p.S4L	RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	4					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTTGTCAGCGATTTAAACAT	0.393000													59	24					0	0	0.014410	0	0
LUZP2	338645	broad.mit.edu	37	11	25100138	25100138	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:25100138A>T	ENST00000533227.1	+	12	1004	c.717A>T	c.(715-717)aaA>aaT	p.K239N	LUZP2_ENST00000336930.6_Missense_Mutation_p.K325N	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	325						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTGAGGTGAAAAAAGCCCCAG	0.343000													44	39					0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	71103256	71103256	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:71103256C>T	ENST00000393567.2	-	14	2038	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	HYDIN_ENST00000541601.1_Missense_Mutation_p.E647K|HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000538248.1_Missense_Mutation_p.E657K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E630K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E630K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E645K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E630K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E647K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	630										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATATTTCTTCCTTGGTCCAA	0.468000													28	74					0	0	0.013726	0	0
CARD10	29775	broad.mit.edu	37	22	37891784	37891784	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:37891784G>A	ENST00000403299.1	-	15	2502	c.2286C>T	c.(2284-2286)acC>acT	p.T762T	CARD10_ENST00000251973.5_Silent_p.T762T|CARD10_ENST00000406271.3_Silent_p.T476T			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	762					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AATTGGGCACGGTGCCCCGGT	0.642000													17	21					0	0	0.004990	0	0
CHIT1	1118	broad.mit.edu	37	1	203188413	203188413	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:203188413C>T	ENST00000367229.1	-	9	994	c.960G>A	c.(958-960)caG>caA	p.Q320Q	CHIT1_ENST00000535569.1_Silent_p.Q311Q|CHIT1_ENST00000255427.3_Silent_p.Q301Q|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	320					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGGGCACCTTCTGATCCTGGA	0.597000													50	76					0	0	0.014410	0	0
BCR	613	broad.mit.edu	37	22	23610670	23610670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:23610670C>T	ENST00000305877.8	+	5	2579	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*	BCR_ENST00000359540.3_Nonsense_Mutation_p.Q610*	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	610	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GAAGTGCTGTCAGGCCAATGC	0.582000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								12	17					0	0	0.002450	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657603	100657603	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:100657603C>T	ENST00000416321.1	-	2	228	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	76	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CTTTTTATTTCCACTTGGGCC	0.383000													15	34					0	0	0.002450	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497934	20497934	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:20497934G>A	ENST00000573854.1	+	14	1782	c.1668G>A	c.(1666-1668)ggG>ggA	p.G556G	ACSM2A_ENST00000219054.6_Silent_p.G556G|ACSM2A_ENST00000575690.1_Silent_p.G556G|ACSM2A_ENST00000396104.2_Silent_p.G556G|ACSM2A_ENST00000417235.2_Silent_p.G477G|ACSM2A_ENST00000536134.1_Silent_p.G328G	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	556					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGTCACAGGGAAAATTCAAC	0.473000													53	115					0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	2815219	2815219	+	Splice_Site	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:2815219T>C	ENST00000520002.1	-	64	10371	c.9817_splice	c.e64+1	p.I3272_splice	CSMD1_ENST00000400186.3_Splice_Site_p.I3095_splice|CSMD1_ENST00000602723.1_Splice_Site_p.I3095_splice|CSMD1_ENST00000537824.1_Splice_Site_p.I3271_splice|CSMD1_ENST00000542608.1_Splice_Site_p.I3094_splice|CSMD1_ENST00000602557.1_Splice_Site_p.I3272_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3272	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACTTACGTATACATTCGG	0.413000													6	4					0	0	0.001984	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671143	131671143	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:131671143T>C	ENST00000259324.5	+	3	2223	c.1700T>C	c.(1699-1701)gTg>gCg	p.V567A	LRRC8A_ENST00000372599.3_Missense_Mutation_p.V567A|LRRC8A_ENST00000372600.4_Missense_Mutation_p.V567A	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	567					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GATGTGGGCGTGCACCTGCAG	0.577000													3	47					0	0	0.004672	0	0
CDH7	1005	broad.mit.edu	37	18	63477219	63477219	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr18:63477219G>A	ENST00000536984.2	+	3	1184	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CDH7_ENST00000397968.2_Missense_Mutation_p.E164K|CDH7_ENST00000323011.3_Missense_Mutation_p.E164K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	164	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E164K(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGGAGTTCCCGAAATGTCTCC	0.428000													41	74					0	0	0.014410	0	0
RDH16	8608	broad.mit.edu	37	12	57351142	57351142	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:57351142C>T	ENST00000398138.3	-	1	961	c.105G>A	c.(103-105)acG>acA	p.T35T	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	35					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGTCACAGCCCGTGATGAACA	0.597000													29	58					0	0	0.005443	0	0
BAI3	577	broad.mit.edu	37	6	70070960	70070960	+	Silent	SNP	T	T	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:70070960T>G	ENST00000370598.1	+	29	4616	c.3795T>G	c.(3793-3795)ctT>ctG	p.L1265L	BAI3_ENST00000546190.1_Silent_p.L229L|BAI3_ENST00000238918.8_Silent_p.L471L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1265					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGAATGAGCTTAGCAATCCAT	0.418000													23	34					0	0	0.012319	0	0
KCNH7	90134	broad.mit.edu	37	2	163360984	163360984	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:163360984C>T	ENST00000332142.5	-	6	1196	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R359Q|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	366					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTGTGTGTTCGATCTTTAAC	0.373000													48	85					0	0	0.014410	0	0
MUC3A	4584	broad.mit.edu	37	7	100607746	100607746	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:100607746G>A	ENST00000319509.7	+	5	1893	c.1892_splice	c.e5-1	p.R631_splice	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GACCCCTCAGGAATGGCAGCA	0.597000													19	99					0	0	0.003330	0	0
PTPRB	5787	broad.mit.edu	37	12	70989867	70989867	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:70989867C>T	ENST00000334414.6	-	5	1264	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	PTPRB_ENST00000538708.1_Missense_Mutation_p.G189E|PTPRB_ENST00000550358.1_Missense_Mutation_p.G407E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G406E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.G189E|PTPRB_ENST00000261266.5_Missense_Mutation_p.G189E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G189E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	189	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAACGTTTTCCTCCAGAAAC	0.328000													4	18					0	0	0.009096	0	0
APOL3	80833	broad.mit.edu	37	22	36537577	36537577	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:36537577C>T	ENST00000424878.2	-	4	2428	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	APOL3_ENST00000349314.2_Missense_Mutation_p.E294K|APOL3_ENST00000397287.2_Missense_Mutation_p.E94K|APOL3_ENST00000361710.2_Missense_Mutation_p.E94K|APOL3_ENST00000397293.2_Missense_Mutation_p.E223K			O95236	APOL3_HUMAN	apolipoprotein L, 3	294					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GCACGGATTTCACTCCCAATG	0.493000													22	49					0	0	0.014323	0	0
THRB	7068	broad.mit.edu	37	3	24164556	24164556	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:24164556G>A	ENST00000396671.2	-	11	1553	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	THRB_ENST00000280696.5_Missense_Mutation_p.A417V|THRB_ENST00000416420.1_Missense_Mutation_p.A402V|THRB_ENST00000356447.4_Missense_Mutation_p.A402V	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	402	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTGTTCAAAGGCCAGCAGGAA	0.478000													46	88					0	0	0.011902	0	0
IPO5	3843	broad.mit.edu	37	13	98662177	98662177	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr13:98662177C>T	ENST00000261574.5	+	19	2077	c.1897C>T	c.(1897-1899)Ctt>Ttt	p.L633F	IPO5_ENST00000539640.1_Missense_Mutation_p.L490F|IPO5_ENST00000490680.1_Missense_Mutation_p.L615F	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	615					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTGCAAAATCCTTGGAAAAGA	0.373000													3	22					0	0	0.004672	0	0
MYH9	4627	broad.mit.edu	37	22	36685152	36685152	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:36685152G>A	ENST00000216181.5	-	32	4766	c.4536C>T	c.(4534-4536)tcC>tcT	p.S1512S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1512					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATCATCCTTGGAGCTCATAA	0.627000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	21					0	0	0.008291	0	0
RYR3	6263	broad.mit.edu	37	15	33835867	33835867	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:33835867G>A	ENST00000389232.4	+	8	761	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RYR3_ENST00000415757.3_Missense_Mutation_p.D231N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	231	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGGTCATGATGAATGTTT	0.413000													47	100					0	0	0.014410	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253705	134253705	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:134253705G>A	ENST00000524765.1	-	3	5034	c.490C>T	c.(490-492)Ccg>Tcg	p.P164S	B3GAT1_ENST00000312527.4_Missense_Mutation_p.P164S|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P164S|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P177S			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	164					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTGCCCCGCGGGATGCGTGGG	0.711000													4	6					0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82585613	82585613	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:82585613C>T	ENST00000423517.2	-	5	4993	c.4656G>A	c.(4654-4656)gaG>gaA	p.E1552E	PCLO_ENST00000333891.8_Silent_p.E1552E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1483					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAAGTCCTCCTCTTCCCCTG	0.413000													35	53					0	0	0.003755	0	0
ENPP4	22875	broad.mit.edu	37	6	46107915	46107915	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:46107915G>A	ENST00000321037.4	+	2	825	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	199						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CGGACCTGAAGATAAAGAAAA	0.383000													36	31					0	0	0.004289	0	0
PROL1	58503	broad.mit.edu	37	4	71275337	71275337	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:71275337C>T	ENST00000399575.2	+	3	466	c.292C>T	c.(292-294)Ctc>Ttc	p.L98F	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	98	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACAACCTCGACTCTTTCCGGG	0.413000													57	102					0	0	0.014410	0	0
XRCC6	2547	broad.mit.edu	37	22	42033664	42033664	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:42033664C>T	ENST00000359308.4	+	5	1297	c.642C>T	c.(640-642)tcC>tcT	p.S214S	XRCC6_ENST00000428575.2_Silent_p.S81S|XRCC6_ENST00000402580.3_Silent_p.S173S|XRCC6_ENST00000360079.3_Silent_p.S214S|XRCC6_ENST00000405506.1_Silent_p.S164S|XRCC6_ENST00000405878.1_Silent_p.S214S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	214					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TTGACATATCCTTGTTCTACA	0.468000								Non-homologous end-joining					6	20					0	0	0.001168	0	0
PTGFR	5737	broad.mit.edu	37	1	79002162	79002162	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:79002162C>T	ENST00000370757.3	+	3	1107	c.870C>T	c.(868-870)ctC>ctT	p.L290L	PTGFR_ENST00000370758.1_Silent_p.L290L|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	290					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TTTTTGCTCTCCGAATGGCAA	0.383000													30	61					0	0	0.008361	0	0
OR2C3	81472	broad.mit.edu	37	1	247695273	247695273	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:247695273C>T	ENST00000366487.3	-	2	902	c.541G>A	c.(541-543)Gag>Aag	p.E181K	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGGGCATCTCGCAAAAGAAG	0.567000													11	15					0	0	0.010729	0	0
PARP9	83666	broad.mit.edu	37	3	122274779	122274779	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:122274779G>A	ENST00000462315.1	-	4	532	c.239C>T	c.(238-240)aCt>aTt	p.T80I	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.T80I|PARP9_ENST00000360356.2_Missense_Mutation_p.T115I|PARP9_ENST00000477522.2_Missense_Mutation_p.T80I	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	115					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TATCCTAGGAGTCAGCATTTT	0.473000													15	25					0	0	0.002450	0	0
HARBI1	283254	broad.mit.edu	37	11	46637536	46637536	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:46637536G>A	ENST00000326737.3	-	2	499	c.252C>T	c.(250-252)tcC>tcT	p.S84S		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	84						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GAGTCTGGAAGGAACCTGAGG	0.517000													19	93					0	0	0.007413	0	0
IQCE	23288	broad.mit.edu	37	7	2645531	2645531	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:2645531C>T	ENST00000402050.2	+	20	1949	c.1765C>T	c.(1765-1767)Ccg>Tcg	p.P589S	IQCE_ENST00000438376.2_Missense_Mutation_p.P573S|IQCE_ENST00000404984.1_Missense_Mutation_p.P538S|IQCE_ENST00000325979.7_Missense_Mutation_p.P524S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	589										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCCCCGCGTTCCGAGCCCCAT	0.697000													10	16					0	0	0.013537	0	0
CHP2	63928	broad.mit.edu	37	16	23767468	23767468	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:23767468C>T	ENST00000300113.2	+	4	729	c.306C>T	c.(304-306)gaC>gaT	p.D102D		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	102	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		AAACCCAAGACCCCAAGAAAC	0.522000													18	20					0	0	0.008871	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79734515	79734515	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:79734515C>T	ENST00000338008.5	+	3	2191	c.2011C>T	c.(2011-2013)Cca>Tca	p.P671S	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P671S|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P671S	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	671					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GCCAGATGTTCCAGATACAAT	0.423000													17	33					0	0	0.004990	0	0
TRAV20	28663	broad.mit.edu	37	14	22509271	22509271	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:22509271C>T	ENST00000390448.3	+	0	278																											TTCCTCTTCACCCTGTATTCA	0.468000													13	20					0	0	0.013537	0	0
DST	667	broad.mit.edu	37	6	56500494	56500494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:56500494C>T	ENST00000370754.5	-	23	2979	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	DST_ENST00000421834.2_Missense_Mutation_p.E816K|DST_ENST00000370769.4_Missense_Mutation_p.E816K|DST_ENST00000446842.2_Missense_Mutation_p.E490K|DST_ENST00000518935.1_Missense_Mutation_p.E490K|DST_ENST00000361203.3_Missense_Mutation_p.E816K|DST_ENST00000370765.6_Missense_Mutation_p.E490K|DST_ENST00000312431.6_Missense_Mutation_p.E816K|DST_ENST00000244364.6_Missense_Mutation_p.E490K|DST_ENST00000370788.2_Missense_Mutation_p.E816K			Q03001	DYST_HUMAN	dystonin	816					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAGTAGCTTCTTTGGCATCA	0.398000													21	20					0	0	0.014323	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447565	110447565	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:110447565G>A	ENST00000378402.5	+	29	3591	c.3487G>A	c.(3487-3489)Gat>Aat	p.D1163N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1163	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATCTGGCCTGATTCTGGAAG	0.433000										HNSCC(38;0.096)			222	56					0	0	0.014410	0	0
DNAH2	146754	broad.mit.edu	37	17	7671322	7671322	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:7671322G>A	ENST00000572933.1	+	23	5240	c.3780G>A	c.(3778-3780)atG>atA	p.M1260I	DNAH2_ENST00000389173.2_Missense_Mutation_p.M1260I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1260	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGAAACCATGGAGACCACGG	0.577000													22	26					0	0	0.012319	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166648	19166648	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:19166648G>A	ENST00000375371.3	-	6	1986	c.1965C>T	c.(1963-1965)atC>atT	p.I655I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	655					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGCGCAGACGATCTGGAAAG	0.607000													54	101					0	0	0.014410	0	0
COL2A1	1280	broad.mit.edu	37	12	48368481	48368481	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:48368481C>T	ENST00000380518.3	-	52	4215	c.4051G>A	c.(4051-4053)Gaa>Aaa	p.E1351K	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E1282K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1351	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTGATGGTTTCTCCAAACCAG	0.498000													41	106					0	0	0.013114	0	0
PCLO	27445	broad.mit.edu	37	7	82764658	82764658	+	Silent	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:82764658T>C	ENST00000423517.2	-	3	2545	c.2208A>G	c.(2206-2208)aaA>aaG	p.K736K	PCLO_ENST00000333891.8_Silent_p.K736K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	682	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAAGGTTCTTTGGGAGGGG	0.527000													19	45					0	0	0.006122	0	0
C14orf39	317761	broad.mit.edu	37	14	60903603	60903603	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:60903603G>A	ENST00000321731.3	-	18	1883	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	575										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TGAGGAAGATGAAAAACCTTT	0.303000													49	112					0	0	0.014410	0	0
PRSS37	136242	broad.mit.edu	37	7	141536273	141536273	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:141536273G>A	ENST00000350549.3	-	5	1001	c.630C>T	c.(628-630)ttC>ttT	p.F210F	PRSS37_ENST00000438520.1_Silent_p.F210F	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	210	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CCCCTCCCATGAAGTGCCCCA	0.512000													20	43					0	0	0.010504	0	0
SCN4A	6329	broad.mit.edu	37	17	62022955	62022955	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:62022955T>C	ENST00000578147.1	-	19	3561	c.3485A>G	c.(3484-3486)aAt>aGt	p.N1162S	SCN4A_ENST00000435607.1_Missense_Mutation_p.N1162S			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1162					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGCAGCACATTCATGATGGA	0.582000													83	182					0	0	0.014410	0	0
UNC13A	23025	broad.mit.edu	37	19	17743613	17743613	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:17743613C>T	ENST00000428389.2	-	29	3669	c.3670G>A	c.(3670-3672)Gac>Aac	p.D1224N	UNC13A_ENST00000519716.2_Missense_Mutation_p.D1136N|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1136N|UNC13A_ENST00000252773.7_Missense_Mutation_p.D1136N|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1136N|UNC13A_ENST00000550896.1_Missense_Mutation_p.D1134N			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1136	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCACGCGGTCCTTGAAGGCG	0.542000													27	54					0	0	0.007291	0	0
RASSF2	9770	broad.mit.edu	37	20	4768870	4768870	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:4768870C>T	ENST00000379400.3	-	9	879	c.684G>A	c.(682-684)acG>acA	p.T228T	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.T228T	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	228	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TACCACCACTCGTATGGACCA	0.378000													25	94					0	0	0.012213	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47611094	47611094	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:47611094G>C	ENST00000371917.4	+	22	3080	c.3080G>C	c.(3079-3081)gGc>gCc	p.G1027A		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1027					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGCCTGAAGGGCCACACATTG	0.562000													9	56					0	0	0.004482	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729233	18729233	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:18729233C>T	ENST00000600490.1	+	8	1016	c.831C>T	c.(829-831)tcC>tcT	p.S277S	TMEM59L_ENST00000262817.3_Silent_p.S277S			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	277						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						TCTTCCTCTCCGTGCTGGTGA	0.697000													6	15					0	0	0.001168	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450652	105450652	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:105450652G>A	ENST00000337685.2	+	5	2012	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V	MUM1L1_ENST00000372552.1_Silent_p.V409V|MUM1L1_ENST00000357175.2_Silent_p.V409V	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	409	PWWP.									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						GGCCAGCAGTGATAAAAAGTA	0.348000													9	5					0	0	0.006214	0	0
SWI5	375757	broad.mit.edu	37	9	131038524	131038524	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:131038524C>T	ENST00000320188.4	+	1	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	34					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCCGGCTTTCCTTGGGTGCG	0.682000													11	18					0	0	0.008291	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366635	40366635	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:40366635G>A	ENST00000406785.1	-	7	2532	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	SLC8A1_ENST00000405269.1_Silent_p.F781F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.F781F|SLC8A1_ENST00000403092.1_Silent_p.F817F|SLC8A1_ENST00000406391.2_Silent_p.F781F|SLC8A1_ENST00000402441.1_Silent_p.F781F|SLC8A1_ENST00000332839.4_Silent_p.F817F|SLC8A1_ENST00000405901.3_Silent_p.F812F|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F812F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F809F|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	817					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTCTCCAATGAAAGCTGTCA	0.517000													12	49					0	0	0.001855	0	0
HARBI1	283254	broad.mit.edu	37	11	46637537	46637537	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:46637537G>A	ENST00000326737.3	-	2	498	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	84						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						AGTCTGGAAGGAACCTGAGGT	0.522000													19	92					0	0	0.007413	0	0
AXL	558	broad.mit.edu	37	19	41748886	41748886	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:41748886C>T	ENST00000301178.4	+	11	1601	c.1411C>T	c.(1411-1413)Ctt>Ttt	p.L471F	AXL_ENST00000593513.1_Missense_Mutation_p.L203F|AXL_ENST00000359092.3_Missense_Mutation_p.L462F	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	471						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGCTCTCTTCCTTGTCCACCG	0.597000													20	40					0	0	0.007413	0	0
ASTN1	460	broad.mit.edu	37	1	176838039	176838039	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:176838039G>A	ENST00000367654.2	-	22	3625	c.3612C>T	c.(3610-3612)aaC>aaT	p.N1204N	ASTN1_ENST00000424564.2_Silent_p.N1196N|ASTN1_ENST00000361833.2_Silent_p.N1196N|ASTN1_ENST00000367657.3_Silent_p.N1196N			O14525	ASTN1_HUMAN	astrotactin 1	1204					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATAGTGCTGGTTATAGTGGT	0.488000													35	61					0	0	0.010771	0	0
PDE10A	10846	broad.mit.edu	37	6	165809885	165809885	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:165809885G>A	ENST00000366882.1	-	15	1466	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	PDE10A_ENST00000354448.4_Missense_Mutation_p.H438Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.H448Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	438					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CAAATGCTATGGTAGGACAGC	0.418000													64	78					0	0	0.014410	0	0
RASIP1	54922	broad.mit.edu	37	19	49227675	49227675	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:49227675C>T	ENST00000222145.4	-	10	2667	c.2463G>A	c.(2461-2463)ctG>ctA	p.L821L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	821	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CAATGTCGCCCAGCCCAGCTC	0.577000													25	47					0	0	0.003330	0	0
FZD9	8326	broad.mit.edu	37	7	72849830	72849830	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:72849830C>T	ENST00000344575.3	+	1	1722	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	498					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGGACTGCTCGCTGCCAGGG	0.657000													15	13					0	0	0.002450	0	0
GBP2	2634	broad.mit.edu	37	1	89582786	89582786	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:89582786C>T	ENST00000370466.3	-	6	1025	c.757G>A	c.(757-759)Gag>Aag	p.E253K	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	253					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		AGCTCTTCCTCCTTTAGCTGC	0.478000													19	41					0	0	0.008871	0	0
SCN10A	6336	broad.mit.edu	37	3	38766694	38766694	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:38766694C>T	ENST00000449082.2	-	17	3198	c.3199G>A	c.(3199-3201)Gat>Aat	p.D1067N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1067					sensory perception	voltage-gated sodium channel complex		p.D1067H(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACAGACTCATCTTTCCACGTC	0.597000													12	22					0	0	0.003163	0	0
TRPM2	7226	broad.mit.edu	37	21	45844767	45844767	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr21:45844767C>T	ENST00000397928.1	+	24	4027	c.3582C>T	c.(3580-3582)atC>atT	p.I1194I	TRPM2_ENST00000300481.9_Silent_p.I1174I|TRPM2_ENST00000397932.2_Silent_p.I1244I|TRPM2_ENST00000300482.5_Silent_p.I1194I|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1194						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCACTGGATCGTGAGGACGC	0.677000													16	6					0	0	0.002780	0	0
CCNB3	85417	broad.mit.edu	37	X	50051948	50051948	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:50051948C>T	ENST00000376042.1	+	6	1077	c.779C>T	c.(778-780)tCc>tTc	p.S260F	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S260F|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	260					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAAGAGGATTCCTTCTTTATG	0.403000													36	19					0	0	0.003755	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447873	10447873	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:10447873G>A	ENST00000326756.3	-	3	518	c.80C>T	c.(79-81)cCt>cTt	p.P27L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATTAGCATCAGGCTGTTTGGG	0.453000													72	129					0	0	0.014410	0	0
FAM151A	338094	broad.mit.edu	37	1	55078336	55078336	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:55078336G>A	ENST00000302250.2	-	5	783	c.623C>T	c.(622-624)cCa>cTa	p.P208L	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.P208L	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	208						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGTCCAGCCTGGAGATAGGGT	0.582000													33	55					0	0	0.004878	0	0
TMEM131	23505	broad.mit.edu	37	2	98377313	98377313	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:98377313C>T	ENST00000186436.5	-	37	5182	c.4954G>A	c.(4954-4956)Ggc>Agc	p.G1652S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1652						integral to membrane		p.G1652C(1)|p.G1539C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCGTTCTTGCCCGGGAGCGAG	0.527000													44	45					0	0	0.013114	0	0
LIFR	3977	broad.mit.edu	37	5	38484964	38484964	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:38484964C>T	ENST00000263409.4	-	18	2666	c.2504G>A	c.(2503-2505)gGa>gAa	p.G835E	LIFR_ENST00000453190.2_Missense_Mutation_p.G835E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	835					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.G835V(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATAATTAATCCCACAGCTGA	0.378000			T	PLAG1	salivary adenoma								8	23					0	0	0.004482	0	0
RAI1	10743	broad.mit.edu	37	17	17700192	17700192	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:17700192C>T	ENST00000353383.1	+	3	4399	c.3930C>T	c.(3928-3930)ttC>ttT	p.F1310F	RAI1_ENST00000261641.6_Silent_p.F1310F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1310						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGGCAGCCTTCCAGGGGGCCA	0.652000													62	61					0	0	0.014410	0	0
DOK3	79930	broad.mit.edu	37	5	176931356	176931356	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:176931356G>A	ENST00000501403.2	-	6	1300	c.951C>T	c.(949-951)ccC>ccT	p.P317P	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Silent_p.P373P			Q7L591	DOK3_HUMAN	docking protein 3	373	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGATCGTTGGGCTCCGGGC	0.647000													8	18					0	0	0.008291	0	0
SPAG17	200162	broad.mit.edu	37	1	118558710	118558710	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:118558710G>A	ENST00000336338.5	-	29	4230	c.4165C>T	c.(4165-4167)Cac>Tac	p.H1389Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1389						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTGCCTATGTGAACCTCCACA	0.468000													41	51					0	0	0.005524	0	0
SGIP1	84251	broad.mit.edu	37	1	67148038	67148038	+	Missense_Mutation	SNP	C	C	T	rs139418191		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:67148038C>T	ENST00000371037.4	+	15	1378	c.1301C>T	c.(1300-1302)cCg>cTg	p.P434L	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P438L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	434	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGCCCTGGTCCGGGGACCACC	0.597000													71	137					0	0	0.014410	0	0
CD53	963	broad.mit.edu	37	1	111441773	111441773	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:111441773C>T	ENST00000271324.5	+	8	728	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	CD53_ENST00000497404.1_3'UTR|CD53_ENST00000429072.2_Silent_p.L147L	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	206					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TGCACTGACCCTGAACTGCCA	0.453000													25	25					0	0	0.006320	0	0
OAS3	4940	broad.mit.edu	37	12	113386766	113386766	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:113386766C>T	ENST00000228928.7	+	6	1309	c.1130C>T	c.(1129-1131)cCa>cTa	p.P377L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	377	Linker.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCTGTGTACCCAAGAGCAGGG	0.612000													8	12					0	0	0.003080	0	0
TTC16	158248	broad.mit.edu	37	9	130489606	130489606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:130489606G>A	ENST00000373289.3	+	12	1706	c.1626G>A	c.(1624-1626)tgG>tgA	p.W542*	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	542							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCACTCATGGAAGCAGGGGG	0.612000													9	24					0	0	0.008291	0	0
SLC9A2	6549	broad.mit.edu	37	2	103318936	103318936	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:103318936G>A	ENST00000233969.2	+	9	1962	c.1820G>A	c.(1819-1821)aGa>aAa	p.R607K		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	607						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTCTTATCAAGAAATCTCTAT	0.338000													43	51					0	0	0.010771	0	0
KCNK10	54207	broad.mit.edu	37	14	88652025	88652025	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:88652025C>T	ENST00000340700.5	-	7	1922	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	KCNK10_ENST00000319231.5_Missense_Mutation_p.E496K|KCNK10_ENST00000312350.5_Missense_Mutation_p.E496K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	491					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACATCTTTTCCGTCTCCTCC	0.502000													28	44					0	0	0.008361	0	0
VAX2	25806	broad.mit.edu	37	2	71160159	71160159	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:71160159C>T	ENST00000234392.2	+	3	730	c.698C>T	c.(697-699)tCc>tTc	p.S233F		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	233					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						AACCCGCTGTCCTCGGCCTCA	0.692000													8	18					0	0	0.003080	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39448358	39448358	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:39448358G>A	ENST00000308521.5	+	6	1360	c.1003_splice	c.e6+1	p.D335_splice	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	342					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGGCTACAAAGGTGAGACGTT	0.642000													27	49					0	0	0.005443	0	0
KLHL40	131377	broad.mit.edu	37	3	42732418	42732418	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:42732418C>T	ENST00000287777.4	+	5	1775	c.1675C>T	c.(1675-1677)Ctc>Ttc	p.L559F		NM_152393.2	NP_689606.2			kelch-like family member 40																		GGTGGGTACCCTCTATGCCAT	0.602000													19	26					0	0	0.006122	0	0
PDCD11	22984	broad.mit.edu	37	10	105203821	105203821	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr10:105203821G>A	ENST00000369797.3	+	34	5368	c.5274G>A	c.(5272-5274)aaG>aaA	p.K1758K		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1758					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGCCTAGCAAGGAGCGTGAGT	0.602000													13	11					0	0	0.013537	0	0
AHCTF1	25909	broad.mit.edu	37	1	247007213	247007213	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:247007213G>A	ENST00000366508.1	-	34	6650	c.6514C>T	c.(6514-6516)Cct>Tct	p.P2172S	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.P2137S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P2146S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2137	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGCTGTGCAGGAACCTCTATT	0.303000													6	20					0	0	0.001984	0	0
GDF3	9573	broad.mit.edu	37	12	7848075	7848075	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:7848075G>A	ENST00000329913.3	-	1	297	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	84					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGAGAAAGCGAAGTACATTC	0.483000													27	52					0	0	0.010818	0	0
CTAGE9	643854	broad.mit.edu	37	6	132032151	132032151	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:132032151C>T	ENST00000314099.8	-	1	55	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	3						integral to membrane				endometrium(1)|lung(1)	2						GCACCAGGCTCCTCCATAGCG	0.607000													19	18					0	0	0.010504	0	0
ADAM23	8745	broad.mit.edu	37	2	207426990	207426990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:207426990C>T	ENST00000264377.3	+	13	1646	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*	ADAM23_ENST00000374416.1_Nonsense_Mutation_p.Q440*|ADAM23_ENST00000374415.3_Nonsense_Mutation_p.Q440*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	440	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCTTGGAATCCAATGGGAACC	0.418000													65	160					0	0	0.014410	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822029	93822029	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:93822029G>A	ENST00000315765.9	+	12	2197	c.2189G>A	c.(2188-2190)gGg>gAg	p.G730E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	730					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGCGGTACGGGATGATAAGA	0.522000													6	55					0	0	0.001168	0	0
RELA	5970	broad.mit.edu	37	11	65427199	65427199	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:65427199C>A	ENST00000525693.1	-	6	559	c.497G>T	c.(496-498)cGg>cTg	p.R166L	RELA_ENST00000308639.9_Missense_Mutation_p.R163L|RELA_ENST00000406246.3_Missense_Mutation_p.R166L			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	166	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.R166L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGATGGGTCCCGCACTGTCAC	0.597000													4	90					0.000602214	0.00101453	0.000602	1	0
UNC93A	54346	broad.mit.edu	37	6	167719405	167719405	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:167719405C>T	ENST00000230256.3	+	6	1018	c.843C>T	c.(841-843)tcC>tcT	p.S281S	UNC93A_ENST00000366829.2_Silent_p.S239S	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	281						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTCCCCAGTCCTATGTCACCT	0.592000													92	281					0	0	0.014410	0	0
UPK1A	11045	broad.mit.edu	37	19	36159518	36159518	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:36159518G>A	ENST00000222275.2	+	2	247	c.247G>A	c.(247-249)Ggt>Agt	p.G83S	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.G83S	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	83					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTTTGGTGTGGGTGCCGCACT	0.587000													11	10					0	0	0.008291	0	0
STON1	11037	broad.mit.edu	37	2	48807854	48807854	+	Missense_Mutation	SNP	C	C	T	rs144911860		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:48807854C>T	ENST00000309835.3	+	1	92	c.82C>T	c.(82-84)Cct>Tct	p.P28S	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P28S|STON1_ENST00000406226.1_Missense_Mutation_p.P28S|STON1_ENST00000404752.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P28S					stonin 1									p.P28S(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAATTTTCCTCTGGAGAA	0.473000													18	50					0	0	0.007413	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999149	27999149	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:27999149C>T	ENST00000441525.1	-	1	417	c.303G>A	c.(301-303)gaG>gaA	p.E101E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	101	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						cttcttcctcctccCTTTCTG	0.493000													33	13					0	0	0.003271	0	0
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	rs121434595		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498000	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			37	67					0	0	0.014410	0	0
KIF2C	11004	broad.mit.edu	37	1	45226095	45226095	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:45226095G>A	ENST00000372217.1	+	14	1700	c.1349G>A	c.(1348-1350)aGt>aAt	p.S450N	RP11-269F19.2_ENST00000440985.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.S463N|KIF2C_ENST00000372222.3_Missense_Mutation_p.S391N|KIF2C_ENST00000372224.4_Missense_Mutation_p.S504N			Q99661	KIF2C_HUMAN	kinesin family member 2C	504	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GACACTTCCAGTGCTGACCGG	0.557000													11	24					0	0	0.010729	0	0
ARIH2OS	646450	broad.mit.edu	37	3	48956273	48956273	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:48956273C>T	ENST00000408959.2	-	1	545	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	ARIH2_ENST00000449376.1_5'UTR|ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000356401.4_5'UTR	NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		CCAAGCACTTCCGGAGCTGTG	0.711000													15	11					0	0	0.004007	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445222	99445222	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr7:99445222G>A	ENST00000354829.2	+	5	533	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.E144K|CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.E144K|CYP3A43_ENST00000415413.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	144			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AAAATTCAAGGAAGTAAGAAA	0.348000													29	68					0	0	0.006320	0	0
ACSF3	197322	broad.mit.edu	37	16	89180872	89180872	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:89180872T>C	ENST00000317447.4	+	6	1480	c.1103T>C	c.(1102-1104)cTg>cCg	p.L368P	ACSF3_ENST00000378345.4_Missense_Mutation_p.L103P|ACSF3_ENST00000406948.3_Missense_Mutation_p.L368P|CTD-2555A7.3_ENST00000562782.1_RNA	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	368					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TCCGGGCCCCTGACCACTGCC	0.647000													24	44					0	0	0.006320	0	0
ECEL1	9427	broad.mit.edu	37	2	233349193	233349193	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:233349193G>A	ENST00000304546.1	-	6	1383	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	ECEL1_ENST00000409941.1_Silent_p.S391S	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	391					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTGGGGTGTGGAGCGGATGA	0.592000													81	99					0	0	0.014410	0	0
TMEM167B	56900	broad.mit.edu	37	1	109635608	109635608	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:109635608C>T	ENST00000338272.7	+	2	245	c.107C>T	c.(106-108)tCa>tTa	p.S36L	TMEM167B_ENST00000473828.1_3'UTR	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	36						Golgi membrane|integral to membrane				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						TGGCTGCTATCAGAGAAGAAG	0.483000													127	257					0	0	0.014410	0	0
GPX5	2880	broad.mit.edu	37	6	28501836	28501836	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:28501836C>T	ENST00000412168.2	+	5	647	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	186					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TTGAAAAGTTCCTGGTGGGGC	0.507000													28	93					0	0	0.008361	0	0
SSTR2	6752	broad.mit.edu	37	17	71165665	71165665	+	Silent	SNP	C	C	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:71165665C>A	ENST00000357585.2	+	2	576	c.207C>A	c.(205-207)ctC>ctA	p.L69L	SSTR2_ENST00000315332.2_Silent_p.L69L|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	69					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			ATGTCATCCTCCGCTATGCCA	0.473000													54	74					2.14255e-21	3.68001e-21	0.014410	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64633651	64633651	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:64633651G>A	ENST00000498707.1	-	11	2017	c.1675C>T	c.(1675-1677)Ccc>Tcc	p.P559S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P531S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	559	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCGGCCCAGGGTGTGTGCTGA	0.512000													165	401					0	0	0.014410	0	0
SULT2B1	6820	broad.mit.edu	37	19	49100031	49100031	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:49100031C>T	ENST00000323090.4	+	5	1011	c.636C>T	c.(634-636)ttC>ttT	p.F212F	SULT2B1_ENST00000201586.2_Silent_p.F227F|SULT2B1_ENST00000594274.1_3'UTR	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	227					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCTGTGGGTTCCTGGGCCGTC	0.652000													4	20					0	0	0.000602	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134464268	134464268	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:134464268G>A	ENST00000372195.1	-	17	2709	c.2466C>T	c.(2464-2466)atC>atT	p.I822I	RAPGEF1_ENST00000372189.3_Silent_p.I805I|RAPGEF1_ENST00000372190.3_Silent_p.I823I			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	805					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCTTGTCCAGGATGTTCTTCC	0.612000													22	18					0	0	0.002780	0	0
SEPSECS	51091	broad.mit.edu	37	4	25125709	25125709	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:25125709G>A	ENST00000382103.2	-	11	1422	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	SEPSECS_ENST00000302922.3_Silent_p.F371F	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	450					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	GTCTCTTTATGAACAGGTCCA	0.378000													23	47					0	0	0.003954	0	0
RMDN3	55177	broad.mit.edu	37	15	41029489	41029489	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:41029489G>A	ENST00000260385.6	-	10	2342	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	RMDN3_ENST00000338376.3_Silent_p.S425S					regulator of microtubule dynamics 3																		AGTTTACCTTGGAAATATATA	0.393000													43	98					0	0	0.014410	0	0
ITIH3	3699	broad.mit.edu	37	3	52836407	52836407	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:52836407G>A	ENST00000449956.2	+	12	1447	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	ITIH3_ENST00000416872.2_Missense_Mutation_p.E481K	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	481					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGAGTACCCCGAGAACGCTAT	0.602000													16	38					0	0	0.004990	0	0
CBX2	84733	broad.mit.edu	37	17	77755762	77755762	+	Silent	SNP	C	C	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:77755762C>A	ENST00000269399.5	+	4	492	c.450C>A	c.(448-450)ctC>ctA	p.L150L	CBX2_ENST00000310942.4_Intron	NM_032647.3	NP_116036.1	Q14781	CBX2_HUMAN	chromobox homolog 2	0					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTGTCTCTCAGCTTCTGCT	0.652000													36	98					6.19805e-25	1.06836e-24	0.005524	1	0
MAP3K10	4294	broad.mit.edu	37	19	40719064	40719064	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:40719064C>T	ENST00000253055.3	+	8	2094	c.1806C>T	c.(1804-1806)atC>atT	p.I602I		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	602					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACACACCCATCGCCCCTGGCT	0.627000													5	7					0	0	0.001984	0	0
CDH17	1015	broad.mit.edu	37	8	95201422	95201422	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:95201422A>T	ENST00000027335.3	-	3	267	c.143T>A	c.(142-144)aTa>aAa	p.I48K	CDH17_ENST00000450165.2_Missense_Mutation_p.I48K|CDH17_ENST00000441892.2_Missense_Mutation_p.I48K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	48	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TACCTGGAATATAATTTGACT	0.388000													45	16					0	0	0.014410	0	0
OAS2	4939	broad.mit.edu	37	12	113425019	113425019	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:113425019C>T	ENST00000392583.2	+	2	561	c.354C>T	c.(352-354)ttC>ttT	p.F118F	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.F118F|OAS2_ENST00000449768.2_Silent_p.F118F	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	118	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACAATTTCGAGATCCAGA	0.458000													18	38					0	0	0.008871	0	0
MB	4151	broad.mit.edu	37	22	36007060	36007060	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:36007060C>T	ENST00000397326.2	-	2	387	c.189G>A	c.(187-189)aaG>aaA	p.K63K	MB_ENST00000406324.1_Silent_p.K63K|MB_ENST00000359787.1_Silent_p.K63K|MB_ENST00000401702.1_Silent_p.K8K|MB_ENST00000397328.1_Silent_p.K63K	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	63							heme binding|oxygen transporter activity			lung(1)	1						CACCATGCTTCTTTAAGTCCT	0.547000													19	50					0	0	0.008871	0	0
CRB2	286204	broad.mit.edu	37	9	126132428	126132428	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:126132428C>T	ENST00000373631.3	+	7	1097	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	CRB2_ENST00000373629.2_Missense_Mutation_p.P34S|CRB2_ENST00000359999.3_Missense_Mutation_p.P366S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	366	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCTGTCGGATCCCTGCCTGCA	0.577000													20	81					0	0	0.012319	0	0
RTP1	132112	broad.mit.edu	37	3	186915556	186915556	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:186915556G>A	ENST00000312295.4	+	1	283	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	85					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCAGTACCTGGAATTGCATGC	0.572000													24	52					0	0	0.003954	0	0
ZNF385B	151126	broad.mit.edu	37	2	180308074	180308074	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:180308074G>A	ENST00000410066.1	-	10	1922	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L	ZNF385B_ENST00000336917.5_Missense_Mutation_p.S338L|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.S338L|ZNF385B_ENST00000409343.1_Missense_Mutation_p.S364L	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	440						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTGGAAGAGCGAGGCAGAGGG	0.642000													17	26					0	0	0.004990	0	0
KDM5B	10765	broad.mit.edu	37	1	202709872	202709872	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:202709872G>A	ENST00000367265.3	-	20	4178	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1041L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1005					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGCACCATTGGGCAGATATGC	0.453000													12	38					0	0	0.010729	0	0
CTB-171A8.1	0	broad.mit.edu	37	19	45202386	45202386	+	RNA	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:45202386C>T	ENST00000590796.1	-	0	375																											atgtcggccccctgagggcag	0.438000													55	85					0	0	0.014410	0	0
TPD52L2	7165	broad.mit.edu	37	20	62520563	62520563	+	Missense_Mutation	SNP	C	C	T	rs150777439		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:62520563C>T	ENST00000217121.5	+	8	638	c.566C>T	c.(565-567)tCg>tTg	p.S189L	TPD52L2_ENST00000352482.4_Missense_Mutation_p.S180L|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S160L|TPD52L2_ENST00000369927.4_Missense_Mutation_p.S123L|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S146L|TPD52L2_ENST00000346249.4_Missense_Mutation_p.S166L|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S169L	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	166					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	p.S189L(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ACCTTCAAGTCGTTTGAGGAC	0.483000													31	14					0	0	0.004289	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120032	103120032	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:103120032C>T	ENST00000295269.4	+	3	1303	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	282					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGTTTGGCATCGTTTTTGGAT	0.398000													27	30					0	0	0.008361	0	0
DBF4B	80174	broad.mit.edu	37	17	42828618	42828618	+	Silent	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:42828618T>C	ENST00000315005.3	+	14	1983	c.1845T>C	c.(1843-1845)ggT>ggC	p.G615G	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	615					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TAGACTCAGGTTAGAGGTGAA	0.552000													29	32					0	0	0.006320	0	0
FHL5	9457	broad.mit.edu	37	6	97052625	97052625	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:97052625G>A	ENST00000326771.2	+	4	539		c.e4-1		FHL5_ENST00000541107.1_Splice_Site	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5							nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTGTCTCAAAGGATCTTTGTT	0.413000													34	36					0	0	0.003271	0	0
FSHR	2492	broad.mit.edu	37	2	49190127	49190127	+	Silent	SNP	C	C	T	rs146663905		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:49190127C>T	ENST00000406846.2	-	10	1952	c.1833G>A	c.(1831-1833)ctG>ctA	p.L611L	FSHR_ENST00000304421.4_Silent_p.L585L|FSHR_ENST00000541117.1_Silent_p.L347L|FSHR_ENST00000346173.3_Silent_p.L549L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	611					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAAACAGAACCAGCAGAATCT	0.478000									Gonadal Dysgenesis, 46 XX				18	44					0	0	0.010504	0	0
ZNF141	7700	broad.mit.edu	37	4	367299	367299	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:367299A>G	ENST00000240499.7	+	4	1222	c.1073A>G	c.(1072-1074)aAg>aGg	p.K358R	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	358			K -> N (in dbSNP:rs2018645).		anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AATGAACATAAGAAAGTTCAT	0.403000													6	25					0	0	0.001168	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925358	54925358	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:54925358C>T	ENST00000293373.6	+	24	2767	c.2688C>T	c.(2686-2688)ccC>ccT	p.P896P	NCKAP1L_ENST00000545638.2_Silent_p.P846P	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	896					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCTGCTGCCCCAGCTGACAG	0.512000													33	51					0	0	0.003755	0	0
SALL1	6299	broad.mit.edu	37	16	51172857	51172857	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:51172857G>A	ENST00000440970.1	-	2	3416	c.2985C>T	c.(2983-2985)ttC>ttT	p.F995F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.F1092F|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1092					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAACATGCACGAAGCCGTTGA	0.567000													22	50					0	0	0.002780	0	0
SCAND3	114821	broad.mit.edu	37	6	28543044	28543044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:28543044G>A	ENST00000452236.2	-	3	2055	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	480	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATCCTCTTTCGGATATCCTCA	0.423000													53	48					0	0	0.014410	0	0
LRRN1	57633	broad.mit.edu	37	3	3886905	3886905	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:3886905G>A	ENST00000319331.3	+	2	1341	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	194						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACCCAACCTGGAAATTCTCAT	0.393000													41	83					0	0	0.008740	0	0
GDPD4	220032	broad.mit.edu	37	11	76940248	76940248	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:76940248G>A	ENST00000315938.4	-	14	1669	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	GDPD4_ENST00000376217.2_Silent_p.L473L	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	473					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TATCTGCAAGGAGCCACATGA	0.318000													14	8					0	0	0.004007	0	0
JPH1	56704	broad.mit.edu	37	8	75227730	75227730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:75227730C>A	ENST00000342232.4	-	2	545	c.505G>T	c.(505-507)Gag>Tag	p.E169*		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	169					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGCTCTGCTCGCTGCGCAGC	0.711000													10	5					0.000978159	0.00164501	0.010729	1	0
PRDM11	56981	broad.mit.edu	37	11	45117445	45117445	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:45117445G>A	ENST00000263765.4	+	2	338	c.89G>A	c.(88-90)aGa>aAa	p.R30K	PRDM11_ENST00000530656.1_Missense_Mutation_p.R30K			Q9NQV5	PRD11_HUMAN	PR domain containing 11	30										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ctttaccagagagagaaagta	0.488000													22	29					0	0	0.010504	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90534220	90534220	+	RNA	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:90534220G>A	ENST00000602681.1	+	0	966																											CAACAGGGCGGAGGGGGAGGC	0.572000													27	94					0	0	0.008361	0	0
COL21A1	81578	broad.mit.edu	37	6	56035873	56035873	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:56035873C>T	ENST00000244728.5	-	4	1091	c.694G>A	c.(694-696)Gat>Aat	p.D232N	COL21A1_ENST00000370819.1_Missense_Mutation_p.D232N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D232N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	232	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAAAGAATATCAAATCCCCTT	0.313000													30	81					0	0	0.006320	0	0
ENPEP	2028	broad.mit.edu	37	4	111398053	111398053	+	Silent	SNP	C	C	T	rs146450390		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:111398053C>T	ENST00000265162.5	+	1	825	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	161					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.F161F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGAGGTGTTTCGAGTACAAAA	0.627000													51	132					0	0	0.014410	0	0
IGHV3-66	28412	broad.mit.edu	37	14	107131067	107131067	+	RNA	SNP	C	C	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:107131067C>G	ENST00000390632.2	-	0	392																											GTCCTCAGCTCTCAGGCTGTT	0.537000													7	146					0	0	0.013537	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79734516	79734516	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:79734516C>T	ENST00000338008.5	+	3	2192	c.2012C>T	c.(2011-2013)cCa>cTa	p.P671L	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P671L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P671L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	671					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CCAGATGTTCCAGATACAATA	0.423000													17	33					0	0	0.006122	0	0
HSD3B7	80270	broad.mit.edu	37	16	30997842	30997842	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:30997842C>T	ENST00000262520.6	+	4	711	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	HSD3B7_ENST00000353250.5_Missense_Mutation_p.P141S|HSD3B7_ENST00000297679.5_Missense_Mutation_p.P141S	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	141					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAAGGTCACCCCTTCTACAG	0.572000													14	31					0	0	0.001855	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135770138	135770138	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chrX:135770138C>T	ENST00000250617.6	-	11	2403	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.D273N|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.D246N|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.D246N	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	400	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TCCTGATGATCTGGATGAGTA	0.383000													5	59					0	0	0.000602	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150271	92150271	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:92150271C>T	ENST00000256343.3	-	11	1037	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	294					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCACAGTTTTCCTTTCACATA	0.254000													26	65					0	0	0.007291	0	0
PDE6A	5145	broad.mit.edu	37	5	149286902	149286902	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:149286902G>A	ENST00000255266.5	-	7	1157	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	346	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CATAAGCTGGGAGACCGCTTA	0.468000													32	55					0	0	0.012213	0	0
STARD13	90627	broad.mit.edu	37	13	33679773	33679773	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr13:33679773G>A	ENST00000336934.5	-	14	3415	c.3299C>T	c.(3298-3300)tCt>tTt	p.S1100F	STARD13_ENST00000399365.3_Missense_Mutation_p.S982F|STARD13_ENST00000255486.4_Missense_Mutation_p.S1092F	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	1100	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGCTGGAAAGAGTTTCTAAT	0.483000													55	30					0	0	0.014410	0	0
AARS	16	broad.mit.edu	37	16	70288564	70288564	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:70288564G>A	ENST00000261772.8	-	17	2503	c.2360C>T	c.(2359-2361)cCa>cTa	p.P787L		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	787					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	ATCCTTGTTTGGAGCAGTCTG	0.582000													24	39					0	0	0.007291	0	0
GPR84	53831	broad.mit.edu	37	12	54757371	54757371	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:54757371C>A	ENST00000551809.1	-	1	900	c.265G>T	c.(265-267)Ggt>Tgt	p.G89C	GPR84_ENST00000267015.3_Missense_Mutation_p.G89C|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	89						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AAGGTGGCACCGGTGCGCCAG	0.577000													3	21					0.004672	0.00784344	0.004672	1	0
CLC	1178	broad.mit.edu	37	19	40222125	40222125	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:40222125G>A	ENST00000221804.4	-	4	399	c.324C>T	c.(322-324)tcC>tcT	p.S108S		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	108	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		AGGTGTAAGAGGATTGGCCAT	0.403000													64	111					0	0	0.014410	0	0
MECOM	2122	broad.mit.edu	37	3	168834197	168834197	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr3:168834197G>A	ENST00000464456.1	-	7	2099	c.899C>T	c.(898-900)tCt>tTt	p.S300F	MECOM_ENST00000433243.2_Missense_Mutation_p.S301F|MECOM_ENST00000468789.1_Missense_Mutation_p.S300F|MECOM_ENST00000392736.3_Missense_Mutation_p.S300F|MECOM_ENST00000460814.1_Missense_Mutation_p.S300F|MECOM_ENST00000472280.1_Missense_Mutation_p.S301F|MECOM_ENST00000264674.3_Missense_Mutation_p.S365F|MECOM_ENST00000494292.1_Missense_Mutation_p.S488F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAAGCTAAAAGAAAATCCAGG	0.478000													17	30					0	0	0.007413	0	0
KMT2A	4297	broad.mit.edu	37	11	118368765	118368765	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:118368765G>A	ENST00000534358.1	+	21	5802	c.5779G>A	c.(5779-5781)Gct>Act	p.A1927T	KMT2A_ENST00000389506.5_Missense_Mutation_p.A1924T|KMT2A_ENST00000354520.4_Missense_Mutation_p.A1886T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGTGCATATGGCTGTGATCAG	0.418000													39	42					0	0	0.006999	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795577	69795577	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:69795577G>A	ENST00000251566.4	-	6	1568	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	UGT2A3_ENST00000420231.2_Missense_Mutation_p.S224F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	513						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTTTGACAGGAAAATAAAAA	0.383000													9	21					0	0	0.004482	0	0
MPP7	143098	broad.mit.edu	37	10	28358748	28358748	+	Missense_Mutation	SNP	C	C	T	rs147738330		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr10:28358748C>T	ENST00000337532.5	-	14	1433	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	MPP7_ENST00000375719.3_Missense_Mutation_p.R386Q|MPP7_ENST00000445954.2_Missense_Mutation_p.R261Q|MPP7_ENST00000375732.1_Missense_Mutation_p.R386Q|MPP7_ENST00000540098.1_Missense_Mutation_p.R386Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	386	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CAGCAGCTTTCGTTTCAGTTC	0.438000													10	9					0	0	0.008291	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902794	4902794	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:4902794C>T	ENST00000381781.2	-	1	85	c.86G>A	c.(85-87)aGa>aAa	p.R29K		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	29					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CAGGTAGATTCTATCCTCGGG	0.557000													26	64					0	0	0.004656	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958927	51958927	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:51958927C>T	ENST00000321424.3	-	4	862	c.796G>A	c.(796-798)Gga>Aga	p.G266R	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G157R|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G173R	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	266	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGCCATTTCCCAGGGCTGTG	0.532000													17	35					0	0	0.007413	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965577	35965577	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:35965577C>T	ENST00000274278.3	-	4	1111	c.754G>A	c.(754-756)Gat>Aat	p.D252N	UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198N|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252N|UGT3A1_ENST00000507113.1_Missense_Mutation_p.D218N	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	252						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGCAAAATCAGAGTTAACA	0.433000													26	50					0	0	0.003330	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57470617	57470617	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:57470617G>A	ENST00000394391.4	-	4	579	c.338C>T	c.(337-339)tCt>tTt	p.S113F	CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S113F|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S113F|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000565961.1_Intron|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S100F|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S113F	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	113					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ACACAGCTTAGATGCTGTCTT	0.388000													18	29					0	0	0.007413	0	0
RPTN	126638	broad.mit.edu	37	1	152127263	152127263	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:152127263C>T	ENST00000316073.3	-	3	2376	c.2312G>A	c.(2311-2313)cGa>cAa	p.R771Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	771	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGCCTGTCTCGTCTCTGACG	0.473000													154	256					0	0	0.014410	0	0
PXDNL	137902	broad.mit.edu	37	8	52321172	52321172	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr8:52321172G>A	ENST00000356297.4	-	17	3112	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	PXDNL_ENST00000543296.1_Silent_p.I1004I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1004					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCGCGCCCACGATCTTCCTGG	0.622000													13	1					0	0	0.001855	0	0
LINC00669	647946	broad.mit.edu	37	18	37202092	37202092	+	RNA	SNP	A	A	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr18:37202092A>T	ENST00000591629.1	-	0	282					NR_024391.1																						AATCAGTTgtagactctaggt	0.438000													23	49					0	0	0.003954	0	0
RGS6	9628	broad.mit.edu	37	14	72944999	72944999	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:72944999C>T	ENST00000553530.1	+	12	1023	c.816C>T	c.(814-816)atC>atT	p.I272I	RGS6_ENST00000556437.1_Silent_p.I272I|RGS6_ENST00000434263.2_Silent_p.I203I|RGS6_ENST00000407322.4_Silent_p.I272I|RGS6_ENST00000555571.1_Silent_p.I272I|RGS6_ENST00000355512.6_Silent_p.I272I|RGS6_ENST00000553525.1_Silent_p.I272I|RGS6_ENST00000554782.1_Silent_p.I133I|RGS6_ENST00000404301.2_Silent_p.I272I|RGS6_ENST00000343854.6_Silent_p.I272I|RGS6_ENST00000402788.2_Silent_p.I272I|RGS6_ENST00000406236.4_Silent_p.I272I	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	272	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACGCACAGATCGACAGACATT	0.338000													7	22					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9072100	9072100	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:9072100C>T	ENST00000397910.4	-	3	15549	c.15346G>A	c.(15346-15348)Gaa>Aaa	p.E5116K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5118	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAAAATTTCCTTTGTGTCT	0.443000													42	79					0	0	0.006999	0	0
QRSL1	55278	broad.mit.edu	37	6	107102635	107102635	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:107102635G>A	ENST00000369046.4	+	8	984	c.880G>A	c.(880-882)Gta>Ata	p.V294I		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	294					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		ATCAAGTGAAGTACAGTCTCT	0.358000													24	30					0	0	0.006320	0	0
IP6K3	117283	broad.mit.edu	37	6	33690635	33690635	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:33690635G>A	ENST00000451316.1	-	7	1630	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	IP6K3_ENST00000293756.4_Silent_p.I365I	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	365					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CAATCATGCGGATGTCAACCT	0.572000													42	91					0	0	0.010771	0	0
USH1C	10083	broad.mit.edu	37	11	17531243	17531243	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:17531243G>A	ENST00000005226.7	-	18	1672	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CAAGGCAGAGGGAGTCTTGGG	0.632000													21	10					0	0	0.014323	0	0
SMIM21	284274	broad.mit.edu	37	18	73130764	73130764	+	Silent	SNP	T	T	C			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr18:73130764T>C	ENST00000584508.1	-	2	355	c.237A>G	c.(235-237)aaA>aaG	p.K79K	SMIM21_ENST00000382638.3_Intron|SMIM21_ENST00000579022.1_Silent_p.K79K|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron					small integral membrane protein 21																		tgttggcccttttccagtctt	0.368000													37	66					0	0	0.009718	0	0
C2CD2	25966	broad.mit.edu	37	21	43338986	43338986	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr21:43338986G>A	ENST00000380486.3	-	4	817	c.576C>T	c.(574-576)atC>atT	p.I192I	C2CD2_ENST00000329623.7_Silent_p.I37I	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	192						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTTTGGGCTGGATATTAACGG	0.483000													51	21					0	0	0.014410	0	0
CERCAM	51148	broad.mit.edu	37	9	131198142	131198142	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:131198142C>T	ENST00000372842.1	+	13	4656	c.1512C>T	c.(1510-1512)agC>agT	p.S504S	CERCAM_ENST00000372838.4_Silent_p.S582S			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	582					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TGACTGGCAGCAGCGGGCACA	0.667000													4	13					0	0	0.000602	0	0
MYBPHL	343263	broad.mit.edu	37	1	109839796	109839796	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:109839796G>A	ENST00000357155.1	-	4	495	c.446C>T	c.(445-447)cCt>cTt	p.P149L	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	149	Fibronectin type-III.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AATACTCTGAGGAGGGCCTGG	0.557000													113	241					0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10356643	10356643	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:10356643C>T	ENST00000255381.2	-	24	3047	c.2937G>A	c.(2935-2937)gtG>gtA	p.V979V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	979					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGGTTTTTCACCTTTAGAT	0.438000													44	87					0	0	0.014410	0	0
LGALS8	3964	broad.mit.edu	37	1	236702356	236702356	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:236702356G>A	ENST00000526589.1	+	7	832	c.312G>A	c.(310-312)gaG>gaA	p.E104E	LGALS8_ENST00000416919.2_Silent_p.E104E|LGALS8_ENST00000450372.2_Silent_p.E104E|LGALS8_ENST00000352231.2_Silent_p.E104E|LGALS8_ENST00000366584.4_Silent_p.E104E|LGALS8_ENST00000341872.6_Silent_p.E104E|LGALS8_ENST00000525042.1_Silent_p.E104E|LGALS8_ENST00000526634.1_Silent_p.E104E|LGALS8_ENST00000323938.6_Silent_p.E77E|LGALS8_ENST00000527974.1_Silent_p.E104E			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	104	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTCTTTTGAGATCGTGATTA	0.453000													10	37					0	0	0.008291	0	0
UBA2	10054	broad.mit.edu	37	19	34921554	34921554	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:34921554C>G	ENST00000246548.4	+	2	282	c.212C>G	c.(211-213)tCa>tGa	p.S71*	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	71					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTTGGAAGATCAAAGGCACAG	0.348000													6	81					0	0	0.001984	0	0
ZNF280D	54816	broad.mit.edu	37	15	56946417	56946417	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:56946417G>A	ENST00000559237.1	-	18	2836	c.2153C>T	c.(2152-2154)cCa>cTa	p.P718L	ZNF280D_ENST00000559000.1_Intron|ZNF280D_ENST00000267807.7_Missense_Mutation_p.P731L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTCAGAAGTTGGGATACAAAC	0.279000													24	62					0	0	0.005443	0	0
SCG2	7857	broad.mit.edu	37	2	224463209	224463209	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:224463209C>T	ENST00000305409.2	-	2	1024	c.792G>A	c.(790-792)gaG>gaA	p.E264E		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	264					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGTCTCTCACCTCTTCCTGGG	0.433000													101	121					0	0	0.014410	0	0
APLP1	333	broad.mit.edu	37	19	36369000	36369000	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:36369000C>T	ENST00000221891.4	+	13	1761	c.1569C>T	c.(1567-1569)acC>acT	p.T523T	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Silent_p.T483T|APLP1_ENST00000586861.1_Silent_p.T516T	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	522					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCCATGACCCTTCCAAAAG	0.532000													68	121					0	0	0.014410	0	0
PER1	5187	broad.mit.edu	37	17	8052955	8052955	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:8052955G>A	ENST00000317276.4	-	6	915	c.678C>T	c.(676-678)ttC>ttT	p.F226F	PER1_ENST00000581082.1_Intron|PER1_ENST00000354903.5_Silent_p.F210F	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	226	PAS 1.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCCGTCAGGAAGGAGACAG	0.612000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					54	66					0	0	0.014410	0	0
ABCA12	26154	broad.mit.edu	37	2	215901740	215901740	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:215901740C>A	ENST00000272895.7	-	8	1141	c.922G>T	c.(922-924)Ggt>Tgt	p.G308C	AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	308					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTCTGAAACCTTCGTTAGTT	0.413000													46	55					1.83081e-24	3.15016e-24	0.014410	1	0
DNAH7	56171	broad.mit.edu	37	2	196786857	196786857	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:196786857T>A	ENST00000312428.6	-	24	3990	c.3890A>T	c.(3889-3891)aAt>aTt	p.N1297I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1297	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTAGGGGAATTACCCAGATA	0.338000													12	25					0	0	0.003163	0	0
CLGN	1047	broad.mit.edu	37	4	141311862	141311862	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr4:141311862C>T	ENST00000325617.5	-	14	2112	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	CLGN_ENST00000537281.1_Missense_Mutation_p.E558K|CLGN_ENST00000414773.1_Missense_Mutation_p.E558K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	558					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCACTCTTTTCCTCAGGTTCA	0.318000													15	32					0	0	0.002450	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159496	92159496	+	Missense_Mutation	SNP	G	G	A	rs139686935		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr14:92159496G>A	ENST00000256343.3	-	9	961	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	269					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R269C(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GATGGATAACGAAGATCTTCA	0.323000													28	49					0	0	0.008361	0	0
CFH	3075	broad.mit.edu	37	1	196711158	196711158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:196711158G>A	ENST00000367429.4	+	19	3350	c.3110G>A	c.(3109-3111)tGg>tAg	p.W1037*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1037	Sushi 17.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATAGCAGATGGACAGGAAGG	0.433000													18	34					0	0	0.010504	0	0
GPR142	350383	broad.mit.edu	37	17	72368424	72368424	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:72368424C>T	ENST00000335666.4	+	4	1122	c.1074C>T	c.(1072-1074)atC>atT	p.I358I		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	358						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GCACAGCCATCCTCCTGGGCA	0.662000													43	24					0	0	0.010771	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347137	89347137	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:89347137G>A	ENST00000301030.4	-	9	6273	c.5813C>T	c.(5812-5814)cCc>cTc	p.P1938L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1938L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1938	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGCTGAAGGGACCCTCGTC	0.701000													19	40					0	0	0.010504	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967326	133967326	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr10:133967326G>A	ENST00000298622.4	+	17	2269	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTGGAGAGCGAGAAGGTTGG	0.597000													96	44					0	0	0.014410	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136262	220136262	+	RNA	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:220136262G>A	ENST00000490341.1	+	0	732					NR_003063.1																						CCCTCAATGTGGACCTGACAG	0.537000													18	35					0	0	0.007413	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283633	40283633	+	Silent	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:40283633G>A	ENST00000325157.6	-	2	370	c.120C>T	c.(118-120)atC>atT	p.I40I		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	40	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TCAAGTCACTGATATCTAACA	0.403000													24	67					0	0	0.002780	0	0
PCDH15	65217	broad.mit.edu	37	10	55973797	55973797	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr10:55973797C>T	ENST00000373965.2	-	10	1391	c.997G>A	c.(997-999)Gat>Aat	p.D333N	PCDH15_ENST00000395440.1_Missense_Mutation_p.D333N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D338N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D333N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D333N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D333N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D296N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D333N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D333N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D311N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D333N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D311N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.D333N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D333N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D333N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	333	Cadherin 3.				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)				CGTGGGTAATCCTCAGGAGTC	0.383000										HNSCC(58;0.16)			27	14					0	0	0.008361	0	0
OR2T34	127068	broad.mit.edu	37	1	248738036	248738036	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:248738036G>A	ENST00000328782.2	-	1	44	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGATTCTGAGAAGTCTGATT	0.453000													18	51					0	0	0.002780	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630334	43630334	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:43630334G>A	ENST00000431635.2	-	9	1163	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.P284S	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	284					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCTTGCCAGGCCTCTTGAGG	0.572000													27	57					0	0	0.006320	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839817	40839817	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:40839817C>T	ENST00000264638.4	+	8	1341	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	375					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTCAAGTGCCCGGTTTCCCA	0.622000													23	64					0	0	0.002780	0	0
SPTLC3	55304	broad.mit.edu	37	20	13055015	13055015	+	Silent	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:13055015C>T	ENST00000399002.2	+	4	751	c.477C>T	c.(475-477)atC>atT	p.I159I	SPTLC3_ENST00000378194.4_Silent_p.I159I	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	159					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GAAGAGTCATCAAAGATGTCA	0.433000													18	57					0	0	0.007413	0	0
OVOL2	58495	broad.mit.edu	37	20	18022346	18022346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr20:18022346C>T	ENST00000278780.6	-	3	585	c.343G>A	c.(343-345)Gac>Aac	p.D115N	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	115					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACCACCGAGTCGCTGCACGTG	0.612000													26	23					0	0	0.006320	0	0
EPS8	2059	broad.mit.edu	37	12	15800062	15800062	+	Splice_Site	DEL	T	T	-			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr12:15800062delT	ENST00000281172.5	-	15	2003	c.1568_splice	c.e15+1	p.R523_splice	EPS8_ENST00000543612.1_Splice_Site_p.R523_splice|EPS8_ENST00000540613.1_Splice_Site_p.R263_splice|EPS8_ENST00000542903.1_Splice_Site_p.R263_splice|EPS8_ENST00000543523.1_Splice_Site_p.R523_splice	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	523					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AAATGTTACCTATCTATATGG	0.438													19	78	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:29372348delT	ENST00000398878.3	+	0	1186				SNX29P2_ENST00000507381.1_RNA																							TGGGAGGttgttttttttttt	0.478													3	4	---	---	---	---					
FASN	2194	broad.mit.edu	37	17	80042479	80042499	+	In_Frame_Del	DEL	CAGGGCAGGTGGGCTGGGCAT	CAGGGCAGGTGGGCTGGGCAT	-	rs142506451		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:80042479_80042499delCAGGGCAGGTGGGCTGGGCAT	ENST00000306749.2	-	27	4876_4896	c.4658_4678delATGCCCAGCCCACCTGCCCTG	c.(4657-4680)cgc>c	p.HAQPTCPG1553del		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1553					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGCTGGGCGCCAGGGCAGGTGGGCTGGGCATGGCGCAGCGA	0.656													6	11	---	---	---	---