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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAM190A	401145	broad.mit.edu	37	4	91229641	91229641	+	Missense_Mutation	SNP	G	C	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	uc003hsv.4	+	1	546	c.206G>C	c.(205-207)aGc>aCc	p.S69T	FAM190A_uc003hsu.3_Missense_Mutation_p.S69T|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.S69T	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	69	Ser-rich.									NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTTCCATTAGCTTCCACCAT	0.468000														57			23		0	0	0.005443	0	0
PLXNA1	5361	broad.mit.edu	37	3	126730847	126730847	+	Missense_Mutation	SNP	G	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.chr3:126730847G>T	uc003ejg.3	+	8	2159	c.2159G>T	c.(2158-2160)gGa>gTa	p.G720V		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	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														42			25		1.5548e-18	2.34513e-18	0.005443	1	0
KIAA1257	57501	broad.mit.edu	37	3	128696912	128696912	+	Missense_Mutation	SNP	C	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.chr3:128696912C>T	uc003elj.4	-	4	980	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KIAA1257_uc003elg.1_Missense_Mutation_p.E262K|KIAA1257_uc003eli.4_Missense_Mutation_p.E150K	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	262										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGTGTTTTTCTGTTTTTTCT	0.463000														51			20		0	0	0.008871	0	0
PTPRD	5789	broad.mit.edu	37	9	8341825	8341825	+	Silent	SNP	G	A	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	uc003zkk.3	-	39	5558	c.4815C>T	c.(4813-4815)atC>atT	p.I1605I	PTPRD_uc003zkp.3_Silent_p.I1199I|PTPRD_uc003zkq.3_Silent_p.I1198I|PTPRD_uc003zkr.3_Silent_p.I1189I|PTPRD_uc003zks.3_Silent_p.I1198I|PTPRD_uc022bdj.1_Silent_p.I1195I	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	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)				104			79		0	0	0.014410	0	0
NLRP4	147945	broad.mit.edu	37	19	56369483	56369483	+	Missense_Mutation	SNP	G	A	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	uc002qmd.4	+	2	1146	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	NLRP4_uc002qmf.3_Missense_Mutation_p.E167K|NLRP4_uc010etf.3_Missense_Mutation_p.E73K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	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														85			29		0	0	0.012213	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599868	136599868	+	Missense_Mutation	SNP	G	A	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	uc003qgx.1	-	3	404	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	BCLAF1_uc003qgy.1_Missense_Mutation_p.R49C|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R49C|BCLAF1_uc003qgw.1_Missense_Mutation_p.R51C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	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														71			16		0	0	0.004990	0	0
BRD1	23774	broad.mit.edu	37	22	50217637	50217637	+	Missense_Mutation	SNP	G	A	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	uc011arg.2	-	0	343	c.329C>T	c.(328-330)aCg>aTg	p.T110M	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.T110M|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.T110M	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	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														69			21		0	0	0.003330	0	0
SCN11A	11280	broad.mit.edu	37	3	38888937	38888937	+	Missense_Mutation	SNP	G	A	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	uc021wvy.1	-	25	4823	c.4624C>T	c.(4624-4626)Ctc>Ttc	p.L1542F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	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														34			13		0	0	0.003163	0	0
CTR9	9646	broad.mit.edu	37	11	10786220	10786220	+	Silent	SNP	C	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.chr11:10786220C>T	uc001mja.3	+	11	1688	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	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														15			13		0	0	0.002450	0	0
PER1	5187	broad.mit.edu	37	17	8052955	8052955	+	Silent	SNP	G	A	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	uc002gkd.3	-	5	916	c.678C>T	c.(676-678)ttC>ttT	p.F226F	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.F210F|PER1_uc010vus.1_Silent_p.F226F	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	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						66			54		0	0	0.014410	0	0
AK310441	0	broad.mit.edu	37	1	148882025	148882025	+	RNA	SNP	C	T	T	rs150449871	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.chr1:148882025C>T	uc009wkv.1	+	2		c.246C>T								Homo sapiens cDNA, FLJ17483.																		TGTTTTCTAGCAGTGACAAAT	0.343000														44			6		0	0	0.001984	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719064	40719064	+	Silent	SNP	C	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.chr19:40719064C>T	uc002ona.3	+	7	2094	c.1806C>T	c.(1804-1806)atC>atT	p.I602I		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	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|JUN kinase kinase kinase activity|bHLH transcription factor binding|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														7			5		0	0	0.001984	0	0
C15orf55	256646	broad.mit.edu	37	15	34640773	34640774	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:34640773_34640774CC>TT	uc010ucc.2	+	2	1086_1087	c.704_705CC>TT	c.(703-705)tcc>tTT	p.S235F	C15orf55_uc010ucd.2_Missense_Mutation_p.S225F|C15orf55_uc001zif.3_Missense_Mutation_p.S207F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	207						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TCCAAAATTTCCAAGGACGTTT	0.554000			T	"""BRD3, BRD4"""	lethal midline carcinoma									37			16		0	0	0.004672	0	0
SRRM3	222183	broad.mit.edu	37	7	75877512	75877512	+	Silent	SNP	G	A	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	uc010ldi.2	+	2	449	c.240G>A	c.(238-240)tcG>tcA	p.S80S		NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GCAGGTATTCGGAGGAGGAGA	0.637000														12			9		0	0	0.006214	0	0
PLXNA4	91584	broad.mit.edu	37	7	131982905	131982905	+	Missense_Mutation	SNP	C	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.chr7:131982905C>T	uc003vra.4	-	3	1677	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	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														61			10		0	0	0.008291	0	0
USP26	83844	broad.mit.edu	37	X	132161249	132161249	+	Missense_Mutation	SNP	G	A	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	uc011mvf.2	-	0	1052	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	USP26_uc010nrm.1_Missense_Mutation_p.P334S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	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														9			20		0	0	0.014323	0	0
GPR142	350383	broad.mit.edu	37	17	72368424	72368424	+	Silent	SNP	C	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.chr17:72368424C>T	uc021ucp.1	+	3	1074	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	GPR142_uc010wqy.2_Silent_p.I358I	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	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														24			43		0	0	0.010771	0	0
TTN	7273	broad.mit.edu	37	2	179634535	179634535	+	Missense_Mutation	SNP	C	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.chr2:179634535C>T	uc021vsy.1	-	36	8998	c.8773G>A	c.(8773-8775)Gaa>Aaa	p.E2925K	TTN_uc021vsz.1_Missense_Mutation_p.E2879K|TTN_uc021vta.1_Missense_Mutation_p.E2879K|TTN_uc021vtb.1_Missense_Mutation_p.E2879K|TTN_uc002unb.2_Missense_Mutation_p.E2925K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2925	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														156			71		0	0	0.014410	0	0
FGF5	2250	broad.mit.edu	37	4	81207665	81207665	+	Silent	SNP	C	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.chr4:81207665C>T	uc003hmd.3	+	2	883	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	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														68			30		0	0	0.013726	0	0
PCLO	27445	broad.mit.edu	37	7	82585613	82585613	+	Silent	SNP	C	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.chr7:82585613C>T	uc003uhx.2	-	4	4945	c.4656G>A	c.(4654-4656)gaG>gaA	p.E1552E	PCLO_uc003uhv.2_Silent_p.E1552E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	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														53			35		0	0	0.003755	0	0
OR5D14	219436	broad.mit.edu	37	11	55563203	55563203	+	Missense_Mutation	SNP	C	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.chr11:55563203C>T	uc010rim.2	+	0	172	c.172C>T	c.(172-174)Cac>Tac	p.H58Y		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	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														43			48		0	0	0.014410	0	0
DNM1	1759	broad.mit.edu	37	9	130984863	130984863	+	Silent	SNP	C	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.chr9:130984863C>T	uc022bob.1	+	7	1203	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	DNM1_uc022bnx.1_Silent_p.F372F|DNM1_uc022bny.1_Silent_p.F372F|DNM1_uc022bnz.1_Silent_p.F372F|DNM1_uc022boa.1_Silent_p.F372F	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	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														66			53		0	0	0.014410	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761744	130761744	+	Silent	SNP	C	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.chr6:130761744C>T	uc003qcb.3	+	1	2555	c.177C>T	c.(175-177)tcC>tcT	p.S59S	TMEM200A_uc003qca.3_Silent_p.S59S|TMEM200A_uc010kfh.3_Silent_p.S59S|TMEM200A_uc010kfi.3_Silent_p.S59S|TMEM200A_uc021zfg.1_Silent_p.S59S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	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														78			64		0	0	0.014410	0	0
KIF2C	11004	broad.mit.edu	37	1	45226095	45226095	+	Missense_Mutation	SNP	G	A	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	uc001cmg.4	+	14	1626	c.1511G>A	c.(1510-1512)aGt>aAt	p.S504N	KIF2C_uc010olb.2_Missense_Mutation_p.S463N|KIF2C_uc010olc.2_Missense_Mutation_p.S391N|KIF2C_uc001cmh.4_Missense_Mutation_p.S450N	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	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														24			11		0	0	0.010729	0	0
MPPED2	744	broad.mit.edu	37	11	30433034	30433034	+	Missense_Mutation	SNP	G	A	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	uc001msr.3	-	5	987	c.866C>T	c.(865-867)cCa>cTa	p.P289L	MPPED2_uc001msq.3_Intron|MPPED2_uc009yji.3_Missense_Mutation_p.P163L	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	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														17			22		0	0	0.014323	0	0
MPP7	143098	broad.mit.edu	37	10	28358748	28358748	+	Missense_Mutation	SNP	C	T	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	uc001iua.1	-	14	1561	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R386Q|MPP7_uc009xla.2_Missense_Mutation_p.R386Q|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	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														9			10		0	0	0.008291	0	0
VAX2	25806	broad.mit.edu	37	2	71160159	71160159	+	Missense_Mutation	SNP	C	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.chr2:71160159C>T	uc002shh.3	+	2	730	c.698C>T	c.(697-699)tCc>tTc	p.S233F	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	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														18			8		0	0	0.003080	0	0
VPS39	23339	broad.mit.edu	37	15	42458808	42458808	+	Missense_Mutation	SNP	G	A	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	uc001zpd.3	-	15	1743	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	VPS39_uc001zpc.3_Missense_Mutation_p.S520F|VPS39_uc001zpb.3_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	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														36			18		0	0	0.010504	0	0
RASIP1	54922	broad.mit.edu	37	19	49227675	49227675	+	Silent	SNP	C	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.chr19:49227675C>T	uc002pki.3	-	9	2660	c.2463G>A	c.(2461-2463)ctG>ctA	p.L821L	RASIP1_uc002pkh.3_Silent_p.L82L	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	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														47			25		0	0	0.003330	0	0
KCNK10	54207	broad.mit.edu	37	14	88652025	88652025	+	Missense_Mutation	SNP	C	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.chr14:88652025C>T	uc001xwm.3	-	6	1608	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	KCNK10_uc001xwn.3_Missense_Mutation_p.E496K|KCNK10_uc001xwo.3_Missense_Mutation_p.E491K	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	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														44			28		0	0	0.008361	0	0
ACSF3	197322	broad.mit.edu	37	16	89180872	89180872	+	Missense_Mutation	SNP	T	C	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	uc010cig.2	+	4	1311	c.1103T>C	c.(1102-1104)cTg>cCg	p.L368P	ACSF3_uc010cih.2_Missense_Mutation_p.L103P|ACSF3_uc002fmp.3_Missense_Mutation_p.L368P|ACSF3_uc021tmq.1_Missense_Mutation_p.L368P|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	368					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			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														44			24		0	0	0.006320	0	0
C22orf43	51233	broad.mit.edu	37	22	23968225	23968225	+	Silent	SNP	C	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.chr22:23968225C>T	uc002zxf.3	-	1	517	c.219G>A	c.(217-219)gaG>gaA	p.E73E		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	73										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCAGGCGGTCCTCAGGGGGAC	0.507000														54			29		0	0	0.012213	0	0
CLGN	1047	broad.mit.edu	37	4	141311862	141311862	+	Missense_Mutation	SNP	C	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.chr4:141311862C>T	uc011chi.2	-	14	1890	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	CLGN_uc003iii.3_Missense_Mutation_p.E558K	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	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														32			15		0	0	0.002450	0	0
XRN2	22803	broad.mit.edu	37	20	21369916	21369916	+	Nonsense_Mutation	SNP	T	G	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	uc002wsf.1	+	29	2888	c.2793T>G	c.(2791-2793)taT>taG	p.Y931*	XRN2_uc002wsg.1_Nonsense_Mutation_p.Y855*|XRN2_uc010zsk.1_Nonsense_Mutation_p.Y877*|XRN2_uc002wsh.1_Nonsense_Mutation_p.Y69*	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	931					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|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														37			3		0	0	0.009096	0	0
DCC	1630	broad.mit.edu	37	18	50734082	50734082	+	Missense_Mutation	SNP	G	A	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	uc002lfe.2	+	10	2372	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	DCC_uc010xdr.1_Missense_Mutation_p.E434K|DCC_uc010dpf.2_Missense_Mutation_p.E241K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	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														50			32		0	0	0.010818	0	0
MPP3	4356	broad.mit.edu	37	17	41903166	41903166	+	Silent	SNP	G	A	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	uc002ieh.3	-	6	903	c.642C>T	c.(640-642)atC>atT	p.I214I	MPP3_uc002iei.4_Silent_p.I189I|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Silent_p.I189I|MPP3_uc010wik.2_Silent_p.I214I	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	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														42			12		0	0	0.003163	0	0
ZNF677	342926	broad.mit.edu	37	19	53740523	53740523	+	Missense_Mutation	SNP	G	A	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	uc002qbg.1	-	4	1608	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	ZNF677_uc002qbf.1_Missense_Mutation_p.P486L	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P486H(2)		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														52			27		0	0	0.007291	0	0
SPZ1	84654	broad.mit.edu	37	5	79616732	79616732	+	RNA	SNP	G	A	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	uc011ctk.1	-	0		c.927C>T			SPZ1_uc003kgn.3_Missense_Mutation_p.R233K			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						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														26			15		0	0	0.002450	0	0
TTLL9	164395	broad.mit.edu	37	20	30507728	30507728	+	Nonsense_Mutation	SNP	G	A	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	uc010gdx.1	+	6	819	c.566G>A	c.(565-567)tGg>tAg	p.W189*	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	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														40			50		0	0	0.014410	0	0
GDF3	9573	broad.mit.edu	37	12	7848075	7848075	+	Missense_Mutation	SNP	G	A	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	uc001qte.3	-	0	286	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	84					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.L83V(1)		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														52			27		0	0	0.010818	0	0
AHCTF1	25909	broad.mit.edu	37	1	247007213	247007213	+	Missense_Mutation	SNP	G	A	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	uc001ibv.2	-	33	6533	c.6436C>T	c.(6436-6438)Cct>Tct	p.P2146S	AHCTF1_uc009xgs.1_Missense_Mutation_p.P998S	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	2137	Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|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														20			6		0	0	0.001984	0	0
GPR179	440435	broad.mit.edu	37	17	36498979	36498979	+	Missense_Mutation	SNP	G	A	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	uc002hpz.3	-	0	715	c.694C>T	c.(694-696)Cct>Tct	p.P232S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	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														51			43		0	0	0.006999	0	0
OR4E2	26686	broad.mit.edu	37	14	22133882	22133882	+	Missense_Mutation	SNP	G	A	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	uc010tmd.2	+	0	586	c.586G>A	c.(586-588)Gga>Aga	p.G196R		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	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														45			22		0	0	0.014323	0	0
ADAM23	8745	broad.mit.edu	37	2	207426990	207426990	+	Nonsense_Mutation	SNP	C	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.chr2:207426990C>T	uc002vbq.3	+	12	1541	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	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														160			65		0	0	0.014410	0	0
SPHK2	56848	broad.mit.edu	37	19	49132013	49132013	+	Silent	SNP	G	A	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	uc002pjw.3	+	4	1831	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	SPHK2_uc010xzt.2_Silent_p.L257L|SPHK2_uc002pjt.3_Silent_p.L110L|SPHK2_uc002pjr.3_Silent_p.L316L|SPHK2_uc002pjs.3_Silent_p.L316L|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.L280L	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	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|Ras GTPase binding|diacylglycerol kinase activity|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														56			32		0	0	0.010818	0	0
RBM12B	389677	broad.mit.edu	37	8	94746582	94746582	+	Missense_Mutation	SNP	G	A	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	uc022aye.1	-	0	2057	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	RBM12B_uc003yfz.3_Missense_Mutation_p.P686L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	686							RNA binding|nucleotide 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														42			128		0	0	0.014410	0	0
TPM2	7169	broad.mit.edu	37	9	35685757	35685757	+	Silent	SNP	G	A	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	uc003zxq.3	-	2	500	c.261C>T	c.(259-261)tcC>tcT	p.S87S	TPM2_uc003zxs.3_Silent_p.S87S|TPM2_uc010mkz.3_Silent_p.S87S|TPM2_uc011lpa.2_Silent_p.S87S	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	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														23			40		0	0	0.011902	0	0
ODZ3	55714	broad.mit.edu	37	4	183600827	183600827	+	Silent	SNP	C	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.chr4:183600827C>T	uc003ivd.1	+	6	1410	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	445					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTATGACTTCGTGGAGCTCC	0.532000														45			26		0	0	0.012213	0	0
KIAA1024	23251	broad.mit.edu	37	15	79760663	79760663	+	Silent	SNP	C	T	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	uc002bew.1	+	3	2763	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	KIAA1024_uc010unk.1_3'UTR	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	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														14			7		0	0	0.004482	0	0
QRSL1	55278	broad.mit.edu	37	6	107102635	107102635	+	Missense_Mutation	SNP	G	A	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	uc003prm.3	+	7	996	c.880G>A	c.(880-882)Gta>Ata	p.V294I		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	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														30			24		0	0	0.006320	0	0
BCR	613	broad.mit.edu	37	22	23610670	23610670	+	Nonsense_Mutation	SNP	C	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.chr22:23610670C>T	uc002zww.3	+	4	2424	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*	BCR_uc002zwx.3_Nonsense_Mutation_p.Q610*|BCR_uc011aiy.2_Nonsense_Mutation_p.Q199*|BCR_uc010gtx.1_Intron	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	610	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase 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"""									17			12		0	0	0.002450	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135250247	135250247	+	Missense_Mutation	SNP	G	A	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	uc003qew.3	-	5	1025	c.956C>T	c.(955-957)cCc>cTc	p.P319L	ALDH8A1_uc011ecx.2_Missense_Mutation_p.P269L|ALDH8A1_uc003qex.3_Intron|ALDH8A1_uc010kgh.3_Intron	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	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														40			29		0	0	0.008361	0	0
ENPEP	2028	broad.mit.edu	37	4	111398053	111398053	+	Silent	SNP	C	T	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	uc003iab.4	+	0	825	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	161					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.F161F(2)		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														132			51		0	0	0.014410	0	0
FGL2	10875	broad.mit.edu	37	7	76825931	76825931	+	Missense_Mutation	SNP	G	A	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	uc003ugb.3	-	1	1025	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	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														73			29		0	0	0.006320	0	0
IQCE	23288	broad.mit.edu	37	7	2645531	2645531	+	Missense_Mutation	SNP	C	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.chr7:2645531C>T	uc003sml.1	+	19	1949	c.1765C>T	c.(1765-1767)Ccg>Tcg	p.P589S	IQCE_uc011jvy.1_Missense_Mutation_p.P573S|IQCE_uc011jvz.1_Missense_Mutation_p.P524S|IQCE_uc003smo.4_Missense_Mutation_p.P589S|IQCE_uc003smk.4_Missense_Mutation_p.P573S|IQCE_uc003smn.4_Missense_Mutation_p.P524S	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	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														16			10		0	0	0.013537	0	0
RELA	5970	broad.mit.edu	37	11	65427199	65427199	+	Missense_Mutation	SNP	C	A	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	uc010ron.2	-	5	670	c.530G>T	c.(529-531)cGg>cTg	p.R177L	RELA_uc001off.3_Missense_Mutation_p.R166L|RELA_uc001ofh.3_Missense_Mutation_p.R163L|RELA_uc001ofg.3_Missense_Mutation_p.R166L|RELA_uc021qlq.1_Missense_Mutation_p.R166L|RELA_uc009yqr.3_Missense_Mutation_p.R113L|RELA_uc001ofe.2_Missense_Mutation_p.R166L|RELA_uc009yqs.1_Non-coding_Transcript	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	166	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|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|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 UV-B|response to interleukin-1|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	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase 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														90			4		0.000602214	0.000895095	0.000602	1	0
ACSM2A	123876	broad.mit.edu	37	16	20497934	20497934	+	Silent	SNP	G	A	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	uc010bwe.3	+	14	1907	c.1668G>A	c.(1666-1668)ggG>ggA	p.G556G	ACSM2A_uc002dhf.4_Silent_p.G556G|ACSM2A_uc002dhg.4_Silent_p.G556G|ACSM2A_uc010vay.2_Silent_p.G477G|ACSM2A_uc002dhh.4_Silent_p.G186G|AX747287_uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	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														115			53		0	0	0.014410	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625713	140625713	+	Silent	SNP	G	A	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	uc003lje.3	+	0	567	c.567G>A	c.(565-567)agG>agA	p.R189R		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	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														22			11		0	0	0.013537	0	0
LRRN1	57633	broad.mit.edu	37	3	3886905	3886905	+	Missense_Mutation	SNP	G	A	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	uc003bpt.4	+	1	1341	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E194K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	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														83			41		0	0	0.008740	0	0
SALL1	6299	broad.mit.edu	37	16	51172857	51172857	+	Silent	SNP	G	A	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	uc021tif.1	-	1	3307	c.2985C>T	c.(2983-2985)ttC>ttT	p.F995F	SALL1_uc021tid.1_Silent_p.F995F|SALL1_uc021tie.1_Silent_p.F1092F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R995W(2)|p.R995Q(1)		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														50			22		0	0	0.002780	0	0
LINC00477	144360	broad.mit.edu	37	12	24736579	24736579	+	RNA	SNP	G	A	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	uc001rgb.1	-	0		c.524C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		GGGGGCCCAGGACCCCACAGC	0.547000														56			29		0	0	0.008361	0	0
MITF	4286	broad.mit.edu	37	3	69928368	69928368	+	Missense_Mutation	SNP	T	A	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	uc003dnz.3	+	1	351	c.188T>A	c.(187-189)cTc>cAc	p.L63H	MITF_uc011bgb.2_Missense_Mutation_p.L11H|MITF_uc003doa.3_Missense_Mutation_p.L62H|MITF_uc003dob.3_Missense_Mutation_p.L47H|MITF_uc003doc.1_Non-coding_Transcript	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	63					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			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"""							29			23		0	0	0.003330	0	0
UNC13A	23025	broad.mit.edu	37	19	17743613	17743614	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:17743613_17743614CC>TT	uc021uqk.1	-	27	3444_3445	c.3402_3403GG>AA	c.(3400-3405)aaggac>aaAAac	p.D1135N		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	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						GGCACGCGGTCCTTGAAGGCGG	0.540000														54			27		0	0	0.004672	0	0
GBP2	2634	broad.mit.edu	37	1	89582786	89582786	+	Missense_Mutation	SNP	C	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.chr1:89582786C>T	uc001dmz.1	-	5	1028	c.757G>A	c.(757-759)Gag>Aag	p.E253K	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	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														41			19		0	0	0.008871	0	0
KRT13	3860	broad.mit.edu	37	17	39661430	39661430	+	Silent	SNP	G	A	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	uc002hwu.1	-	0	436	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	KRT13_uc002hwv.1_Silent_p.L125L|KRT13_uc010wfr.2_Silent_p.L18L|KRT13_uc010cxo.3_Silent_p.L125L|KRT13_uc021txk.1_Silent_p.L18L	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	125	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.A124T(1)		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														56			49		0	0	0.014410	0	0
TRMT1	55621	broad.mit.edu	37	19	13227162	13227162	+	Missense_Mutation	SNP	G	A	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	uc002mwj.2	-	0	302	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	NACC1_uc002mwm.3_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.L18F|TRMT1_uc002mwl.3_Missense_Mutation_p.L18F|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	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														41			26		0	0	0.004656	0	0
CYLC1	1538	broad.mit.edu	37	X	83129493	83129493	+	Missense_Mutation	SNP	G	A	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	uc004eei.1	+	3	1798	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	CYLC1_uc004eeh.1_Missense_Mutation_p.E592K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	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														1			13		0	0	0.013537	0	0
YIPF1	54432	broad.mit.edu	37	1	54344370	54344370	+	Missense_Mutation	SNP	G	A	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	uc001cvu.3	-	4	592	c.221C>T	c.(220-222)tCc>tTc	p.S74F	YIPF1_uc001cvv.3_Non-coding_Transcript|YIPF1_uc001cvx.3_Non-coding_Transcript|YIPF1_uc001cvy.3_Non-coding_Transcript	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.	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														40			15		0	0	0.003163	0	0
ZFP82	284406	broad.mit.edu	37	19	36884104	36884104	+	Missense_Mutation	SNP	G	A	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	uc002ody.1	-	4	1373	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	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														53			33		0	0	0.013726	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450652	105450652	+	Silent	SNP	G	A	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	uc022cca.1	+	0	1227	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V	MUM1L1_uc004emg.2_Silent_p.V409V|MUM1L1_uc004emf.2_Silent_p.V409V	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	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														5			9		0	0	0.006214	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26426568	26426568	+	Missense_Mutation	SNP	G	A	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	uc011dkl.1	+	2	553	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		GCCCCTCACAGTGTGGAGGGA	0.597000														49			24		0	0	0.014323	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307076	39307076	+	Missense_Mutation	SNP	C	A	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	uc021wwc.1	-	1	1061	c.1021G>T	c.(1021-1023)Ggg>Tgg	p.G341W	CX3CR1_uc021wwa.1_Missense_Mutation_p.G309W|CX3CR1_uc021wwb.1_Missense_Mutation_p.G309W|CX3CR1_uc003cjl.3_Missense_Mutation_p.G309W|CX3CR1_uc021wwd.1_Missense_Mutation_p.G309W	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	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														73			36		9.62906e-15	1.44702e-14	0.006230	1	0
RASSF2	9770	broad.mit.edu	37	20	4768870	4768870	+	Silent	SNP	C	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.chr20:4768870C>T	uc002wld.3	-	7	738	c.684G>A	c.(682-684)acG>acA	p.T228T	RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Silent_p.T228T	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	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														94			25		0	0	0.012213	0	0
PDE6A	5145	broad.mit.edu	37	5	149286902	149286902	+	Silent	SNP	G	A	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	uc003lrg.4	-	6	1158	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	PDE6A_uc021yfs.1_Silent_p.L265L	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	346	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|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														55			32		0	0	0.012213	0	0
NETO1	81832	broad.mit.edu	37	18	70526090	70526090	+	Missense_Mutation	SNP	C	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.chr18:70526090C>T	uc002lkw.3	-	3	724	c.440G>A	c.(439-441)gGa>gAa	p.G147E	NETO1_uc002lky.2_Missense_Mutation_p.G147E|NETO1_uc002lkz.3_Missense_Mutation_p.G146E	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	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														43			20		0	0	0.012319	0	0
CD84	8832	broad.mit.edu	37	1	160535509	160535509	+	Missense_Mutation	SNP	C	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.chr1:160535509C>T	uc001fwh.4	-	1	152	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	CD84_uc001fwf.4_Missense_Mutation_p.E25K|CD84_uc009wtn.3_Missense_Mutation_p.E25K|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.E25K|CD84_uc001fwj.3_Missense_Mutation_p.E25K|CD84_uc001fwk.3_Missense_Mutation_p.E25K	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	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														16			11		0	0	0.008291	0	0
PARM1	25849	broad.mit.edu	37	4	75937680	75937680	+	Missense_Mutation	SNP	C	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.chr4:75937680C>T	uc003hih.2	+	1	342	c.89C>T	c.(88-90)tCt>tTt	p.S30F		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	30					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TTGTCTGTTTCTCTTCCGACA	0.473000														42			16		0	0	0.006122	0	0
PC	5091	broad.mit.edu	37	11	66638920	66638920	+	Missense_Mutation	SNP	T	C	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	uc001ojn.1	-	3	402	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	PC_uc001ojo.1_Missense_Mutation_p.Y118C|PC_uc001ojp.1_Missense_Mutation_p.Y118C	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	118	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.Y118Y(1)		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														48			62		0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168074745	168074745	+	Missense_Mutation	SNP	G	A	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	uc002udx.3	+	4	882	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	XIRP2_uc010fpn.3_Missense_Mutation_p.E298K|XIRP2_uc010fpo.3_Missense_Mutation_p.E265K|XIRP2_uc002udy.3_Missense_Mutation_p.E90K|XIRP2_uc010fpq.3_Missense_Mutation_p.E43K|XIRP2_uc010fpr.3_Missense_Mutation_p.E43K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	90					actin cytoskeleton organization	cell junction	actin binding	p.D264D(1)		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														61			22		0	0	0.012319	0	0
CDH17	1015	broad.mit.edu	37	8	95201422	95201422	+	Missense_Mutation	SNP	A	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.chr8:95201422A>T	uc003ygh.2	-	2	268	c.143T>A	c.(142-144)aTa>aAa	p.I48K	CDH17_uc011lgo.1_Missense_Mutation_p.I48K|CDH17_uc011lgp.1_Missense_Mutation_p.I48K	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	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														16			45		0	0	0.014410	0	0
C1orf9	51430	broad.mit.edu	37	1	172526543	172526543	+	Silent	SNP	C	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.chr1:172526543C>T	uc001giq.4	+	4	883	c.567C>T	c.(565-567)gtC>gtT	p.V189V	C1orf9_uc010pmm.1_Silent_p.V189V|C1orf9_uc009wwd.3_Silent_p.V152V|C1orf9_uc010pmn.2_Silent_p.V152V|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	189					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		CTTCCTTTGTCAGTCCACCTG	0.433000														79			47		0	0	0.014410	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414355	22414355	+	Missense_Mutation	SNP	G	A	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.chr15:22414355G>A	uc001yuf.3	+	0	894	c.654G>A	c.(652-654)atG>atA	p.M218I	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		AAGCTTCCATGAAAAAGGTGT	0.343000														44			12		0	0	0.001855	0	0
GPR84	53831	broad.mit.edu	37	12	54757371	54757371	+	Missense_Mutation	SNP	C	A	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	uc021qyp.1	-	0	265	c.265G>T	c.(265-267)Ggt>Tgt	p.G89C	GPR84_uc001sfu.3_Missense_Mutation_p.G89C	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	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														21			3		0.004672	0.00691897	0.004672	1	0
ABTB2	25841	broad.mit.edu	37	11	34226129	34226129	+	Missense_Mutation	SNP	G	A	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	uc001mvl.2	-	1	1417	c.992C>T	c.(991-993)tCc>tTc	p.S331F		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	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														16			21		0	0	0.008871	0	0
LCE1C	353133	broad.mit.edu	37	1	152777793	152777793	+	Silent	SNP	G	A	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	uc021ozi.1	-	0	162	c.162C>T	c.(160-162)tcC>tcT	p.S54S	LCE1C_uc001fap.1_Silent_p.S54S	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	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														23			22		0	0	0.004656	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934717	186934717	+	Missense_Mutation	SNP	C	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.chr1:186934717C>T	uc001gsc.3	+	14	1961	c.1756C>T	c.(1756-1758)Ccg>Tcg	p.P586S	PLA2G4A_uc010pos.2_Missense_Mutation_p.P526S	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	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														48			16		0	0	0.006122	0	0
C14orf39	317761	broad.mit.edu	37	14	60903603	60903603	+	Missense_Mutation	SNP	G	A	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	uc001xez.4	-	17	1834	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L	C14orf39_uc010apo.3_Missense_Mutation_p.S286L	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	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														112			49		0	0	0.014410	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409978	19409978	+	RNA	SNP	G	A	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.chr13:19409978G>A	uc010tcj.1	-	0		c.36132C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		cggagagggggatgtggcagg	0.403000														5			6		0	0	0.001168	0	0
PROL1	58503	broad.mit.edu	37	4	71275337	71275337	+	Missense_Mutation	SNP	C	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.chr4:71275337C>T	uc003hfi.3	+	2	466	c.292C>T	c.(292-294)Ctc>Ttc	p.L98F		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	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														102			57		0	0	0.014410	0	0
SPTB	6710	broad.mit.edu	37	14	65260193	65260193	+	Missense_Mutation	SNP	C	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.chr14:65260193C>T	uc001xht.3	-	12	2239	c.2188G>A	c.(2188-2190)Gac>Aac	p.D730N	SPTB_uc001xhr.3_Missense_Mutation_p.D730N|SPTB_uc001xhs.3_Missense_Mutation_p.D730N|SPTB_uc001xhu.3_Missense_Mutation_p.D730N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	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														24			18		0	0	0.012319	0	0
CSMD2	114784	broad.mit.edu	37	1	33985537	33985537	+	Silent	SNP	C	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.chr1:33985537C>T	uc001bxm.1	-	68	10788	c.10611G>A	c.(10609-10611)ctG>ctA	p.L3537L	CSMD2_uc001bxn.1_Silent_p.L3393L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	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														26			7		0	0	0.001984	0	0
ZNF526	116115	broad.mit.edu	37	19	42729578	42729578	+	Silent	SNP	C	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.chr19:42729578C>T	uc002osz.1	+	2	1179	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	ZNF526_uc021uvc.1_Silent_p.F341F	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	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														21			22		0	0	0.014323	0	0
KSR1	8844	broad.mit.edu	37	17	25924400	25924400	+	Missense_Mutation	SNP	C	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.chr17:25924400C>T	uc010crg.3	+	9	1437	c.992C>T	c.(991-993)tCc>tTc	p.S331F	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Missense_Mutation_p.S133F	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	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
HARBI1	283254	broad.mit.edu	37	11	46637536	46637537	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:46637536_46637537GG>AA	uc001ncy.3	-	1	499_500	c.251_252CC>TT	c.(250-252)tcc>tTT	p.S84F	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	84						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GAGTCTGGAAGGAACCTGAGGT	0.520000														93			19		0	0	0.004672	0	0
JPH1	56704	broad.mit.edu	37	8	75227730	75227730	+	Nonsense_Mutation	SNP	C	A	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	uc003yae.3	-	1	545	c.505G>T	c.(505-507)Gag>Tag	p.E169*	JPH1_uc003yaf.3_Nonsense_Mutation_p.E169*|JPH1_uc003yag.1_Nonsense_Mutation_p.E33*	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	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														5			10		0.000978159	0.00145123	0.010729	1	0
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Missense_Mutation	SNP	G	A	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	uc001gkz.3	+	15	5491	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(2)		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														42			18		0	0	0.006122	0	0
PLA2R1	22925	broad.mit.edu	37	2	160824067	160824067	+	Silent	SNP	G	A	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	uc002ube.2	-	19	3099	c.2887C>T	c.(2887-2889)Cta>Tta	p.L963L	PLA2R1_uc010zcp.2_Silent_p.L963L|PLA2R1_uc002ubf.3_Silent_p.L963L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	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														73			41		0	0	0.014410	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292670	4292670	+	Missense_Mutation	SNP	C	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.chr19:4292670C>T	uc002lzx.2	-	4	821	c.775G>A	c.(775-777)Gtc>Atc	p.V259I	TMIGD2_uc021umz.1_Nonsense_Mutation_p.W142*|TMIGD2_uc021una.1_Nonsense_Mutation_p.W90*|TMIGD2_uc010dtv.2_Missense_Mutation_p.V255I	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	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														61			33		0	0	0.009535	0	0
PCDH15	65217	broad.mit.edu	37	10	55973797	55973797	+	Missense_Mutation	SNP	C	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.chr10:55973797C>T	uc010qhy.1	-	10	1407	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	PCDH15_uc010qhq.2_Missense_Mutation_p.D338N|PCDH15_uc010qhr.2_Missense_Mutation_p.D333N|PCDH15_uc021pqv.1_Missense_Mutation_p.D333N|PCDH15_uc021pqw.1_Missense_Mutation_p.D338N|PCDH15_uc010qht.2_Missense_Mutation_p.D333N|PCDH15_uc021pqx.1_Missense_Mutation_p.D333N|PCDH15_uc001jjv.1_Missense_Mutation_p.D311N|PCDH15_uc021pqy.1_Missense_Mutation_p.D333N|PCDH15_uc021pqz.1_Missense_Mutation_p.D311N|PCDH15_uc010qhv.1_Missense_Mutation_p.D333N|PCDH15_uc010qhw.1_Missense_Mutation_p.D296N|PCDH15_uc010qhx.1_Missense_Mutation_p.D333N|PCDH15_uc010qhz.1_Missense_Mutation_p.D333N|PCDH15_uc010qia.1_Missense_Mutation_p.D311N|PCDH15_uc001jju.1_Missense_Mutation_p.D333N|PCDH15_uc010qib.1_Missense_Mutation_p.D311N|PCDH15_uc001jjw.3_Missense_Mutation_p.D333N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	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	p.F337F(1)		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)				14			27		0	0	0.008361	0	0
GPR68	8111	broad.mit.edu	37	14	91701062	91701062	+	Silent	SNP	G	A	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	uc021ryk.1	-	0	333	c.333C>T	c.(331-333)ttC>ttT	p.F111F	GPR68_uc001xzg.3_Silent_p.F111F|GPR68_uc001xzh.3_Silent_p.F111F	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	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														8			6		0	0	0.001168	0	0
RDH16	8608	broad.mit.edu	37	12	57351142	57351142	+	Silent	SNP	C	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.chr12:57351142C>T	uc001smi.4	-	0	277	c.105G>A	c.(103-105)acG>acA	p.T35T	RDH16_uc009zpa.3_5'UTR	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	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														58			29		0	0	0.005443	0	0
PXDNL	137902	broad.mit.edu	37	8	52321172	52321172	+	Silent	SNP	G	A	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	uc003xqu.4	-	16	3113	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	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														1			13		0	0	0.001855	0	0
DPYD	1806	broad.mit.edu	37	1	98187201	98187201	+	Silent	SNP	T	G	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	uc001drv.3	-	4	485	c.348A>C	c.(346-348)atA>atC	p.I116I	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Silent_p.I116I	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	116					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion 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														35			36		0	0	0.004878	0	0
SPTLC3	55304	broad.mit.edu	37	20	13055015	13055015	+	Silent	SNP	C	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.chr20:13055015C>T	uc002wod.1	+	3	766	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	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														57			18		0	0	0.007413	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216343	20216343	+	Missense_Mutation	SNP	G	A	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	uc010tkt.2	+	0	757	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V253M(2)		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														178			28		0	0	0.012213	0	0
LMX1A	4009	broad.mit.edu	37	1	165218664	165218664	+	Silent	SNP	G	A	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	uc001gcz.2	-	3	671	c.477C>T	c.(475-477)agC>agT	p.S159S	LMX1A_uc021pdz.1_Silent_p.S159S	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	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														22			16		0	0	0.004990	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501978	140501978	+	Missense_Mutation	SNP	C	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.chr5:140501978C>T	uc003lip.1	+	0	398	c.398C>T	c.(397-399)cCt>cTt	p.P133L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	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														32			12		0	0	0.013537	0	0
ZFP30	22835	broad.mit.edu	37	19	38127133	38127133	+	Nonsense_Mutation	SNP	C	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.chr19:38127133C>T	uc002ogv.1	-	5	825	c.309G>A	c.(307-309)tgG>tgA	p.W103*	ZFP30_uc002ogw.1_Nonsense_Mutation_p.W103*|ZFP30_uc002ogx.1_Nonsense_Mutation_p.W103*|ZFP30_uc010xtt.1_Nonsense_Mutation_p.W102*	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	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														38			15		0	0	0.002450	0	0
TGM1	7051	broad.mit.edu	37	14	24724283	24724283	+	Missense_Mutation	SNP	G	A	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	uc001wod.3	-	11	1946	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C	TGM1_uc010tog.2_Missense_Mutation_p.R166C	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	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														39			17		0	0	0.004990	0	0
CCR3	1232	broad.mit.edu	37	3	46306885	46306885	+	Missense_Mutation	SNP	C	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.chr3:46306885C>T	uc003cpl.2	+	2	1366	c.335C>T	c.(334-336)tCg>tTg	p.S112L	CCR3_uc003cpg.2_Missense_Mutation_p.S79L|CCR3_uc003cpk.2_Missense_Mutation_p.S100L|CCR3_uc003cpi.2_Missense_Mutation_p.S79L|CCR3_uc010hjb.2_Missense_Mutation_p.S97L|CCR3_uc003cpj.2_Missense_Mutation_p.S79L|CCR3_uc021wwz.1_Missense_Mutation_p.S79L	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	79					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|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														85			38		0	0	0.006230	0	0
CERCAM	51148	broad.mit.edu	37	9	131198142	131198142	+	Silent	SNP	C	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.chr9:131198142C>T	uc004buz.4	+	11	2144	c.1746C>T	c.(1744-1746)agC>agT	p.S582S	CERCAM_uc004buy.1_Silent_p.S504S|CERCAM_uc010mxz.3_Silent_p.S504S	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	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														13			4		0	0	0.000602	0	0
OR2M2	391194	broad.mit.edu	37	1	248343371	248343371	+	Silent	SNP	C	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.chr1:248343371C>T	uc010pzf.2	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28L(2)		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														146			78		0	0	0.014410	0	0
MYO5B	4645	broad.mit.edu	37	18	47421481	47421481	+	Missense_Mutation	SNP	C	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.chr18:47421481C>T	uc002leb.2	-	21	3163	c.2875G>A	c.(2875-2877)Gta>Ata	p.V959I	MYO5B_uc002lea.2_Missense_Mutation_p.V100I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	959					protein transport	myosin complex	ATP binding|actin 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														55			24		0	0	0.004656	0	0
CYP2S1	29785	broad.mit.edu	37	19	41707228	41707228	+	Silent	SNP	C	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.chr19:41707228C>T	uc002opw.3	+	5	982	c.927C>T	c.(925-927)acC>acT	p.T309T	CYP2S1_uc010xvx.2_Silent_p.T34T	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	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														87			40		0	0	0.014410	0	0
TMEM35	59353	broad.mit.edu	37	X	100349606	100349606	+	Silent	SNP	G	A	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	uc004egw.3	+	1	321	c.165G>A	c.(163-165)aaG>aaA	p.K55K		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	Homo sapiens transmembrane protein 35 (TMEM35), mRNA.	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														11			47		0	0	0.014410	0	0
C2orf28	51374	broad.mit.edu	37	2	27439735	27439735	+	Silent	SNP	C	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.chr2:27439735C>T	uc002rjf.3	+	6	947	c.774C>T	c.(772-774)ttC>ttT	p.F258F	C2orf28_uc002rjg.3_Silent_p.F145F|CAD_uc002rji.3_5'Flank|CAD_uc010eyw.3_5'Flank	NM_001170795	NP_001164266	Q6UW56	APR3_HUMAN	Homo sapiens chromosome 2 open reading frame 28 (C2orf28), transcript variant 3, mRNA.	203						integral to membrane|plasma membrane				large_intestine(2)|lung(2)|skin(2)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTATGTTCTTCGGGATTC	0.498000														63			58		0	0	0.014410	0	0
OR2T34	127068	broad.mit.edu	37	1	248738036	248738036	+	Missense_Mutation	SNP	G	A	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	uc001iep.1	-	0	23	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	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														51			18		0	0	0.002780	0	0
abParts	0	broad.mit.edu	37	14	107131067	107131067	+	RNA	SNP	C	G	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	uc021ser.1	-	78		c.3811G>C								Parts of antibodies, mostly variable regions.																		GTCCTCAGCTCTCAGGCTGTT	0.537000														146			7		0	0	0.013537	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29758914	29758914	+	Missense_Mutation	SNP	G	A	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.chr17:29758914G>A	uc002hgn.1	+	1	472	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	81	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGTTCGCCATGAAAGGTGAGG	0.582000														57			17		0	0	0.004007	0	0
NLRC3	197358	broad.mit.edu	37	16	3607670	3607670	+	Missense_Mutation	SNP	C	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.chr16:3607670C>T	uc010btn.3	-	6	2434	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	NLRC3_uc010bto.1_5'Flank	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	675					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	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														15			3		0	0	0.009096	0	0
UBA2	10054	broad.mit.edu	37	19	34921554	34921554	+	Nonsense_Mutation	SNP	C	G	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	uc002nvk.3	+	1	282	c.212C>G	c.(211-213)tCa>tGa	p.S71*	UBA2_uc010xrx.1_Intron|UBA2_uc002nvl.3_5'UTR	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	71					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization 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														81			6		0	0	0.001984	0	0
REG3A	5068	broad.mit.edu	37	2	79384759	79384759	+	Nonsense_Mutation	SNP	C	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.chr2:79384759C>T	uc002sod.2	-	3	747	c.399G>A	c.(397-399)tgG>tgA	p.W133*	REG3A_uc002soe.2_Nonsense_Mutation_p.W133*|REG3A_uc002sof.2_Nonsense_Mutation_p.W133*	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	133	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.W133L(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GATTTCTCTCCCATGCAAAGT	0.537000														65			33		0	0	0.003271	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387372	56387372	+	Nonsense_Mutation	SNP	G	A	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	uc002ivx.4	-	20	4718	c.3847C>T	c.(3847-3849)Cag>Tag	p.Q1283*	BZRAP1_uc010dcs.3_Nonsense_Mutation_p.Q1223*|BZRAP1_uc010wnt.2_Nonsense_Mutation_p.Q1283*	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	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														36			41		0	0	0.011902	0	0
CHIT1	1118	broad.mit.edu	37	1	203188413	203188413	+	Silent	SNP	C	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.chr1:203188413C>T	uc001gzn.2	-	8	1056	c.960G>A	c.(958-960)caG>caA	p.Q320Q	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Silent_p.Q111Q|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.Q311Q	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	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														76			50		0	0	0.014410	0	0
SSTR2	6752	broad.mit.edu	37	17	71165665	71165665	+	Silent	SNP	C	A	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	uc002jje.3	+	1	567	c.207C>A	c.(205-207)ctC>ctA	p.L69L	SSTR2_uc021ucm.1_Silent_p.L69L	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	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														74			54		2.14255e-21	3.23763e-21	0.014410	1	0
COL3A1	1281	broad.mit.edu	37	2	189855743	189855743	+	Missense_Mutation	SNP	G	A	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	uc002uqj.1	+	10	929	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	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(2)		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														83			79		0	0	0.014410	0	0
FAM70B	348013	broad.mit.edu	37	13	114472093	114472093	+	Missense_Mutation	SNP	G	A	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	uc001vuh.3	+	2	239	c.212G>A	c.(211-213)gGa>gAa	p.G71E		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	71						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			TCTTTCTTAGGAATTATTGGC	0.433000														96			11		0	0	0.013537	0	0
THRB	7068	broad.mit.edu	37	3	24164556	24164556	+	Missense_Mutation	SNP	G	A	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	uc003ccz.4	-	11	1725	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	THRB_uc010hfe.3_Missense_Mutation_p.A402V|THRB_uc003ccy.4_Missense_Mutation_p.A402V|THRB_uc003ccx.4_Missense_Mutation_p.A402V	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	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														88			46		0	0	0.011902	0	0
PRSS37	136242	broad.mit.edu	37	7	141536273	141536273	+	Silent	SNP	G	A	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	uc003vws.2	-	4	1002	c.630C>T	c.(628-630)ttC>ttT	p.F210F	PRSS37_uc011krl.2_Silent_p.F209F|PRSS37_uc011krk.2_Silent_p.F197F|PRSS37_uc003vwt.2_Silent_p.F197F	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	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														43			20		0	0	0.010504	0	0
SORCS2	57537	broad.mit.edu	37	4	7705054	7705054	+	Silent	SNP	G	A	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	uc003gkb.4	+	12	1716	c.1716G>A	c.(1714-1716)gtG>gtA	p.V572V	SORCS2_uc011bwi.2_Silent_p.V400V	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	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														11			8		0	0	0.006214	0	0
ABCA12	26154	broad.mit.edu	37	2	215901740	215901740	+	Missense_Mutation	SNP	C	A	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	uc002vew.3	-	7	1142	c.922G>T	c.(922-924)Ggt>Tgt	p.G308C	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	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														55			46		1.83081e-24	2.77169e-24	0.014410	1	0
MUC3A	4584	broad.mit.edu	37	7	100607746	100607746	+	Splice_Site	SNP	G	A	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	uc003uxl.1	+	5	2393	c.1593_splice	c.e5-1	p.R531_splice	MUC3A_uc003uxk.1_Splice_Site|AK096803_uc003uxm.1_Intron|AK096803_uc003uxn.1_Intron|MUC3A_uc010lhn.1_5'Flank					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GACCCCTCAGGAATGGCAGCA	0.597000														99			19		0	0	0.003330	0	0
TMC3	342125	broad.mit.edu	37	15	81650588	81650588	+	Silent	SNP	C	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.chr15:81650588C>T	uc021ssk.1	-	6	645	c.645G>A	c.(643-645)agG>agA	p.R215R	TMC3_uc021ssj.1_Silent_p.R215R|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.R215R	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	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														59			28		0	0	0.007291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110497275	110497275	+	Missense_Mutation	SNP	G	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.chr8:110497275G>T	uc003yne.3	+	57	9683	c.9579G>T	c.(9577-9579)gaG>gaT	p.E3193D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	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)				10			34		1.21669e-08	1.81503e-08	0.003271	1	0
GFOD2	81577	broad.mit.edu	37	16	67709904	67709904	+	Silent	SNP	G	A	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	uc002eub.3	-	2	607	c.312C>T	c.(310-312)ttC>ttT	p.F104F	GFOD2_uc002euc.3_5'UTR|GFOD2_uc002eua.1_Non-coding_Transcript	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.	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														24			12		0	0	0.013537	0	0
THSD7B	80731	broad.mit.edu	37	2	138375985	138375985	+	Missense_Mutation	SNP	G	A	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	uc002tva.1	+	17	3499	c.3499G>A	c.(3499-3501)Gaa>Aaa	p.E1167K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1166M(1)		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														28			16		0	0	0.004990	0	0
NHP2	55651	broad.mit.edu	37	5	177580796	177580796	+	Missense_Mutation	SNP	G	A	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	uc003mir.2	-	0	166	c.23C>T	c.(22-24)cCc>cTc	p.P8L	NHP2_uc003mis.2_Missense_Mutation_p.P8L	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	Homo sapiens NHP2 ribonucleoprotein homolog (yeast) (NHP2), transcript variant 1, mRNA.	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														9			4		0	0	0.001984	0	0
VSX1	30813	broad.mit.edu	37	20	25057171	25057171	+	Missense_Mutation	SNP	G	A	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	uc002wuf.3	-	4	859	c.824C>T	c.(823-825)tCc>tTc	p.S275F	VSX1_uc002wue.3_Intron|VSX1_uc010gdd.2_Intron|VSX1_uc010gde.2_Intron|VSX1_uc010gdf.2_Intron	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	Homo sapiens visual system homeobox 1 (VSX1), transcript variant 1, mRNA.	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														54			67		0	0	0.014410	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33596548	33596548	+	Missense_Mutation	SNP	C	A	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	uc002xbk.3	-	12	1548	c.1514G>T	c.(1513-1515)aGt>aTt	p.S505I	TRPC4AP_uc002xbj.3_5'Flank|TRPC4AP_uc010zuq.2_Missense_Mutation_p.S96I|TRPC4AP_uc010zur.2_Missense_Mutation_p.S466I|TRPC4AP_uc002xbl.3_Missense_Mutation_p.S497I|TRPC4AP_uc002xbm.1_Missense_Mutation_p.S505I	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	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														112			28		5.45727e-16	8.21611e-16	0.008361	1	0
PRRC2A	7916	broad.mit.edu	37	6	31594881	31594881	+	Missense_Mutation	SNP	C	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.chr6:31594881C>T	uc003nvb.4	+	10	1445	c.1196C>T	c.(1195-1197)cCa>cTa	p.P399L	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.P399L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	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														31			16		0	0	0.004007	0	0
SULT2B1	6820	broad.mit.edu	37	19	49100031	49100031	+	Silent	SNP	C	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.chr19:49100031C>T	uc002pjl.3	+	5	762	c.681C>T	c.(679-681)ttC>ttT	p.F227F	SULT2B1_uc002pjm.3_Silent_p.F212F	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	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														20			4		0	0	0.000602	0	0
PDE10A	10846	broad.mit.edu	37	6	165809885	165809885	+	Missense_Mutation	SNP	G	A	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	uc003qun.3	-	14	1557	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.H368Y|PDE10A_uc003quo.3_Missense_Mutation_p.H448Y	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	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														78			64		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181759	140181759	+	Missense_Mutation	SNP	G	A	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	uc003lhf.2	+	0	977	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G326E	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	341	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G326E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATAAAGGAAATCCCCCA	0.378000														39			19		0	0	0.010504	0	0
CHP2	63928	broad.mit.edu	37	16	23767468	23767468	+	Silent	SNP	C	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.chr16:23767468C>T	uc002dmb.1	+	3	729	c.306C>T	c.(304-306)gaC>gaT	p.D102D		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	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														20			18		0	0	0.008871	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98831371	98831371	+	Missense_Mutation	SNP	C	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.chr8:98831371C>T	uc003yia.3	+	4	841	c.685C>T	c.(685-687)Cct>Tct	p.P229S	LAPTM4B_uc010mbg.3_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	282					transport	endomembrane system|integral to membrane	protein binding	p.P228P(1)		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														21			79		0	0	0.014410	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131075	38131075	+	Missense_Mutation	SNP	C	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.chr22:38131075C>T	uc003atr.3	+	8	5003	c.4732C>T	c.(4732-4734)Ccc>Tcc	p.P1578S	TRIOBP_uc003atu.3_Missense_Mutation_p.P1406S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1578					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin 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)		38			25		0	0	0.004656	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138581	126138581	+	Missense_Mutation	SNP	G	A	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	uc001uhe.1	+	8	2570	c.2562G>A	c.(2560-2562)atG>atA	p.M854I	TMEM132B_uc001uhf.1_Missense_Mutation_p.M366I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	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														32			15		0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82544898	82544898	+	Missense_Mutation	SNP	C	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.chr7:82544898C>T	uc003uhx.2	-	6	12693	c.12404G>A	c.(12403-12405)gGg>gAg	p.G4135E	PCLO_uc003uhv.2_Missense_Mutation_p.G4135E|PCLO_uc010lec.3_Missense_Mutation_p.G1100E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4066					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G4135L(3)		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														63			27		0	0	0.007291	0	0
PTGER3	5733	broad.mit.edu	37	1	71478162	71478162	+	Missense_Mutation	SNP	C	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.chr1:71478162C>T	uc001dfn.3	-	1	1134	c.903G>A	c.(901-903)atG>atA	p.M301I	PTGER3_uc001dfg.1_Missense_Mutation_p.M301I|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfk.1_Missense_Mutation_p.M301I|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.M301I|PTGER3_uc009wbm.1_Missense_Mutation_p.M301I|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.2_Missense_Mutation_p.M301I|PTGER3_uc009wbo.3_Missense_Mutation_p.M301I|PTGER3_uc001dfo.3_Missense_Mutation_p.M301I|PTGER3_uc001dfp.1_Missense_Mutation_p.M301I|PTGER3_uc001dfq.3_Missense_Mutation_p.M301I	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	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														23			10		0	0	0.008291	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136262	220136262	+	Silent	SNP	G	A	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	uc002vkv.1	+	3	732	c.567G>A	c.(565-567)gtG>gtA	p.V189V	TUBA4B_uc002vku.3_Non-coding_Transcript					Homo sapiens tubulin, alpha 4b (pseudogene) (TUBA4B), non-coding RNA.																		CCCTCAATGTGGACCTGACAG	0.537000														35			18		0	0	0.007413	0	0
ARL16	339231	broad.mit.edu	37	17	79650840	79650840	+	Missense_Mutation	SNP	C	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.chr17:79650840C>T	uc002kbf.3	-	0	115	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	6							GTP binding	p.G6R(2)		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														18			14		0	0	0.004007	0	0
CNTN3	5067	broad.mit.edu	37	3	74334608	74334608	+	Missense_Mutation	SNP	G	A	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	uc003dpm.1	-	18	2632	c.2552C>T	c.(2551-2553)tCa>tTa	p.S851L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	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														81			50		0	0	0.014410	0	0
DCHS2	54798	broad.mit.edu	37	4	155156834	155156834	+	Silent	SNP	G	A	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	uc003inw.2	-	24	7605	c.7605C>T	c.(7603-7605)ttC>ttT	p.F2535F		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2535					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F2535F(2)|p.F2535C(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														26			8		0	0	0.004482	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089084	220089084	+	Missense_Mutation	SNP	C	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.chr1:220089084C>T	uc001hlw.3	-	3	1376	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.E144K|SLC30A10_uc001hlx.3_Missense_Mutation_p.E164K	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	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														74			32		0	0	0.010818	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366635	40366635	+	Silent	SNP	G	A	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	uc002rrx.3	-	8	2475	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.F812F|SLC8A1_uc002rsb.2_Silent_p.F809F|SLC8A1_uc002rrz.3_Silent_p.F804F|SLC8A1_uc002rsa.3_Silent_p.F781F|SLC8A1_uc002rsd.4_Silent_p.F781F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	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														49			12		0	0	0.001855	0	0
MIA2	117153	broad.mit.edu	37	14	39722039	39722039	+	Missense_Mutation	SNP	C	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.chr14:39722039C>T	uc001wux.3	+	4	1849	c.1655C>T	c.(1654-1656)tCg>tTg	p.S552L		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	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														52			25		0	0	0.004656	0	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	C	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.chr12:57485457T>C	uc001smz.3	+	1	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(6)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711000														39			5		0	0	0.004482	0	0
KBTBD5	131377	broad.mit.edu	37	3	42732418	42732418	+	Missense_Mutation	SNP	C	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.chr3:42732418C>T	uc003clv.1	+	4	1775	c.1675C>T	c.(1675-1677)Ctc>Ttc	p.L559F		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	559										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGTGGGTACCCTCTATGCCAT	0.602000														26			19		0	0	0.006122	0	0
EPN1	29924	broad.mit.edu	37	19	56203261	56203261	+	Missense_Mutation	SNP	C	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.chr19:56203261C>T	uc002qlw.3	+	6	1246	c.904C>T	c.(904-906)Cct>Tct	p.P302S	EPN1_uc002qlv.3_Missense_Mutation_p.P277S|EPN1_uc010etd.3_Missense_Mutation_p.P302S|EPN1_uc002qlx.3_Missense_Mutation_p.P388S	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	302	8 X 3 AA repeats of [ED]-P-W.|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														15			6		0	0	0.001984	0	0
CHL1	10752	broad.mit.edu	37	3	447335	447335	+	Missense_Mutation	SNP	G	A	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	uc003bot.3	+	27	4258	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K	CHL1_uc003bou.3_Missense_Mutation_p.E1190K|CHL1_uc011asi.2_Missense_Mutation_p.E1153K	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	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														34			15		0	0	0.004990	0	0
CD53	963	broad.mit.edu	37	1	111441773	111441773	+	Silent	SNP	C	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.chr1:111441773C>T	uc001dzw.3	+	8	787	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	CD53_uc001dzx.3_Silent_p.L206L|CD53_uc010owa.2_Silent_p.L147L	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	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
MYH9	4627	broad.mit.edu	37	22	36685152	36685153	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:36685152_36685153GG>AA	uc003apg.3	-	31	4766_4767	c.4535_4536CC>TT	c.(4534-4536)tcc>tTT	p.S1512F		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	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	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|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						CATCATCCTTGGAGCTCATAAG	0.629000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					21			10		0	0	0.004672	0	0
KIAA0101	9768	broad.mit.edu	37	15	64673543	64673543	+	Missense_Mutation	SNP	G	A	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	uc002ank.3	-	0	160	c.28C>T	c.(28-30)Cca>Tca	p.P10S	KIAA0101_uc002anl.3_Missense_Mutation_p.P10S	NM_014736	NP_055551	Q15004	PAF_HUMAN	Homo sapiens KIAA0101 (KIAA0101), transcript variant 1, mRNA.	10						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						TAAGTGCCTGGAACACTGTCT	0.597000														129			62		0	0	0.014410	0	0
OAS2	4939	broad.mit.edu	37	12	113425019	113425019	+	Silent	SNP	C	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.chr12:113425019C>T	uc001tuj.3	+	1	494	c.354C>T	c.(352-354)ttC>ttT	p.F118F	OAS2_uc001tuh.3_Silent_p.F118F|OAS2_uc001tui.1_Silent_p.F118F	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	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|RNA binding|nucleotidyltransferase activity			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														38			18		0	0	0.008871	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134464268	134464268	+	Silent	SNP	G	A	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	uc022bos.1	-	16	2628	c.2469C>T	c.(2467-2469)atC>atT	p.I823I	RAPGEF1_uc022bot.1_Silent_p.I805I	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	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	SH3 domain binding|guanyl-nucleotide exchange factor activity			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														18			22		0	0	0.002780	0	0
APOL3	80833	broad.mit.edu	37	22	36537577	36537577	+	Missense_Mutation	SNP	C	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.chr22:36537577C>T	uc003aot.3	-	2	918	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	APOL3_uc003aoq.3_Missense_Mutation_p.E223K|APOL3_uc003aor.3_Missense_Mutation_p.E223K|APOL3_uc003aos.3_Missense_Mutation_p.E223K|APOL3_uc003aou.3_Missense_Mutation_p.E94K|APOL3_uc003aov.3_Missense_Mutation_p.E94K|APOL3_uc021wol.1_Missense_Mutation_p.E94K	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	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														49			22		0	0	0.014323	0	0
NCOR2	9612	broad.mit.edu	37	12	124831171	124831171	+	Missense_Mutation	SNP	A	G	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	uc021rga.1	-	30	4436	c.4319T>C	c.(4318-4320)cTg>cCg	p.L1440P	NCOR2_uc021rgb.1_Missense_Mutation_p.L1424P|NCOR2_uc010tbb.2_Missense_Mutation_p.L1433P|NCOR2_uc010tbc.2_Missense_Mutation_p.L1423P|NCOR2_uc021rgc.1_Missense_Mutation_p.L1423P|NCOR2_uc010tba.2_Missense_Mutation_p.L1441P|NCOR2_uc001ugj.1_Missense_Mutation_p.L1441P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	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|Notch binding|histone deacetylase 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														19			10		0	0	0.008291	0	0
DBF4B	80174	broad.mit.edu	37	17	42828618	42828618	+	Silent	SNP	T	C	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	uc002ihf.3	+	13	2058	c.1845T>C	c.(1843-1845)ggT>ggC	p.G615G	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	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														32			29		0	0	0.006320	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447565	110447565	+	Missense_Mutation	SNP	G	A	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	uc003yne.3	+	28	3591	c.3487G>A	c.(3487-3489)Gat>Aat	p.D1163N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	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)				56			222		0	0	0.014410	0	0
METTL16	79066	broad.mit.edu	37	17	2323843	2323843	+	Silent	SNP	G	A	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	uc002fut.3	-	9	1258	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Silent_p.F152F	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	370							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TGGCCGTTAGGAAAAGGCTGA	0.468000														61			32		0	0	0.013726	0	0
DMBT1	1755	broad.mit.edu	37	10	124402843	124402843	+	Missense_Mutation	SNP	G	A	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	uc001lgk.1	+	52	7277	c.7171G>A	c.(7171-7173)Gaa>Aaa	p.E2391K	DMBT1_uc001lgl.1_Missense_Mutation_p.E2381K|DMBT1_uc001lgm.1_Missense_Mutation_p.E1763K|DMBT1_uc021qaf.1_Missense_Mutation_p.E2391K|DMBT1_uc021qag.1_Missense_Mutation_p.E2381K|DMBT1_uc021qah.1_Missense_Mutation_p.E1763K|DMBT1_uc009xzz.1_Missense_Mutation_p.E2390K|DMBT1_uc010qtx.1_Missense_Mutation_p.E1111K|DMBT1_uc009yab.1_Missense_Mutation_p.E1094K|DMBT1_uc009yac.1_Missense_Mutation_p.E685K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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														11			39		0	0	0.004878	0	0
ATP2A3	489	broad.mit.edu	37	17	3844928	3844928	+	Silent	SNP	G	A	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	uc002fwy.2	-	12	1739	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	ATP2A3_uc002fwz.2_Silent_p.I522I|ATP2A3_uc002fxa.2_Silent_p.I522I|ATP2A3_uc002fxb.2_Silent_p.I522I|ATP2A3_uc002fxc.2_Silent_p.I522I|ATP2A3_uc002fxd.2_Silent_p.I522I|ATP2A3_uc002fwx.2_Silent_p.I522I	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	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														29			19		0	0	0.006122	0	0
TMEM241	85019	broad.mit.edu	37	18	20936574	20936574	+	Missense_Mutation	SNP	C	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.chr18:20936574C>T	uc002kuf.3	-	11	764	c.655G>A	c.(655-657)Ggt>Agt	p.G219S	TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	Homo sapiens transmembrane protein 241 (TMEM241), mRNA.	219						integral to membrane											CAGCAGCTACCATGGAATCTG	0.502000														31			12		0	0	0.002450	0	0
AXL	558	broad.mit.edu	37	19	41748886	41748886	+	Missense_Mutation	SNP	C	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.chr19:41748886C>T	uc010ehj.3	+	10	1601	c.1411C>T	c.(1411-1413)Ctt>Ttt	p.L471F	AXL_uc010ehi.1_Missense_Mutation_p.L471F|AXL_uc010ehk.3_Missense_Mutation_p.L462F|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	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														40			20		0	0	0.007413	0	0
TRPV5	56302	broad.mit.edu	37	7	142612720	142612720	+	Missense_Mutation	SNP	C	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.chr7:142612720C>T	uc003wby.1	-	8	1405	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	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														20			6		0	0	0.001984	0	0
GALNT8	26290	broad.mit.edu	37	12	4835880	4835880	+	Missense_Mutation	SNP	C	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.chr12:4835880C>T	uc001qne.1	+	1	486	c.394C>T	c.(394-396)Ctt>Ttt	p.L132F		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	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
FGFR2	2263	broad.mit.edu	37	10	123298174	123298174	+	Missense_Mutation	SNP	C	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.chr10:123298174C>T	uc021pzz.1	-	5	1327	c.680G>A	c.(679-681)gGa>gAa	p.G227E	FGFR2_uc021pzv.1_Missense_Mutation_p.G227E|FGFR2_uc021pzw.1_Missense_Mutation_p.G112E|FGFR2_uc021pzx.1_Missense_Mutation_p.G138E|FGFR2_uc021pzy.1_Missense_Mutation_p.G227E|FGFR2_uc010qtl.2_Missense_Mutation_p.G227E|FGFR2_uc010qtm.2_Missense_Mutation_p.G112E|FGFR2_uc021qaa.1_Missense_Mutation_p.G227E|FGFR2_uc021qab.1_Missense_Mutation_p.G138E|FGFR2_uc021qac.1_Missense_Mutation_p.G157E|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.G246E|FGFR2_uc010qto.2_Missense_Mutation_p.G131E|FGFR2_uc001lfo.1_Missense_Mutation_p.G246E|FGFR2_uc010qtp.2_Missense_Mutation_p.G246E|FGFR2_uc010qtq.2_Missense_Mutation_p.G246E	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	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 ERK1 and ERK2 cascade|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 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(2)		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					14			33		0	0	0.010818	0	0
FZD9	8326	broad.mit.edu	37	7	72849830	72849830	+	Missense_Mutation	SNP	C	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.chr7:72849830C>T	uc003tyb.3	+	0	1722	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	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|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity			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														13			15		0	0	0.002450	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209985	65209985	+	Missense_Mutation	SNP	C	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.chr14:65209985C>T	uc001xhp.2	+	16	3626	c.3587C>T	c.(3586-3588)cCc>cTc	p.P1196L	PLEKHG3_uc001xhn.1_Missense_Mutation_p.P1019L|PLEKHG3_uc001xho.1_Missense_Mutation_p.P1075L|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P617L|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P580L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	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														20			10		0	0	0.006214	0	0
SCN2A	6326	broad.mit.edu	37	2	166168556	166168556	+	Missense_Mutation	SNP	G	A	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	uc002udc.3	+	7	1282	c.992G>A	c.(991-993)gGg>gAg	p.G331E	SCN2A_uc002udd.3_Missense_Mutation_p.G331E|SCN2A_uc002ude.3_Missense_Mutation_p.G331E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	331					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G331W(1)		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														21			10		0	0	0.008291	0	0
PGBD1	84547	broad.mit.edu	37	6	28268586	28268586	+	Missense_Mutation	SNP	C	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.chr6:28268586C>T	uc003nky.3	+	6	1375	c.955C>T	c.(955-957)Cca>Tca	p.P319S	PGBD1_uc003nkz.3_Missense_Mutation_p.P319S	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	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														52			26		0	0	0.007291	0	0
HHLA2	11148	broad.mit.edu	37	3	108072514	108072514	+	Missense_Mutation	SNP	G	A	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	uc003dwz.3	+	3	719	c.305G>A	c.(304-306)gGg>gAg	p.G102E	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.G102E|HHLA2_uc003dwy.4_Missense_Mutation_p.G102E	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATTCAAAATGGGAATGCGTCG	0.398000														31			15		0	0	0.002450	0	0
SAMD15	161394	broad.mit.edu	37	14	77845406	77845406	+	Missense_Mutation	SNP	G	A	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	uc001xtq.1	+	0	1645	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.E549K	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	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														29			17		0	0	0.004007	0	0
WDR49	151790	broad.mit.edu	37	3	167254669	167254669	+	Missense_Mutation	SNP	G	A	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	uc003fev.1	-	6	1191	c.887C>T	c.(886-888)aCt>aTt	p.T296I	WDR49_uc003feu.1_Missense_Mutation_p.T121I|WDR49_uc011bpd.1_Missense_Mutation_p.T360I|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	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														24			14		0	0	0.002450	0	0
SEC13	6396	broad.mit.edu	37	3	10353760	10353760	+	Silent	SNP	G	A	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	uc003bvn.3	-	4	461	c.339C>T	c.(337-339)ccC>ccT	p.P113P	SEC13_uc003bvl.3_Silent_p.P45P|SEC13_uc003bvm.3_Silent_p.P99P|SEC13_uc003bvp.3_Silent_p.P116P|SEC13_uc003bvo.3_Silent_p.P159P|SEC13_uc003bvr.1_Silent_p.P99P|SEC13_uc011aul.2_Silent_p.P113P	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	113					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CGTAGTCATGGGGGGCCCAGC	0.602000														7			6		0	0	0.001168	0	0
GPR61	83873	broad.mit.edu	37	1	110086536	110086536	+	Missense_Mutation	SNP	C	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.chr1:110086536C>T	uc021orh.1	+	0	892	c.892C>T	c.(892-894)Ctc>Ttc	p.L298F	GPR61_uc001dxy.2_Missense_Mutation_p.L298F	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	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														54			27		0	0	0.006320	0	0
TPD52L2	7165	broad.mit.edu	37	20	62520563	62520563	+	Missense_Mutation	SNP	C	T	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	uc002ygy.3	+	7	704	c.566C>T	c.(565-567)tCg>tTg	p.S189L	TPD52L2_uc021wgf.1_Missense_Mutation_p.S112L|TPD52L2_uc021wgg.1_Intron|TPD52L2_uc011abk.2_Missense_Mutation_p.S117L|TPD52L2_uc002ygz.3_Missense_Mutation_p.S180L|TPD52L2_uc002yha.3_Missense_Mutation_p.S169L|TPD52L2_uc002yhb.3_Missense_Mutation_p.S160L|TPD52L2_uc011abl.2_Missense_Mutation_p.S123L|TPD52L2_uc002yhc.3_Missense_Mutation_p.S166L|TPD52L2_uc002yhd.3_Missense_Mutation_p.S146L|TPD52L2_uc021wgh.1_3'UTR|TPD52L2_uc021wgi.1_Missense_Mutation_p.S141L	NM_199360	NP_955392	O43399	TPD54_HUMAN	Homo sapiens tumor protein D52-like 2 (TPD52L2), transcript variant 1, mRNA.	166					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	p.S189L(4)		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														14			31		0	0	0.004289	0	0
C1orf141	400757	broad.mit.edu	37	1	67581048	67581048	+	Silent	SNP	T	C	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	uc001ddl.1	-	3	444	c.333A>G	c.(331-333)gaA>gaG	p.E111E	C1orf141_uc001ddm.1_Silent_p.E111E|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	111										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTGACTCACTTTCTTTATTTT	0.289000														10			4		0	0	0.001168	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912910	94912910	+	Silent	SNP	C	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.chr14:94912910C>T	uc001ydd.1	-	2	735	c.675G>A	c.(673-675)caG>caA	p.Q225Q		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	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														86			47		0	0	0.014410	0	0
EPHA10	284656	broad.mit.edu	37	1	38197177	38197177	+	Silent	SNP	G	A	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	uc009vvi.3	-	6	1655	c.1569C>T	c.(1567-1569)acC>acT	p.T523T	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	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														88			48		0	0	0.014410	0	0
DST	667	broad.mit.edu	37	6	56500494	56500494	+	Missense_Mutation	SNP	C	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.chr6:56500494C>T	uc003pcy.4	-	9	1576	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	DST_uc021zay.1_Missense_Mutation_p.E856K|DST_uc021zax.1_Missense_Mutation_p.E490K|DST_uc003pdc.4_Missense_Mutation_p.E490K|DST_uc003pdd.4_Missense_Mutation_p.E490K	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	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	Z disc|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	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein 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														20			21		0	0	0.014323	0	0
LOC646214	646214	broad.mit.edu	37	15	21938105	21938105	+	RNA	SNP	C	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.chr15:21938105C>T	uc010tzj.1	-	0		c.2635G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GGCTTGTCTTCCAGTTCTCTG	0.532000														158			26		0	0	0.004656	0	0
MYO1C	4641	broad.mit.edu	37	17	1371284	1371284	+	Missense_Mutation	SNP	G	A	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	uc002fsp.3	-	27	3114	c.2894C>T	c.(2893-2895)aCc>aTc	p.T965I	MYO1C_uc002fsn.3_Missense_Mutation_p.T946I|MYO1C_uc002fso.3_Missense_Mutation_p.T930I|MYO1C_uc010vqj.1_Missense_Mutation_p.T930I	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	965					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin 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														39			27		0	0	0.005443	0	0
TTC16	158248	broad.mit.edu	37	9	130489606	130489606	+	Nonsense_Mutation	SNP	G	A	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	uc004brq.1	+	11	1693	c.1626G>A	c.(1624-1626)tgG>tgA	p.W542*	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Nonsense_Mutation_p.W529*|TTC16_uc004brr.1_Nonsense_Mutation_p.W392*|TTC16_uc010mxn.1_Nonsense_Mutation_p.W138*	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	542							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCACTCATGGAAGCAGGGGG	0.612000														24			9		0	0	0.008291	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138196929	138196929	+	Silent	SNP	T	C	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	uc003qhr.3	+	3	657	c.591T>C	c.(589-591)ttT>ttC	p.F197F	TNFAIP3_uc003qhs.3_Silent_p.F197F|TNFAIP3_uc021zfv.1_Intron	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	197	OTU.|TRAF-binding.				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|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	DNA binding|caspase inhibitor activity|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"""									66			46		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	14	107062283	107062283	+	RNA	SNP	C	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.chr14:107062283C>T	uc021ser.1	-	150		c.6703G>A								Parts of antibodies, mostly variable regions.																		CCAATCCACTCCAGCCCCTTC	0.567000														35			20		0	0	0.010504	0	0
MYH3	4621	broad.mit.edu	37	17	10538768	10538768	+	Missense_Mutation	SNP	G	A	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	uc002gmq.2	-	29	4176	c.4088C>T	c.(4087-4089)tCc>tTc	p.S1363F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1363					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin 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														107			56		0	0	0.014410	0	0
ADAM18	8749	broad.mit.edu	37	8	39468132	39468132	+	Missense_Mutation	SNP	G	A	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	uc003xni.3	+	5	484	c.429G>A	c.(427-429)atG>atA	p.M143I	ADAM18_uc003xnh.3_Missense_Mutation_p.M143I|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.M143I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	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														10			32		0	0	0.010818	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347137	89347138	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr16:89347137_89347138GG>AT	uc002fmx.1	-	8	6273_6274	c.5812_5813CC>AT	c.(5812-5814)ccc>ATc	p.P1938I	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1938I|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1938I|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1895I	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	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)		GGCGCTGAAGGGACCCTCGTCC	0.698000														40			19		0	0	0.004672	0	0
PIWIL4	143689	broad.mit.edu	37	11	94326773	94326773	+	Silent	SNP	C	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.chr11:94326773C>T	uc001pfa.3	+	8	1327	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	372	PAZ.				DNA methylation involved in gamete generation|cell differentiation|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														57			7		0	0	0.003080	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214032	3214032	+	Missense_Mutation	SNP	T	G	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	uc002fvi.2	+	0	494	c.428T>G	c.(427-429)aTc>aGc	p.I143S						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		AGCTGGGGAATCCAGCAAGCC	0.562000														72			33		0	0	0.010818	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869718	22869718	+	Silent	SNP	G	A	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	uc002zwe.3	-	1	490	c.237C>T	c.(235-237)ttC>ttT	p.F79F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Silent_p.F79F	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	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														59			32		0	0	0.010818	0	0
KLK10	5655	broad.mit.edu	37	19	51518136	51518136	+	Missense_Mutation	SNP	C	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.chr19:51518136C>T	uc002pva.3	-	5	871	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	KLK10_uc002puy.3_Missense_Mutation_p.G251S|KLK10_uc002puz.3_Missense_Mutation_p.G251S	NM_001077500	NP_665895	O43240	KLK10_HUMAN	Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA.	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														50			33		0	0	0.006230	0	0
COL2A1	1280	broad.mit.edu	37	12	48368636	48368636	+	Nonsense_Mutation	SNP	C	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.chr12:48368636C>T	uc001rqu.3	-	51	4077	c.3896G>A	c.(3895-3897)tGg>tAg	p.W1299*	COL2A1_uc001rqt.3_Nonsense_Mutation_p.W80*|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Nonsense_Mutation_p.W1230*	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	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														64			28		0	0	0.008361	0	0
COL4A5	1287	broad.mit.edu	37	X	107863576	107863576	+	Missense_Mutation	SNP	G	T	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	uc022ccg.1	+	30	2799	c.2597G>T	c.(2596-2598)gGg>gTg	p.G866V	COL4A5_uc004enz.1_Missense_Mutation_p.G866V|COL4A5_uc004eob.1_Missense_Mutation_p.G474V	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	866	Triple-helical region.		G -> E (in APSX; adult type).|Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.G866W(1)		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					14			32		1.45844e-13	2.18765e-13	0.013726	1	0
KEL	3792	broad.mit.edu	37	7	142638489	142638489	+	Silent	SNP	C	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.chr7:142638489C>T	uc003wcb.3	-	18	2259	c.2049G>A	c.(2047-2049)agG>agA	p.R683R		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	683					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R683R(2)		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														62			35		0	0	0.005524	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48807854	48807854	+	Missense_Mutation	SNP	C	T	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	uc002rwp.2	+	1	196	c.82C>T	c.(82-84)Cct>Tct	p.P28S	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P28S|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P28S|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P28S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	28					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.P28S(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAATTTTCCTCTGGAGAA	0.473000														50			18		0	0	0.007413	0	0
PRPF3	9129	broad.mit.edu	37	1	150310701	150310701	+	Silent	SNP	G	A	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	uc001eum.4	+	7	1263	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Silent_p.S326S|PRPF3_uc010pcb.2_Silent_p.S318S|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	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														59			5		0	0	0.000602	0	0
SCN4A	6329	broad.mit.edu	37	17	62022955	62022955	+	Missense_Mutation	SNP	T	C	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	uc002jds.1	-	18	3562	c.3485A>G	c.(3484-3486)aAt>aGt	p.N1162S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1162					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M1161I(1)		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														182			83		0	0	0.014410	0	0
TTC7A	57217	broad.mit.edu	37	2	47205993	47205993	+	Silent	SNP	C	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.chr2:47205993C>T	uc010fbb.3	+	4	1079	c.711C>T	c.(709-711)acC>acT	p.T237T	TTC7A_uc002rvm.3_Silent_p.T203T|TTC7A_uc002rvn.1_Silent_p.T118T|TTC7A_uc002rvo.3_Silent_p.T237T|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.T118T|TTC7A_uc002rvq.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	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														29			15		0	0	0.004990	0	0
SCN10A	6336	broad.mit.edu	37	3	38766694	38766694	+	Missense_Mutation	SNP	C	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.chr3:38766694C>T	uc003ciq.3	-	16	3199	c.3199G>A	c.(3199-3201)Gat>Aat	p.D1067N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1067					sensory perception	voltage-gated sodium channel complex		p.D1067H(2)		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														22			12		0	0	0.003163	0	0
OR4K1	79544	broad.mit.edu	37	14	20403841	20403841	+	Missense_Mutation	SNP	G	A	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	uc001vwj.2	+	0	75	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	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														316			78		0	0	0.014410	0	0
IGSF1	3547	broad.mit.edu	37	X	130410986	130410986	+	Silent	SNP	C	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.chrX:130410986C>T	uc004ewe.4	-	13	2833	c.2550G>A	c.(2548-2550)ggG>ggA	p.G850G	IGSF1_uc004ewd.3_Silent_p.G845G|IGSF1_uc022cdv.1_Silent_p.G836G|IGSF1_uc004ewf.2_Silent_p.G825G	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	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														44			125		0	0	0.014410	0	0
TRAV20	28663	broad.mit.edu	37	14	22509271	22509271	+	Missense_Mutation	SNP	C	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.chr14:22509271C>T	uc021rpo.1	+	1	275	c.209C>T	c.(208-210)aCc>aTc	p.T70I	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		TTCCTCTTCACCCTGTATTCA	0.468000														20			13		0	0	0.013537	0	0
CADPS	8618	broad.mit.edu	37	3	62498432	62498432	+	Missense_Mutation	SNP	C	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.chr3:62498432C>T	uc003dll.2	-	16	2953	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N	CADPS_uc003dlk.1_Missense_Mutation_p.D369N|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron|CADPS_uc021wzv.1_Intron	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	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														18			7		0	0	0.003080	0	0
SAMHD1	25939	broad.mit.edu	37	20	35563580	35563580	+	Missense_Mutation	SNP	G	A	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	uc002xgh.2	-	3	561	c.361C>T	c.(361-363)Cct>Tct	p.P121S		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	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														64			14		0	0	0.001855	0	0
OR10G8	219869	broad.mit.edu	37	11	123900997	123900998	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:123900997_123900998CC>TT	uc001pzp.1	+	0	668_669	c.668_669CC>TT	c.(667-669)tcc>tTT	p.S223F		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	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)		ATCGTCTGTTCCATCCTGCGGA	0.530000														35			34		0	0	0.004672	0	0
ENTPD2	954	broad.mit.edu	37	9	139945979	139945979	+	Silent	SNP	C	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.chr9:139945979C>T	uc004ckw.2	-	2	423	c.369G>A	c.(367-369)gcG>gcA	p.A123A	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.A123A	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	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														41			11		0	0	0.010729	0	0
ERGIC3	51614	broad.mit.edu	37	20	34136575	34136575	+	Silent	SNP	C	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.chr20:34136575C>T	uc002xcs.3	+	6	711	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ERGIC3_uc002xcr.1_Silent_p.F214F|ERGIC3_uc010zvg.2_Silent_p.F214F|ERGIC3_uc002xct.3_Silent_p.F214F	NM_198398	NP_938408	Q9Y282	ERGI3_HUMAN	Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA.	214					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|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														53			96		0	0	0.014410	0	0
UPK1A	11045	broad.mit.edu	37	19	36159518	36159518	+	Missense_Mutation	SNP	G	A	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	uc010eeh.3	+	1	247	c.247G>A	c.(247-249)Ggt>Agt	p.G83S	UPK1A_uc002oaw.3_Missense_Mutation_p.G83S|BC007817_uc002oax.1_Missense_Mutation_p.P10L			O00322	UPK1A_HUMAN	Homo sapiens uroplakin 1A (UPK1A), mRNA.	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														10			11		0	0	0.008291	0	0
FCGR1C	100132417	broad.mit.edu	37	1	149378159	149378159	+	RNA	SNP	C	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.chr1:149378159C>T	uc010pbh.2	+	5		c.1200C>T								Homo sapiens Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene (FCGR1C), non-coding RNA.																		GGGTGGCCATCGATCTGGACC	0.562000														18			9		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	107048706	107048706	+	RNA	SNP	C	G	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	uc021ser.1	-	169		c.7324G>C								Parts of antibodies, mostly variable regions.																		GTCCTCGGCTCTCAGGCTGTT	0.547000														135			26		0	0	0.014410	0	0
PTGFR	5737	broad.mit.edu	37	1	79002162	79002162	+	Silent	SNP	C	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.chr1:79002162C>T	uc001din.3	+	2	1136	c.870C>T	c.(868-870)ctC>ctT	p.L290L	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	290					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R290M(1)		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														61			30		0	0	0.008361	0	0
MLL	4297	broad.mit.edu	37	11	118368764	118368765	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr11:118368764_118368765GG>AA	uc001pta.3	+	20	5792_5793	c.5769_5770GG>AA	c.(5767-5772)atggct>atAAct	p.1923_1924MA>IT	MLL_uc001ptb.3_Missense_Mutation_p.1926_1927MA>IT	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1923					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ATGTGCATATGGCTGTGATCAG	0.416000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									42			40		0	0	0.004672	0	0
DAGLA	747	broad.mit.edu	37	11	61503096	61503096	+	Missense_Mutation	SNP	C	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.chr11:61503096C>T	uc001nsa.3	+	10	1308	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	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														46			6		0	0	0.001984	0	0
SEPT12	124404	broad.mit.edu	37	16	4829767	4829767	+	Silent	SNP	C	T	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	uc002cxq.3	-	7	1011	c.747G>A	c.(745-747)gtG>gtA	p.V249V	SEPT12_uc002cxr.3_Silent_p.V203V|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	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														48			34		0	0	0.013726	0	0
HARBI1	283254	broad.mit.edu	37	11	46625317	46625317	+	Silent	SNP	G	A	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	uc001ncy.3	-	2	1061	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	271						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCAGGCAGCGGAATCGGGAGC	0.512000														18			21		0	0	0.003330	0	0
RYR3	6263	broad.mit.edu	37	15	33835867	33835867	+	Missense_Mutation	SNP	G	A	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	uc001zhi.3	+	7	761	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RYR3_uc010bar.3_Missense_Mutation_p.D231N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	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														100			47		0	0	0.014410	0	0
TMED8	283578	broad.mit.edu	37	14	77808281	77808281	+	Missense_Mutation	SNP	C	A	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	uc001xto.1	-	5	811	c.811G>T	c.(811-813)Ggt>Tgt	p.G271C	TMED8_uc001xtn.1_Missense_Mutation_p.G115C	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	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														29			7		6.40141e-05	9.53203e-05	0.010729	1	0
ZFYVE16	9765	broad.mit.edu	37	5	79734515	79734516	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr5:79734515_79734516CC>TT	uc003kgr.4	+	3	2313_2314	c.2011_2012CC>TT	c.(2011-2013)cca>TTa	p.P671L	ZFYVE16_uc010jak.2_Missense_Mutation_p.P671L|ZFYVE16_uc003kgp.3_Missense_Mutation_p.P671L|ZFYVE16_uc003kgq.4_Missense_Mutation_p.P671L|ZFYVE16_uc003kgs.4_Missense_Mutation_p.P671L	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	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)		GCCAGATGTTCCAGATACAATA	0.421000														33			17		0	0	0.004672	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902794	4902794	+	Missense_Mutation	SNP	C	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.chr19:4902794C>T	uc002mbm.3	-	0	86	c.86G>A	c.(85-87)aGa>aAa	p.R29K		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	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														64			26		0	0	0.004656	0	0
LILRA1	11024	broad.mit.edu	37	19	55086385	55086385	+	Silent	SNP	C	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.chr19:55086385C>T	uc010ern.3	+	4	1009	c.540C>T	c.(538-540)ttC>ttT	p.F180F	LILRA1_uc002qgg.4_Silent_p.F180F|LILRA1_uc002qgf.3_Silent_p.F180F|LILRA1_uc010yfe.1_Silent_p.F180F|LILRA1_uc010yff.1_Silent_p.F168F|LILRA1_uc010ero.3_Silent_p.F168F|LILRA1_uc010yfg.1_Silent_p.F180F			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	182	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGCCATCTTCTCCGTGGGCC	0.567000														87			43		0	0	0.007835	0	0
EDIL3	10085	broad.mit.edu	37	5	83360577	83360577	+	Silent	SNP	G	A	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	uc003kio.1	-	7	1313	c.894C>T	c.(892-894)ccC>ccT	p.P298P	EDIL3_uc003kip.1_Silent_p.P288P|EDIL3_uc011ctt.1_Silent_p.P75P	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	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														40			19		0	0	0.008871	0	0
FRAS1	80144	broad.mit.edu	37	4	79300951	79300951	+	Missense_Mutation	SNP	G	A	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	uc003hlb.2	+	26	3804	c.3364G>A	c.(3364-3366)Gat>Aat	p.D1122N	FRAS1_uc003hkw.3_Missense_Mutation_p.D1122N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	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														40			17		0	0	0.004007	0	0
XRCC5	7520	broad.mit.edu	37	2	217006013	217006013	+	Missense_Mutation	SNP	C	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.chr2:217006013C>T	uc002vfy.3	+	12	1587	c.1447C>T	c.(1447-1449)Cca>Tca	p.P483S	XRCC5_uc002vfz.3_Missense_Mutation_p.P369S	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	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						51			20		0	0	0.012319	0	0
NLRP4	147945	broad.mit.edu	37	19	56369317	56369317	+	Silent	SNP	C	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.chr19:56369317C>T	uc002qmd.4	+	2	980	c.558C>T	c.(556-558)ttC>ttT	p.F186F	NLRP4_uc002qmf.3_Silent_p.F111F|NLRP4_uc010etf.3_Silent_p.F17F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	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														82			34		0	0	0.003755	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253705	134253705	+	Missense_Mutation	SNP	G	A	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	uc001qhq.3	-	3	751	c.490C>T	c.(490-492)Ccg>Tcg	p.P164S	B3GAT1_uc001qhr.3_Missense_Mutation_p.P164S|B3GAT1_uc010scv.1_Missense_Mutation_p.P177S	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	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														6			4		0	0	0.000602	0	0
ZNF141	7700	broad.mit.edu	37	4	367297	367297	+	Missense_Mutation	SNP	T	A	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	uc003gaa.2	+	3	1248	c.1071T>A	c.(1069-1071)caT>caA	p.H357Q	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	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														26			5		0	0	0.000602	0	0
MYBPHL	343263	broad.mit.edu	37	1	109839796	109839796	+	Missense_Mutation	SNP	G	A	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	uc001dxk.1	-	3	496	c.446C>T	c.(445-447)cCt>cTt	p.P149L	MYBPHL_uc010ovh.1_Missense_Mutation_p.P126L|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	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														241			113		0	0	0.014410	0	0
SGIP1	84251	broad.mit.edu	37	1	67148038	67148038	+	Missense_Mutation	SNP	C	T	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	uc001dcr.3	+	14	1518	c.1301C>T	c.(1300-1302)cCg>cTg	p.P434L	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.P201L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	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	SH3 domain binding|microtubule binding|phospholipid 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														137			71		0	0	0.014410	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375576	93375576	+	Silent	SNP	G	A	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	uc022bjs.1	-	0	534	c.534C>T	c.(532-534)atC>atT	p.I178I	DIRAS2_uc004aqx.1_Silent_p.I178I	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	178					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.I178I(2)|p.I178V(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTCCCGTCGATCTGGAGAC	0.547000														37			40		0	0	0.006230	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447873	10447873	+	Missense_Mutation	SNP	G	A	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	uc003gmn.3	-	2	567	c.80C>T	c.(79-81)cCt>cTt	p.P27L	ZNF518B_uc021xme.1_Missense_Mutation_p.P27L	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q26L(1)		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														129			72		0	0	0.014410	0	0
SI	6476	broad.mit.edu	37	3	164733868	164733868	+	Splice_Site	SNP	C	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.chr3:164733868C>T	uc003fei.3	-	32	3823	c.3760_splice	c.e32-1	p.D1254_splice		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1254	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)				88			36		0	0	0.003271	0	0
ZNF852	285346	broad.mit.edu	37	3	44541585	44541585	+	Silent	SNP	G	A	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	uc011azx.2	-	3	845	c.684C>T	c.(682-684)tcC>tcT	p.S228S	ZNF445_uc011azw.1_Intron|ZNF852_uc011azy.2_Silent_p.S194S			B6EU87	B6EU87_HUMAN	RecName: Full=Putative 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														11			9		0	0	0.006214	0	0
SHROOM4	57477	broad.mit.edu	37	X	50345803	50345803	+	Nonsense_Mutation	SNP	G	A	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	uc004dpe.2	-	6	3798	c.3772C>T	c.(3772-3774)Cag>Tag	p.Q1258*	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	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														7			21		0	0	0.012319	0	0
KDM5B	10765	broad.mit.edu	37	1	202709872	202709872	+	Missense_Mutation	SNP	G	A	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	uc009xag.3	-	20	3238	c.3122C>T	c.(3121-3123)cCc>cTc	p.P1041L	KDM5B_uc001gyf.3_Missense_Mutation_p.P1005L|KDM5B_uc001gyg.1_Missense_Mutation_p.P847L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	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														38			12		0	0	0.010729	0	0
RPL3	6122	broad.mit.edu	37	22	39711548	39711548	+	Missense_Mutation	SNP	G	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.chr22:39711548G>T	uc003axi.3	-	4	582	c.514C>A	c.(514-516)Cct>Act	p.P172T	RPL3_uc003axh.3_Intron|RPL3_uc003axj.3_Missense_Mutation_p.P20T	NM_000967	NP_000958	P39023	RL3_HUMAN	Homo sapiens ribosomal protein L3 (RPL3), transcript variant 1, mRNA.	172					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein 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														25			17		2.35188e-11	3.52135e-11	0.006122	1	0
UNC93A	54346	broad.mit.edu	37	6	167719405	167719405	+	Silent	SNP	C	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.chr6:167719405C>T	uc003qvq.3	+	5	1018	c.843C>T	c.(841-843)tcC>tcT	p.S281S	UNC93A_uc003qvr.3_Silent_p.S239S	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	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														281			92		0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	216074170	216074170	+	Missense_Mutation	SNP	G	A	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	uc001hku.1	-	38	7765	c.7378C>T	c.(7378-7380)Cgt>Tgt	p.R2460C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	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)				68			38		0	0	0.009718	0	0
CTAGE9	643854	broad.mit.edu	37	6	132032151	132032151	+	Missense_Mutation	SNP	C	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.chr6:132032151C>T	uc011ece.2	-	0	7	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	Homo sapiens CTAGE family, member 9 (CTAGE9), mRNA.	3						integral to membrane				endometrium(1)|lung(1)	2						GCACCAGGCTCCTCCATAGCG	0.607000														18			19		0	0	0.010504	0	0
SLC9A6	10479	broad.mit.edu	37	X	135092682	135092682	+	Silent	SNP	C	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.chrX:135092682C>T	uc004ezk.3	+	6	1057	c.981C>T	c.(979-981)ttC>ttT	p.F327F	SLC9A6_uc011mvx.2_Silent_p.F275F|SLC9A6_uc004ezj.3_Silent_p.F295F	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	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														19			40		0	0	0.006999	0	0
SEPSECS	51091	broad.mit.edu	37	4	25125709	25125709	+	Silent	SNP	G	A	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	uc003grg.3	-	10	1563	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	SEPSECS_uc003gri.3_Silent_p.F449F|SEPSECS_uc003grh.3_Silent_p.F371F	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	450					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	GTCTCTTTATGAACAGGTCCA	0.378000														47			23		0	0	0.003954	0	0
OR2T3	343173	broad.mit.edu	37	1	248637526	248637526	+	Missense_Mutation	SNP	C	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.chr1:248637526C>T	uc001iel.1	+	0	875	c.875C>T	c.(874-876)cCc>cTc	p.P292L		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	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														215			27		0	0	0.013726	0	0
ASTN1	460	broad.mit.edu	37	1	176838039	176838039	+	Silent	SNP	G	A	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	uc001glc.3	-	21	3800	c.3588C>T	c.(3586-3588)aaC>aaT	p.N1196N	ASTN1_uc001glb.1_Silent_p.N1196N|ASTN1_uc001gld.1_Silent_p.N1196N	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	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														61			35		0	0	0.010771	0	0
HIPK1	204851	broad.mit.edu	37	1	114515735	114515735	+	Silent	SNP	C	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.chr1:114515735C>T	uc001eem.3	+	15	3395	c.3234C>T	c.(3232-3234)tcC>tcT	p.S1078S	HIPK1_uc001een.3_Silent_p.S1078S|HIPK1_uc001eeo.3_Silent_p.S704S|HIPK1_uc001eep.3_Silent_p.S684S|HIPK1_uc001eeq.3_Silent_p.S370S	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	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														69			40		0	0	0.007835	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254464	30254464	+	Silent	SNP	C	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.chrX:30254464C>T	uc022bug.1	+	0	423	c.423C>T	c.(421-423)gtC>gtT	p.V141V	MAGEB3_uc004dca.2_Silent_p.V141V	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	141	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TAAAAATTGTCCAAAAAAGCC	0.358000														7			21		0	0	0.010504	0	0
LRRC32	2615	broad.mit.edu	37	11	76371809	76371809	+	Silent	SNP	G	A	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	uc001oxq.4	-	2	1071	c.828C>T	c.(826-828)ctC>ctT	p.L276L	LRRC32_uc001oxr.4_Silent_p.L276L|LRRC32_uc010rsf.2_Silent_p.L276L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	276						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGAGCCGGATGAGGTTGTTGG	0.642000														24			39		0	0	0.006999	0	0
FLVCR1	28982	broad.mit.edu	37	1	213046037	213046037	+	Missense_Mutation	SNP	C	T	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	uc001hjt.3	+	2	1099	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	301					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	p.R301Q(1)		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														30			9		0	0	0.004482	0	0
MB	4151	broad.mit.edu	37	22	36007060	36007060	+	Silent	SNP	C	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.chr22:36007060C>T	uc003anz.3	-	1	269	c.189G>A	c.(187-189)aaG>aaA	p.K63K	MB_uc003aoa.3_Silent_p.K63K|MB_uc003aob.3_Silent_p.K63K	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	63							heme binding|oxygen transporter activity			lung(1)	1						CACCATGCTTCTTTAAGTCCT	0.547000														50			19		0	0	0.008871	0	0
PTPRB	5787	broad.mit.edu	37	12	70989867	70989867	+	Missense_Mutation	SNP	C	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.chr12:70989867C>T	uc001swb.4	-	2	596	c.566G>A	c.(565-567)gGa>gAa	p.G189E	PTPRB_uc010sto.2_Missense_Mutation_p.G189E|PTPRB_uc010stp.2_Missense_Mutation_p.G189E|PTPRB_uc001swc.4_Missense_Mutation_p.G407E|PTPRB_uc001swa.4_Missense_Mutation_p.G407E|PTPRB_uc001swd.4_Missense_Mutation_p.G406E|PTPRB_uc009zrr.2_Missense_Mutation_p.G286E|PTPRB_uc001swe.3_Missense_Mutation_p.G407E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	189	Fibronectin type-III 2.				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														18			4		0	0	0.009096	0	0
FOLH1B	219595	broad.mit.edu	37	11	89405092	89405092	+	Nonsense_Mutation	SNP	G	A	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	uc001pda.3	+	4	745	c.219G>A	c.(217-219)tgG>tgA	p.W73*		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	73					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.W73C(2)		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														48			42		0	0	0.014410	0	0
PFKFB3	5209	broad.mit.edu	37	10	6258674	6258674	+	Silent	SNP	C	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.chr10:6258674C>T	uc001ije.3	+	4	756	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PFKFB3_uc001ijd.3_Silent_p.F104F|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.F138F|PFKFB3_uc001ijf.3_Silent_p.F124F	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	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														68			55		0	0	0.014410	0	0
XRCC6	2547	broad.mit.edu	37	22	42033664	42033664	+	Silent	SNP	C	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.chr22:42033664C>T	uc003bao.1	+	5	712	c.642C>T	c.(640-642)tcC>tcT	p.S214S	XRCC6_uc003bap.1_Silent_p.S173S|XRCC6_uc011apc.1_Silent_p.S164S|XRCC6_uc003bar.2_Silent_p.S214S	NM_001469	NP_001460	P12956	XRCC6_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.	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						20			6		0	0	0.001168	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657603	100657603	+	Missense_Mutation	SNP	C	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.chr12:100657603C>T	uc009ztv.1	-	1	229	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.E76K|DEPDC4_uc001thj.1_Intron|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	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														34			15		0	0	0.002450	0	0
DSE	29940	broad.mit.edu	37	6	116757797	116757798	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:116757797_116757798CC>TT	uc011ebg.2	+	5	2322_2323	c.2223_2224CC>TT	c.(2221-2226)gaccgg>gaTTgg	p.R742W	DSE_uc003pws.3_Missense_Mutation_p.R723W|DSE_uc003pwt.3_Missense_Mutation_p.R723W|DSE_uc003pwu.3_Missense_Mutation_p.R390W	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	723					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|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)		TTCTGTTTGACCGGAATTCAGC	0.490000														60			37		0	0	0.004672	0	0
FAM151A	338094	broad.mit.edu	37	1	55078336	55078336	+	Missense_Mutation	SNP	G	A	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	uc001cxn.3	-	4	755	c.623C>T	c.(622-624)cCa>cTa	p.P208L	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	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														55			33		0	0	0.004878	0	0
KRT6B	3854	broad.mit.edu	37	12	52843335	52843335	+	Missense_Mutation	SNP	C	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.chr12:52843335C>T	uc001sak.3	-	4	1043	c.995G>A	c.(994-996)aGc>aAc	p.S332N		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	332	Linker 12.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.S332T(2)		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														91			57		0	0	0.014410	0	0
F2RL3	9002	broad.mit.edu	37	19	17001310	17001310	+	Missense_Mutation	SNP	G	A	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	uc002nfa.3	+	1	1211	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	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														14			12		0	0	0.010729	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184600	130184600	+	Silent	SNP	C	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.chr12:130184600C>T	uc009zyl.1	-	1	1051	c.723G>A	c.(721-723)agG>agA	p.R241R		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	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														51			16		0	0	0.007413	0	0
DOK3	79930	broad.mit.edu	37	5	176931356	176931356	+	Silent	SNP	G	A	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	uc003mhk.3	-	5	1124	c.1119C>T	c.(1117-1119)ccC>ccT	p.P373P	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	373	Pro-rich.					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														18			8		0	0	0.008291	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545958	138545958	+	Missense_Mutation	SNP	G	A	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	uc011kql.2	-	15	5223	c.5174C>T	c.(5173-5175)tCc>tTc	p.S1725F	KIAA1549_uc011kqi.2_Missense_Mutation_p.S509F|KIAA1549_uc011kqk.2_Missense_Mutation_p.S509F|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1725F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1725						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTCTTCCTGGGAAGGGGTGCT	0.652000			O	BRAF	pilocytic astrocytoma									49			23		0	0	0.003330	0	0
CSMD1	64478	broad.mit.edu	37	8	3855558	3855558	+	Missense_Mutation	SNP	C	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.chr8:3855558C>T	uc022aqr.1	-	4	1075	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	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														1			7		0	0	0.003080	0	0
CHST6	4166	broad.mit.edu	37	16	75513562	75513562	+	Silent	SNP	G	A	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	uc021tlj.1	-	0	165	c.165C>T	c.(163-165)ttC>ttT	p.F55F	CHST6_uc002fef.3_Silent_p.F55F|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Silent_p.F55F	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	55					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic 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														14			9		0	0	0.008291	0	0
HIPK3	10114	broad.mit.edu	37	11	33374997	33374997	+	Silent	SNP	C	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.chr11:33374997C>T	uc001mul.1	+	16	3801	c.3531C>T	c.(3529-3531)acC>acT	p.T1177T	HIPK3_uc001mum.1_Silent_p.T1156T|HIPK3_uc009yjv.1_Silent_p.T1156T	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	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	p.T1177A(1)		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														50			67		0	0	0.014410	0	0
PRSS3	5646	broad.mit.edu	37	9	33797909	33797909	+	Missense_Mutation	SNP	C	T	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	uc003ztj.4	+	2	505	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	PRSS3_uc003zti.4_Missense_Mutation_p.R109C|PRSS3_uc022bfu.1_Missense_Mutation_p.R88C|PRSS3_uc003ztl.4_Missense_Mutation_p.R95C	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	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														22			38		0	0	0.004878	0	0
LGALS4	3960	broad.mit.edu	37	19	39303139	39303140	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr19:39303139_39303140GG>AA	uc002ojg.3	-	1	279_280	c.65_66CC>TT	c.(64-66)ccc>cTT	p.P22L	LGALS4_uc010xuj.2_Missense_Mutation_p.P22L	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	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)			CGCCCGGGATGGGCTGGTAGTA	0.619000														36			15		0	0	0.004672	0	0
CYP2J2	1573	broad.mit.edu	37	1	60370618	60370618	+	Missense_Mutation	SNP	C	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.chr1:60370618C>T	uc001czq.3	-	6	1121	c.1116G>A	c.(1114-1116)atG>atA	p.M372I		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	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														62			25		0	0	0.003330	0	0
ENPP4	22875	broad.mit.edu	37	6	46107915	46107915	+	Missense_Mutation	SNP	G	A	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	uc003oxy.3	+	1	854	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	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														31			36		0	0	0.004289	0	0
SAA1	6288	broad.mit.edu	37	11	18291328	18291328	+	Missense_Mutation	SNP	G	A	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	uc021qem.1	+	4	396	c.295G>A	c.(295-297)Gct>Act	p.A99T	SAA1_uc021qen.1_Missense_Mutation_p.A99T|SAA1_uc021qeo.1_Missense_Mutation_p.A99T	NM_001178006	NP_954630	P02735	SAA_HUMAN	Homo sapiens serum amyloid A1 (SAA1), transcript variant 3, mRNA.	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														31			37		0	0	0.004289	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839817	40839817	+	Missense_Mutation	SNP	C	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.chr17:40839817C>T	uc002iay.3	+	7	1340	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	375					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			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														64			23		0	0	0.002780	0	0
MYH4	4622	broad.mit.edu	37	17	10356643	10356643	+	Silent	SNP	C	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.chr17:10356643C>T	uc002gmn.3	-	23	3048	c.2937G>A	c.(2935-2937)gtG>gtA	p.V979V	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	979					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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														87			44		0	0	0.014410	0	0
DENND2A	27147	broad.mit.edu	37	7	140301627	140301627	+	Missense_Mutation	SNP	G	A	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	uc010lnk.3	-	2	1091	c.571C>T	c.(571-573)Cct>Tct	p.P191S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.P191S|DENND2A_uc003vvw.3_Missense_Mutation_p.P191S|DENND2A_uc003vvx.3_Missense_Mutation_p.P191S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	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														47			31		0	0	0.009535	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746581	90746581	+	Missense_Mutation	SNP	C	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.chr9:90746581C>T	uc011lti.2	-	3	1400	c.1371G>A	c.(1369-1371)atG>atA	p.M457I		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	457																	CACGTTGCCCCATGTGTTGCT	0.537000														97			35		0	0	0.004878	0	0
MYO1B	4430	broad.mit.edu	37	2	192141644	192141644	+	Missense_Mutation	SNP	C	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.chr2:192141644C>T	uc010fsg.2	+	1	278	c.23C>T	c.(22-24)aCc>aTc	p.T8I	MYO1B_uc002usq.2_Missense_Mutation_p.T8I|MYO1B_uc002usr.2_Missense_Mutation_p.T8I|MYO1B_uc002uss.1_Missense_Mutation_p.T8I	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	8						myosin complex	ATP binding|actin 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														46			51		0	0	0.014410	0	0
C3orf71	646450	broad.mit.edu	37	3	48956273	48956273	+	Missense_Mutation	SNP	C	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.chr3:48956273C>T	uc010hkk.1	-	0	546	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.	104						integral to membrane				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						CCAAGCACTTCCGGAGCTGTG	0.711000														11			15		0	0	0.004007	0	0
ITIH3	3699	broad.mit.edu	37	3	52835087	52835087	+	Silent	SNP	G	A	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.chr3:52835087G>A	uc003dfv.2	+	10	1344	c.1308G>A	c.(1306-1308)ctG>ctA	p.L436L	ITIH3_uc011bek.1_Silent_p.L436L	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	436	VWFA.				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)		ATAACTTCCTGGAGAACATGG	0.507000														48			18		0	0	0.007413	0	0
TMEM11	8834	broad.mit.edu	37	17	21102044	21102045	+	Nonsense_Mutation	DNP	TG	GT	GT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:21102044_21102045TG>GT	uc002gyp.2	-	1	614_615	c.171_172CA>AC	c.(169-174)tacaag>taACag	p.57_58YK>*Q	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	Homo sapiens transmembrane protein 11 (TMEM11), transcript variant 1, mRNA.	57					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						ACAATGTACTTGTACTGGGCTT	0.589000														41			12		0	0	0.004672	0	0
FAM82A2	55177	broad.mit.edu	37	15	41029489	41029490	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr15:41029489_41029490GG>AA	uc001zmp.1	-	10	1459_1460	c.1274_1275CC>TT	c.(1273-1275)tcc>tTT	p.S425F	FAM82A2_uc001zmo.1_Missense_Mutation_p.S425F|FAM82A2_uc001zmq.1_Missense_Mutation_p.S425F	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	425					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						AGTTTACCTTGGAAATATATAC	0.391000														98			43		0	0	0.004672	0	0
OR4D6	219983	broad.mit.edu	37	11	59225123	59225123	+	Silent	SNP	G	A	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	uc010rku.2	+	0	690	c.690G>A	c.(688-690)ggG>ggA	p.G230G		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G230V(1)		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														39			46		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9072100	9072100	+	Missense_Mutation	SNP	C	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.chr19:9072100C>T	uc002mkp.3	-	2	15550	c.15346G>A	c.(15346-15348)Gaa>Aaa	p.E5116K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	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														79			42		0	0	0.006999	0	0
DYSF	8291	broad.mit.edu	37	2	71891477	71891477	+	Missense_Mutation	SNP	G	A	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	uc010fen.3	+	45	5224	c.5083G>A	c.(5083-5085)Gac>Aac	p.D1695N	DYSF_uc010fei.3_Missense_Mutation_p.D1673N|DYSF_uc010feh.3_Missense_Mutation_p.D1663N|DYSF_uc002sig.4_Missense_Mutation_p.D1642N|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D1687N|DYSF_uc010fee.3_Missense_Mutation_p.D1677N|DYSF_uc010fef.3_Missense_Mutation_p.D1694N|DYSF_uc002sie.3_Missense_Mutation_p.D1656N|DYSF_uc010feo.3_Missense_Mutation_p.D1688N|DYSF_uc010fej.3_Missense_Mutation_p.D1664N|DYSF_uc010fel.3_Missense_Mutation_p.D1643N|DYSF_uc010fem.3_Missense_Mutation_p.D1678N|DYSF_uc002sif.3_Missense_Mutation_p.D1657N|DYSF_uc010fek.3_Missense_Mutation_p.D1674N|DYSF_uc010yqy.2_Missense_Mutation_p.D537N|DYSF_uc010yqz.2_Missense_Mutation_p.D417N	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1656						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														51			25		0	0	0.003330	0	0
EPHA3	2042	broad.mit.edu	37	3	89480404	89480404	+	Silent	SNP	C	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.chr3:89480404C>T	uc003dqy.3	+	12	2466	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	EPHA3_uc021xbf.1_Silent_p.L747L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	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)				29			22		0	0	0.010504	0	0
ABCA8	10351	broad.mit.edu	37	17	66902222	66902222	+	Silent	SNP	G	A	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	uc002jhq.3	-	18	2701	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	ABCA8_uc002jhp.3_Silent_p.F747F|ABCA8_uc010wqq.2_Silent_p.F787F|ABCA8_uc010wqr.2_Silent_p.F726F|ABCA8_uc002jhr.3_Silent_p.F787F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	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														100			39		0	0	0.007835	0	0
FAP	2191	broad.mit.edu	37	2	163045640	163045640	+	Missense_Mutation	SNP	G	A	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	uc002ucd.3	-	18	1800	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	FAP_uc010fpc.3_Missense_Mutation_p.S80L|FAP_uc010zct.2_Missense_Mutation_p.S506L	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	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														41			30		0	0	0.012213	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249817	140249817	+	Missense_Mutation	SNP	G	C	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	uc003lia.2	+	0	1987	c.1129G>C	c.(1129-1131)Gac>Cac	p.D377H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.D377H	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	393	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGACCGTGACTCAGGTGT	0.577000														50			28		0	0	0.004656	0	0
MYOCD	93649	broad.mit.edu	37	17	12649390	12649390	+	Splice_Site	SNP	G	A	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	uc002gno.2	+	9	1424	c.1125_splice	c.e9+1	p.K375_splice	MYOCD_uc002gnn.2_Splice_Site_p.K375_splice|MYOCD_uc002gnp.1_Splice_Site_p.K279_splice|MYOCD_uc002gnq.2_Splice_Site_p.K94_splice	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	375	SAP.				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	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|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														47			22		0	0	0.014323	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761981	130761981	+	Silent	SNP	C	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.chr6:130761981C>T	uc003qcb.3	+	1	2792	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TMEM200A_uc003qca.3_Silent_p.F138F|TMEM200A_uc010kfh.3_Silent_p.F138F|TMEM200A_uc010kfi.3_Silent_p.F138F|TMEM200A_uc021zfg.1_Silent_p.F138F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	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
SCAND3	114821	broad.mit.edu	37	6	28543044	28543044	+	Nonsense_Mutation	SNP	G	A	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	uc003nlo.3	-	2	2056	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	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														48			53		0	0	0.014410	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135770138	135770138	+	Missense_Mutation	SNP	C	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.chrX:135770138C>T	uc004fab.3	-	10	1660	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N	ARHGEF6_uc011mwd.2_Missense_Mutation_p.D273N|ARHGEF6_uc011mwe.2_Missense_Mutation_p.D246N	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	400	DH.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|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														59			5		0	0	0.000602	0	0
TICAM1	148022	broad.mit.edu	37	19	4816401	4816401	+	Silent	SNP	G	A	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	uc002mbi.3	-	1	2240	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F	TICAM1_uc021unj.1_Silent_p.F663F	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	663	Pro-rich.|Sufficient to induce apoptosis.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|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														36			13		0	0	0.001855	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150271	92150271	+	Missense_Mutation	SNP	C	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.chr14:92150271C>T	uc001xzs.1	-	10	1021	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	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														65			26		0	0	0.007291	0	0
OR4D9	390199	broad.mit.edu	37	11	59282862	59282862	+	Silent	SNP	G	A	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	uc010rkv.2	+	0	477	c.477G>A	c.(475-477)caG>caA	p.Q159Q		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	159			Q -> R (in dbSNP:rs17501584).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A158V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCATAGCGCAGATTTCTCTAT	0.547000														36			50		0	0	0.014410	0	0
APLP1	333	broad.mit.edu	37	19	36369000	36369000	+	Silent	SNP	C	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.chr19:36369000C>T	uc002oce.3	+	12	1704	c.1566C>T	c.(1564-1566)acC>acT	p.T522T	APLP1_uc010xsz.2_Silent_p.T483T|APLP1_uc002ocf.3_Silent_p.T523T|APLP1_uc002ocg.3_Silent_p.T426T|APLP1_uc010xta.2_Silent_p.T516T	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	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														121			68		0	0	0.014410	0	0
SCG2	7857	broad.mit.edu	37	2	224463209	224463209	+	Silent	SNP	C	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.chr2:224463209C>T	uc021vxk.1	-	0	792	c.792G>A	c.(790-792)gaG>gaA	p.E264E	SCG2_uc002vnm.3_Silent_p.E264E	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	264					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|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														121			101		0	0	0.014410	0	0
LUZP2	338645	broad.mit.edu	37	11	25100138	25100138	+	Missense_Mutation	SNP	A	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.chr11:25100138A>T	uc001mqs.3	+	11	1249	c.975A>T	c.(973-975)aaA>aaT	p.K325N	LUZP2_uc009yif.3_Missense_Mutation_p.K239N|LUZP2_uc009yig.3_Missense_Mutation_p.K283N	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	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														39			44		0	0	0.014410	0	0
RTP1	132112	broad.mit.edu	37	3	186915556	186915556	+	Missense_Mutation	SNP	G	A	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	uc003frg.3	+	0	283	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	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														52			24		0	0	0.003954	0	0
SYCP2L	221711	broad.mit.edu	37	6	10935409	10935409	+	Missense_Mutation	SNP	C	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.chr6:10935409C>T	uc003mzo.3	+	20	2098	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V	SYCP2L_uc010jow.3_Missense_Mutation_p.A221V	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	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														24			15		0	0	0.008871	0	0
CCDC61	729440	broad.mit.edu	37	19	46498700	46498700	+	Missense_Mutation	SNP	C	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.chr19:46498700C>T	uc002pdw.3	+	1	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F	CCDC61_uc021uwd.1_5'UTR	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											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														10			9		0	0	0.001855	0	0
PDCD11	22984	broad.mit.edu	37	10	105203821	105203821	+	Silent	SNP	G	A	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	uc001kwy.1	+	33	5361	c.5274G>A	c.(5272-5274)aaG>aaA	p.K1758K		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	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														11			13		0	0	0.013537	0	0
SSR1	6745	broad.mit.edu	37	6	7295626	7295626	+	Splice_Site	SNP	G	A	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	uc003mxf.4	-	7	981	c.793_splice	c.e7+1	p.N265_splice		NM_003144	NP_003135	P43307	SSRA_HUMAN	Homo sapiens signal sequence receptor, alpha (SSR1), mRNA.	265					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														20			15		0	0	0.004990	0	0
TFPI	7035	broad.mit.edu	37	2	188361661	188361661	+	Missense_Mutation	SNP	C	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.chr2:188361661C>T	uc002upy.3	-	2	561	c.266G>A	c.(265-267)gGa>gAa	p.G89E	TFPI_uc002uqa.2_Missense_Mutation_p.G89E|TFPI_uc002uqb.2_Missense_Mutation_p.G89E	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	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														54			19		0	0	0.012319	0	0
ZNF660	285349	broad.mit.edu	37	3	44636455	44636455	+	Missense_Mutation	SNP	C	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.chr3:44636455C>T	uc003cnl.1	+	2	1103	c.770C>T	c.(769-771)tCt>tTt	p.S257F	ZNF660_uc021wwp.1_Missense_Mutation_p.S257F	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	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														38			19		0	0	0.006122	0	0
LYPD6B	130576	broad.mit.edu	37	2	150069603	150069603	+	Silent	SNP	C	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.chr2:150069603C>T	uc002twv.1	+	5	827	c.426C>T	c.(424-426)gtC>gtT	p.V142V	LYPD6B_uc002tww.1_Silent_p.V104V|LYPD6B_uc002twx.1_Silent_p.V104V	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	Homo sapiens LY6/PLAUR domain containing 6B (LYPD6B), mRNA.	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														74			68		0	0	0.014410	0	0
CNGB3	54714	broad.mit.edu	37	8	87755845	87755845	+	Missense_Mutation	SNP	G	A	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	uc003ydx.3	-	0	59	c.11C>T	c.(10-12)tCg>tTg	p.S4L		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	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														24			59		0	0	0.014410	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925358	54925358	+	Silent	SNP	C	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.chr12:54925358C>T	uc001sgc.4	+	23	2767	c.2688C>T	c.(2686-2688)ccC>ccT	p.P896P	NCKAP1L_uc010sox.2_Silent_p.P438P|NCKAP1L_uc010soy.2_Silent_p.P846P	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	896					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|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 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 T cell proliferation|positive regulation of actin filament polymerization|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|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase 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														51			33		0	0	0.003755	0	0
FHL5	9457	broad.mit.edu	37	6	97052625	97052625	+	Splice_Site	SNP	G	A	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	uc003pos.2	+	4	576	c.160_splice	c.e4-1	p.D54_splice	FHL5_uc003pot.2_Splice_Site_p.D54_splice	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	54	LIM zinc-binding 1.					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														36			34		0	0	0.003271	0	0
LIFR	3977	broad.mit.edu	37	5	38484964	38484964	+	Missense_Mutation	SNP	C	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.chr5:38484964C>T	uc010ive.1	-	17	2836	c.2504G>A	c.(2503-2505)gGa>gAa	p.G835E	LIFR_uc003jli.2_Missense_Mutation_p.G835E	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	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(3)|p.G835G(1)		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									23			8		0	0	0.004482	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965577	35965577	+	Missense_Mutation	SNP	C	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.chr5:35965577C>T	uc003jjv.2	-	3	947	c.754G>A	c.(754-756)Gat>Aat	p.D252N	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.D252N|UGT3A1_uc011cor.2_Missense_Mutation_p.D218N|UGT3A1_uc003jjy.2_Missense_Mutation_p.D198N	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	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														50			26		0	0	0.003330	0	0
LCE3D	84648	broad.mit.edu	37	1	152552383	152552383	+	Silent	SNP	G	A	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	uc021oza.1	-	0	30	c.30C>T	c.(28-30)tgC>tgT	p.C10C	LCE3D_uc001fab.3_Silent_p.C10C	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	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														48			20		0	0	0.002780	0	0
OBSCN	84033	broad.mit.edu	37	1	228482539	228482539	+	Silent	SNP	G	A	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	uc009xez.1	+	42	11498	c.11454G>A	c.(11452-11454)acG>acA	p.T3818T	OBSCN_uc001hsn.3_Silent_p.T3818T|OBSCN_uc001hsq.1_Silent_p.T1074T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3818	Ig-like 39.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.G3818E(1)|p.G3818V(1)		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														86			40		0	0	0.006230	0	0
RFXANK	8625	broad.mit.edu	37	19	19304881	19304881	+	Silent	SNP	C	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.chr19:19304881C>T	uc002nls.3	+	2	631	c.126C>T	c.(124-126)ctC>ctT	p.L42L	MEF2B_uc002nlp.2_5'Flank|MEF2B_uc010xqp.1_5'Flank|MEF2B_uc002nlo.2_5'Flank|MEF2BNB_uc002nlq.3_5'Flank|MEF2BNB_uc002nlr.4_5'Flank|MEF2B_uc010ecb.2_5'Flank|RFXANK_uc002nlt.3_Silent_p.L42L|RFXANK_uc002nlu.3_Silent_p.L42L|RFXANK_uc002nlv.3_Silent_p.L42L|RFXANK_uc021uqt.1_Silent_p.L42L	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	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														61			38		0	0	0.006230	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283633	40283633	+	Silent	SNP	G	A	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	uc003ayg.3	-	1	371	c.120C>T	c.(118-120)atC>atT	p.I40I		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	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														67			24		0	0	0.002780	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960830	51960830	+	Silent	SNP	G	A	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	uc002pwt.3	-	1	685	c.618C>T	c.(616-618)tcC>tcT	p.S206S	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	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
NLRP4	147945	broad.mit.edu	37	19	56369851	56369851	+	Silent	SNP	C	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.chr19:56369851C>T	uc002qmd.4	+	2	1514	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	NLRP4_uc002qmf.3_Silent_p.T289T|NLRP4_uc010etf.3_Silent_p.T195T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	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														36			16		0	0	0.003163	0	0
GPX5	2880	broad.mit.edu	37	6	28501836	28501836	+	Silent	SNP	C	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.chr6:28501836C>T	uc003nll.2	+	4	560	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	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														93			28		0	0	0.008361	0	0
DCLK3	85443	broad.mit.edu	37	3	36779026	36779026	+	Silent	SNP	G	A	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	uc003cgi.2	-	1	1616	c.1125C>T	c.(1123-1125)caC>caT	p.H375H		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	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														38			21		0	0	0.010504	0	0
HYDIN	54768	broad.mit.edu	37	16	71103256	71103256	+	Missense_Mutation	SNP	C	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.chr16:71103256C>T	uc002ezr.3	-	13	2039	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	HYDIN_uc010cfz.2_Missense_Mutation_p.E375K|HYDIN_uc021tkq.1_Missense_Mutation_p.E630K|HYDIN_uc010vmc.2_Missense_Mutation_p.E647K|HYDIN_uc010vmd.2_Missense_Mutation_p.E657K|HYDIN_uc002ezw.4_Missense_Mutation_p.E647K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	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														74			28		0	0	0.013726	0	0
FSHR	2492	broad.mit.edu	37	2	49190127	49190127	+	Silent	SNP	C	T	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	uc002rww.3	-	9	1943	c.1833G>A	c.(1831-1833)ctG>ctA	p.L611L	FSHR_uc010fbn.3_Silent_p.L585L|FSHR_uc002rwx.3_Silent_p.L549L	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	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					44			18		0	0	0.010504	0	0
CARD10	29775	broad.mit.edu	37	22	37891784	37891785	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr22:37891784_37891785GG>AA	uc003asx.1	-	13	2302_2303	c.2285_2286CC>TT	c.(2284-2286)acc>aTT	p.T762I	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.T80I|CARD10_uc003asw.1_Missense_Mutation_p.T476I|CARD10_uc003asy.1_Missense_Mutation_p.T762I	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	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)					AATTGGGCACGGTGCCCCGGTC	0.644000														21			17		0	0	0.004672	0	0
APOB	338	broad.mit.edu	37	2	21230280	21230280	+	Missense_Mutation	SNP	C	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.chr2:21230280C>T	uc002red.3	-	25	9588	c.9460G>A	c.(9460-9462)Gaa>Aaa	p.E3154K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	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														337			328		0	0	0.014410	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	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.chr6:136599532C>T	uc003qgx.1	-	3	740	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E161K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E161K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E163K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	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														225			32		0	0	0.010818	0	0
TPTE	7179	broad.mit.edu	37	21	10971337	10971337	+	Missense_Mutation	SNP	G	A	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	uc002yip.1	-	4	388	c.20C>T	c.(19-21)cCg>cTg	p.P7L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P7L|TPTE_uc002yir.1_Missense_Mutation_p.P7L|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	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														43			17		0	0	0.008871	0	0
IP6K3	117283	broad.mit.edu	37	6	33690634	33690635	+	Missense_Mutation	DNP	GG	AA	AA	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.chr6:33690634_33690635GG>AA	uc010jvf.2	-	6	1631_1632	c.1095_1096CC>TT	c.(1093-1098)atccgc>atTTgc	p.R366C	IP6K3_uc003ofb.2_Missense_Mutation_p.R366C	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	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						TCAATCATGCGGATGTCAACCT	0.569000														90			43		0	0	0.004672	0	0
MECOM	2122	broad.mit.edu	37	3	168834197	168834197	+	Missense_Mutation	SNP	G	A	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	uc011bpj.1	-	7	1866	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	MECOM_uc010hwk.1_Missense_Mutation_p.S323F|MECOM_uc003ffj.3_Missense_Mutation_p.S365F|MECOM_uc003ffi.3_Missense_Mutation_p.S300F|MECOM_uc011bpi.1_Missense_Mutation_p.S301F|MECOM_uc003ffn.3_Missense_Mutation_p.S300F|MECOM_uc003ffk.2_Missense_Mutation_p.S300F|MECOM_uc003ffl.2_Missense_Mutation_p.S460F|MECOM_uc011bpk.1_Missense_Mutation_p.S300F|MECOM_uc010hwn.2_Missense_Mutation_p.S488F	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.S487S(1)		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														30			17		0	0	0.007413	0	0
STARD13	90627	broad.mit.edu	37	13	33679773	33679773	+	Missense_Mutation	SNP	G	A	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	uc001uuw.3	-	13	3425	c.3299C>T	c.(3298-3300)tCt>tTt	p.S1100F	STARD13_uc001uuu.3_Missense_Mutation_p.S1092F|STARD13_uc001uuv.3_Missense_Mutation_p.S982F|STARD13_uc001uux.3_Missense_Mutation_p.S1065F	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	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														30			55		0	0	0.014410	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729233	18729233	+	Silent	SNP	C	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.chr19:18729233C>T	uc002njy.4	+	6	918	c.831C>T	c.(829-831)tcC>tcT	p.S277S		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	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														15			6		0	0	0.001168	0	0
RAI1	10743	broad.mit.edu	37	17	17700192	17700193	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr17:17700192_17700193CC>TT	uc002grm.3	+	2	4399_4400	c.3930_3931CC>TT	c.(3928-3933)ttccag>ttTTag	p.Q1311*	RAI1_uc002grn.1_Nonsense_Mutation_p.Q1311*	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	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)		GGGCAGCCTTCCAGGGGGCCAT	0.649000														61			62		0	0	0.004672	0	0
NLRP5	126206	broad.mit.edu	37	19	56539800	56539800	+	Missense_Mutation	SNP	G	C	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	uc002qmj.3	+	6	2201	c.2201G>C	c.(2200-2202)cGg>cCg	p.R734P	NLRP5_uc002qmi.3_Missense_Mutation_p.R715P	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	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														126			64		0	0	0.014410	0	0
DNAH3	55567	broad.mit.edu	37	16	20999096	20999096	+	Silent	SNP	C	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.chr16:20999096C>T	uc010vbe.2	-	45	6801	c.6801G>A	c.(6799-6801)tcG>tcA	p.S2267S	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	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(3)		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														40			21		0	0	0.003330	0	0
SCN10A	6336	broad.mit.edu	37	3	38781155	38781155	+	Missense_Mutation	SNP	C	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.chr3:38781155C>T	uc003ciq.3	-	13	2131	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	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														22			7		0	0	0.008291	0	0
CDH7	1005	broad.mit.edu	37	18	63477219	63477219	+	Missense_Mutation	SNP	G	A	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	uc002lkb.3	+	2	916	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CDH7_uc002ljz.3_Missense_Mutation_p.E164K|CDH7_uc002lka.3_Missense_Mutation_p.E164K	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	164	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E164K(3)		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														74			41		0	0	0.014410	0	0
TRPS1	7227	broad.mit.edu	37	8	116632016	116632016	+	Silent	SNP	G	A	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	uc003yny.3	-	2	887	c.309C>T	c.(307-309)agC>agT	p.S103S	TRPS1_uc011lhy.2_Silent_p.S94S|TRPS1_uc003ynz.3_Silent_p.S90S|TRPS1_uc010mcy.3_Silent_p.S90S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	90					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|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					24			91		0	0	0.014410	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159496	92159496	+	Missense_Mutation	SNP	G	A	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	uc001xzs.1	-	8	945	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	269					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R269C(2)		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														49			28		0	0	0.008361	0	0
OR2C3	81472	broad.mit.edu	37	1	247695273	247695273	+	Missense_Mutation	SNP	C	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.chr1:247695273C>T	uc021pmb.1	-	0	541	c.541G>A	c.(541-543)Gag>Aag	p.E181K	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.E181K	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	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														15			11		0	0	0.010729	0	0
MEIS1	4211	broad.mit.edu	37	2	66739376	66739376	+	Missense_Mutation	SNP	C	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.chr2:66739376C>T	uc002sdu.3	+	7	1295	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	MEIS1_uc002sdt.3_Missense_Mutation_p.P280S|MEIS1_uc010yqh.2_Intron|MEIS1_uc010yqi.2_Missense_Mutation_p.P215S|MEIS1_uc002sdw.1_Missense_Mutation_p.P136S	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	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														10			12		0	0	0.010729	0	0
ARMC9	80210	broad.mit.edu	37	2	232141433	232141433	+	Silent	SNP	C	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.chr2:232141433C>T	uc002vrq.4	+	14	1531	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	ARMC9_uc002vrp.4_Silent_p.D473D|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	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														78			39		0	0	0.007835	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445222	99445222	+	Missense_Mutation	SNP	G	A	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	uc003ury.1	+	4	533	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CYP3A43_uc003urx.1_Missense_Mutation_p.E144K|CYP3A43_uc003urz.1_Missense_Mutation_p.E144K|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_5'UTR	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	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														68			29		0	0	0.006320	0	0
FAM184A	79632	broad.mit.edu	37	6	119301317	119301317	+	Missense_Mutation	SNP	C	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.chr6:119301317C>T	uc003pyj.3	-	9	2635	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FAM184A_uc003pyk.4_Missense_Mutation_p.E643K|FAM184A_uc003pyl.4_Missense_Mutation_p.E643K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	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														58			25		0	0	0.004656	0	0
TRIML2	205860	broad.mit.edu	37	4	189012789	189012789	+	Missense_Mutation	SNP	G	A	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	uc011cle.1	-	7	1349	c.1127C>T	c.(1126-1128)aCt>aTt	p.T376I	TRIML2_uc003izj.1_Missense_Mutation_p.T129I|TRIML2_uc003izk.1_Missense_Mutation_p.T109I|TRIML2_uc003izl.2_Missense_Mutation_p.T301I	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	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														134			54		0	0	0.014410	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403074	1403074	+	Missense_Mutation	SNP	G	A	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	uc003jck.3	-	12	1856	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	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														21			11		0	0	0.001855	0	0
CLC	1178	broad.mit.edu	37	19	40222125	40222125	+	Silent	SNP	G	A	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	uc002omh.3	-	3	401	c.324C>T	c.(322-324)tcC>tcT	p.S108S		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Homo sapiens Charcot-Leyden crystal protein (CLC), mRNA.	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														111			64		0	0	0.014410	0	0
PHRF1	57661	broad.mit.edu	37	11	597425	597425	+	Missense_Mutation	SNP	C	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.chr11:597425C>T	uc001lqe.3	+	7	880	c.749C>T	c.(748-750)tCc>tTc	p.S250F	PHRF1_uc010qwc.2_Missense_Mutation_p.S250F|PHRF1_uc010qwd.2_Missense_Mutation_p.S249F|PHRF1_uc010qwe.2_Missense_Mutation_p.S246F|PHRF1_uc009ybz.1_Missense_Mutation_p.S41F	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	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														27			4		0	0	0.000602	0	0
IPO5	3843	broad.mit.edu	37	13	98662177	98662177	+	Missense_Mutation	SNP	C	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.chr13:98662177C>T	uc001vne.3	+	18	2077	c.1897C>T	c.(1897-1899)Ctt>Ttt	p.L633F	IPO5_uc001vnf.1_Missense_Mutation_p.L615F|IPO5_uc010tik.1_Missense_Mutation_p.L490F|IPO5_uc010til.1_Missense_Mutation_p.L555F|IPO5_uc001vng.1_Missense_Mutation_p.L236F	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	615					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTGCAAAATCCTTGGAAAAGA	0.373000														22			3		0	0	0.004672	0	0
SLIT2	9353	broad.mit.edu	37	4	20598061	20598061	+	Missense_Mutation	SNP	C	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.chr4:20598061C>T	uc003gpr.1	+	31	3548	c.3344C>T	c.(3343-3345)cCa>cTa	p.P1115L	SLIT2_uc003gps.1_Missense_Mutation_p.P1107L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1115					Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.S1114Y(1)		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														48			14		0	0	0.003163	0	0
CRB2	286204	broad.mit.edu	37	9	126132428	126132428	+	Missense_Mutation	SNP	C	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.chr9:126132428C>T	uc004bnx.1	+	6	1188	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	CRB2_uc004bnw.1_Missense_Mutation_p.P366S	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	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														81			20		0	0	0.012319	0	0
PADI3	51702	broad.mit.edu	37	1	17607261	17607261	+	Silent	SNP	G	A	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	uc001bai.3	+	14	1771	c.1731G>A	c.(1729-1731)agG>agA	p.R577R		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	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														55			23		0	0	0.014323	0	0
SLC39A11	201266	broad.mit.edu	37	17	70644980	70644980	+	Silent	SNP	G	A	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	uc002jjb.3	-	8	1027	c.912C>T	c.(910-912)taC>taT	p.Y304Y	SLC39A11_uc002jja.3_Silent_p.Y297Y	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.	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														15			16		0	0	0.004990	0	0
DFNB31	25861	broad.mit.edu	37	9	117168831	117168831	+	Silent	SNP	G	A	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	uc004biy.4	-	8	1531	c.891C>T	c.(889-891)ttC>ttT	p.F297F	DFNB31_uc004bix.3_Silent_p.F329F|DFNB31_uc004biz.4_Silent_p.F680F|DFNB31_uc004bja.4_Silent_p.F680F	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	680	PDZ 2.				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														94			33		0	0	0.003755	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128650	3128650	+	Missense_Mutation	SNP	A	G	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	uc021vzx.1	-	0	1067	c.1067T>C	c.(1066-1068)tTa>tCa	p.L356S	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.L356S	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	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														36			58		0	0	0.014410	0	0
ITIH3	3699	broad.mit.edu	37	3	52836407	52836407	+	Missense_Mutation	SNP	G	A	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	uc003dfv.2	+	11	1477	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	ITIH3_uc011bek.1_Missense_Mutation_p.E481K	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	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														38			16		0	0	0.004990	0	0
TPTE	7179	broad.mit.edu	37	21	11014938	11014938	+	Splice_Site	SNP	C	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.chr21:11014938C>T	uc002yis.1	-	7		c.1508_splice	c.e7+1					P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						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)		AGCACAATACCTATCACATTG	0.323000														8			16		0	0	0.007413	0	0
ZNF185	7739	broad.mit.edu	37	X	152128322	152128322	+	Missense_Mutation	SNP	G	A	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	uc011myg.2	+	17	1630	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S	ZNF185_uc011myi.2_Missense_Mutation_p.G467S|ZNF185_uc011myj.2_Missense_Mutation_p.G437S|ZNF185_uc011myh.2_Missense_Mutation_p.G499S|ZNF185_uc011myk.2_Missense_Mutation_p.G497S|ZNF185_uc010ntv.2_Missense_Mutation_p.G496S|ZNF185_uc004fgw.4_Missense_Mutation_p.G275S|ZNF185_uc004fgu.3_Missense_Mutation_p.G125S|ZNF185_uc004fgv.3_Missense_Mutation_p.G193S|ZNF185_uc004fgx.3_Missense_Mutation_p.G134S	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	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														7			10		0	0	0.006214	0	0
G6PC2	57818	broad.mit.edu	37	2	169764539	169764539	+	Missense_Mutation	SNP	C	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.chr2:169764539C>T	uc002uem.3	+	4	1110	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Missense_Mutation_p.P224S	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	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	p.P340H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TGCTTTCATTCCCTACTCTGT	0.433000														88			39		0	0	0.006230	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451179	105451179	+	Missense_Mutation	SNP	C	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.chrX:105451179C>T	uc022cca.1	+	0	1754	c.1754C>T	c.(1753-1755)tCa>tTa	p.S585L	MUM1L1_uc004emg.2_Missense_Mutation_p.S585L|MUM1L1_uc004emf.2_Missense_Mutation_p.S585L	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	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														3			9		0	0	0.008291	0	0
ELFN2	114794	broad.mit.edu	37	22	37770430	37770430	+	Missense_Mutation	SNP	G	A	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	uc003asq.4	-	2	1931	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	ELFN2_uc021wph.1_Missense_Mutation_p.P382L	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	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														47			22		0	0	0.014323	0	0
ZAN	7455	broad.mit.edu	37	7	100369601	100369601	+	Nonsense_Mutation	SNP	C	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.chr7:100369601C>T	uc003uwj.3	+	28	5548	c.5383C>T	c.(5383-5385)Cag>Tag	p.Q1795*	ZAN_uc003uwk.3_Nonsense_Mutation_p.Q1795*|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Nonsense_Mutation_p.Q372*|ZAN_uc011kke.2_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1795					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														19			5		0	0	0.000602	0	0
PLCH1	23007	broad.mit.edu	37	3	155241724	155241724	+	Missense_Mutation	SNP	C	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.chr3:155241724C>T	uc021xge.1	-	9	1673	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	PLCH1_uc021xgd.1_Missense_Mutation_p.D466N|PLCH1_uc021xgf.1_Missense_Mutation_p.D448N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	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														78			37		0	0	0.007835	0	0
C1orf9	51430	broad.mit.edu	37	1	172558246	172558246	+	Missense_Mutation	SNP	C	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.chr1:172558246C>T	uc001giq.4	+	17	2321	c.2005C>T	c.(2005-2007)Cct>Tct	p.P669S	C1orf9_uc010pmm.1_Missense_Mutation_p.P669S|C1orf9_uc009wwd.3_Missense_Mutation_p.P625S|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	669					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		CTTACTACTTCCTGCGGAATC	0.418000														40			30		0	0	0.010818	0	0
FAM135A	57579	broad.mit.edu	37	6	71235823	71235823	+	Silent	SNP	C	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.chr6:71235823C>T	uc003pfj.3	+	12	3169	c.3036C>T	c.(3034-3036)atC>atT	p.I1012I	FAM135A_uc003pfi.3_Silent_p.I816I|FAM135A_uc003pfh.3_Silent_p.I799I|FAM135A_uc003pfl.3_Silent_p.I679I|FAM135A_uc003pfn.3_Silent_p.I218I|FAM135A_uc003pfo.1_Silent_p.I383I|FAM135A_uc010kan.2_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	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														49			15		0	0	0.003163	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57470617	57470617	+	Missense_Mutation	SNP	G	A	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	uc002ell.1	-	3	509	c.338C>T	c.(337-339)tCt>tTt	p.S113F	CIAPIN1_uc002elm.1_Missense_Mutation_p.S100F|CIAPIN1_uc010vhm.1_Missense_Mutation_p.S113F	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN	Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA.	113					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ACACAGCTTAGATGCTGTCTT	0.388000														29			18		0	0	0.007413	0	0
HSD3B7	80270	broad.mit.edu	37	16	30997842	30997842	+	Missense_Mutation	SNP	C	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.chr16:30997842C>T	uc002eaf.2	+	3	527	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	HSD3B7_uc010cac.2_Missense_Mutation_p.P141S|HSD3B7_uc002eag.2_Missense_Mutation_p.P141S|HSD3B7_uc002eah.2_Missense_Mutation_p.P141S	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	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														31			14		0	0	0.001855	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222545	118222545	+	Missense_Mutation	SNP	C	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.chrX:118222545C>T	uc004era.4	-	10	2648	c.2648G>A	c.(2647-2649)gGa>gAa	p.G883E		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	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														9			16		0	0	0.004007	0	0
PRDM11	56981	broad.mit.edu	37	11	45117445	45117445	+	Missense_Mutation	SNP	G	A	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	uc001myo.3	+	1	338	c.89G>A	c.(88-90)aGa>aAa	p.R30K		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	30										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ctttaccagagagagaaagta	0.488000														29			22		0	0	0.010504	0	0
ECEL1	9427	broad.mit.edu	37	2	233349193	233349193	+	Silent	SNP	G	A	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	uc002vsv.2	-	5	1378	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	ECEL1_uc010fya.1_Silent_p.S391S|ECEL1_uc010fyb.1_Silent_p.S98S	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	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														99			81		0	0	0.014410	0	0
HCN2	610	broad.mit.edu	37	19	603592	603592	+	Silent	SNP	C	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.chr19:603592C>T	uc002lpe.3	+	1	734	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	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														28			22		0	0	0.014323	0	0
ZNF385B	151126	broad.mit.edu	37	2	180308074	180308074	+	Missense_Mutation	SNP	G	A	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	uc002unn.4	-	9	1923	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L	ZNF385B_uc002unj.3_Missense_Mutation_p.S338L|ZNF385B_uc002unl.3_Missense_Mutation_p.S337L|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.S364L	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	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														26			17		0	0	0.004990	0	0
COL22A1	169044	broad.mit.edu	37	8	139774709	139774709	+	Splice_Site	SNP	C	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.chr8:139774709C>T	uc003yvd.3	-	17	2251	c.1804_splice	c.e17-1	p.G602_splice	COL22A1_uc011ljo.2_5'Flank	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	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)				12			34		0	0	0.003271	0	0
AARS	16	broad.mit.edu	37	16	70288564	70288564	+	Missense_Mutation	SNP	G	A	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	uc002eyn.1	-	16	2470	c.2360C>T	c.(2359-2361)cCa>cTa	p.P787L	EXOSC6_uc002eym.1_5'Flank|AARS_uc010vlu.1_Missense_Mutation_p.P617L	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	787					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|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														39			24		0	0	0.007291	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	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.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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)	TCGAGATTTCACTGTAGCTAGA	0.366000	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)|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					35			17		0	0	0.004672	0	0
RGS6	9628	broad.mit.edu	37	14	72944999	72944999	+	Silent	SNP	C	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.chr14:72944999C>T	uc001xna.4	+	11	1339	c.816C>T	c.(814-816)atC>atT	p.I272I	RGS6_uc021rvv.1_Silent_p.I237I|RGS6_uc010ttn.2_Silent_p.I272I|RGS6_uc021rvw.1_Silent_p.I272I|RGS6_uc021rvx.1_Silent_p.I272I|RGS6_uc021rvy.1_Silent_p.I272I|RGS6_uc021rvz.1_Silent_p.I272I|RGS6_uc001xmy.4_Silent_p.I272I|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.I272I|RGS6_uc021rwa.1_Silent_p.I272I|RGS6_uc021rwb.1_Silent_p.I272I|RGS6_uc010ttp.1_Silent_p.I203I|RGS6_uc021rwc.1_Silent_p.I133I	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	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														22			7		0	0	0.001984	0	0
KCNB1	3745	broad.mit.edu	37	20	47991437	47991437	+	Silent	SNP	G	A	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	uc002xur.1	-	1	826	c.660C>T	c.(658-660)ttC>ttT	p.F220F	KCNB1_uc002xus.1_Silent_p.F220F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	220					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.F220L(2)		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														58			19		0	0	0.010504	0	0
CHD3	1107	broad.mit.edu	37	17	7806015	7806015	+	Silent	SNP	C	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.chr17:7806015C>T	uc002gjd.2	+	20	3519	c.3517C>T	c.(3517-3519)Ctg>Ttg	p.L1173L	CHD3_uc002gje.2_Silent_p.L1114L|CHD3_uc002gjf.2_Silent_p.L1114L|CHD3_uc002gjh.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1114	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	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														38			28		0	0	0.005443	0	0
ZNF324	25799	broad.mit.edu	37	19	58983100	58983100	+	Missense_Mutation	SNP	A	G	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	uc002qsw.2	+	3	1386	c.1241A>G	c.(1240-1242)aAg>aGg	p.K414R		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	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														25			8		0	0	0.004482	0	0
AADAC	13	broad.mit.edu	37	3	151535223	151535223	+	Missense_Mutation	SNP	G	A	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	uc003eze.3	+	1	298	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	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														41			20		0	0	0.007413	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303613	7303613	+	Silent	SNP	G	A	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	uc001qss.3	+	14	3055	c.2517G>A	c.(2515-2517)ccG>ccA	p.P839P	CLSTN3_uc001qsr.3_Silent_p.P827P	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	827					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum 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														6			11		0	0	0.013537	0	0
MYOCD	93649	broad.mit.edu	37	17	12639597	12639597	+	Missense_Mutation	SNP	C	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.chr17:12639597C>T	uc002gno.2	+	5	834	c.535C>T	c.(535-537)Ccg>Tcg	p.P179S	MYOCD_uc002gnn.2_Missense_Mutation_p.P179S|MYOCD_uc002gnp.1_Missense_Mutation_p.P83S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	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	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.P179T(3)|p.P179P(1)		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														65			24		0	0	0.003954	0	0
GDPD4	220032	broad.mit.edu	37	11	76940248	76940248	+	Silent	SNP	G	A	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	uc001oyf.3	-	13	1670	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	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														8			14		0	0	0.004007	0	0
PRPF4B	8899	broad.mit.edu	37	6	4057321	4057321	+	Missense_Mutation	SNP	C	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.chr6:4057321C>T	uc003mvv.3	+	12	2724	c.2633C>T	c.(2632-2634)aCc>aTc	p.T878I	PRPF4B_uc003mvw.3_Non-coding_Transcript|FAM217A_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	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														79			40		0	0	0.009718	0	0
SPDYA	245711	broad.mit.edu	37	2	29063268	29063269	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:29063268_29063269GG>AA	uc002rmj.3	+	6	989_990	c.783_784GG>AA	c.(781-786)caggac>caAAac	p.D262N	SPDYA_uc002rmi.3_Missense_Mutation_p.D262N|SPDYA_uc002rmk.3_Missense_Mutation_p.D262N|SPDYA_uc002rml.3_Missense_Mutation_p.D262N	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	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)					AACATTCTCAGGACTCATACAA	0.366000														35			30		0	0	0.004672	0	0
CCBL1	883	broad.mit.edu	37	9	131600339	131600339	+	Silent	SNP	G	A	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	uc004bwh.3	-	4	614	c.429C>T	c.(427-429)tcC>tcT	p.S143S	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Silent_p.S143S|CCBL1_uc004bwj.3_Silent_p.S93S|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Silent_p.S237S	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	143					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase 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														118			98		0	0	0.014410	0	0
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	G	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	uc009wgu.3	-	1	291	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	13			G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		Ras protein signal transduction|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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G12D(379)|p.G13D(192)|p.G13R(152)|p.G12S(135)|p.G12C(84)|p.G12V(60)|p.G13V(57)|p.G13C(46)|p.G12A(42)|p.G12R(18)|p.G13A(16)|p.G13S(10)|p.G12G(4)|p.G13G(3)|p.G13N(2)|p.G13Y(2)|p.G12N(2)|p.G12?(1)|p.G12E(1)|p.G12T(1)|p.G12P(1)|p.G12Y(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)				67			37		0	0	0.014410	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260627	42260627	+	Missense_Mutation	SNP	C	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.chr19:42260627C>T	uc002orm.2	+	1	333	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	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														93			58		0	0	0.014410	0	0
SWI5	375757	broad.mit.edu	37	9	131038524	131038524	+	Missense_Mutation	SNP	C	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.chr9:131038524C>T	uc004bup.3	+	0	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.P34S	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	34					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCCGGCTTTCCTTGGGTGCG	0.682000														18			11		0	0	0.008291	0	0
SLC9A2	6549	broad.mit.edu	37	2	103318936	103318936	+	Missense_Mutation	SNP	G	A	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	uc002tca.3	+	8	1962	c.1820G>A	c.(1819-1821)aGa>aAa	p.R607K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	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														51			43		0	0	0.010771	0	0
CHGA	1113	broad.mit.edu	37	14	93393935	93393935	+	Silent	SNP	G	A	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	uc001ybc.4	+	3	488	c.228G>A	c.(226-228)ctG>ctA	p.L76L	CHGA_uc001ybd.4_Silent_p.L76L	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	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														146			81		0	0	0.014410	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822029	93822029	+	Missense_Mutation	SNP	G	A	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	uc001pep.2	+	11	2346	c.2189G>A	c.(2188-2190)gGg>gAg	p.G730E	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	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														55			6		0	0	0.001168	0	0
GRK6	2870	broad.mit.edu	37	5	176859722	176859722	+	Missense_Mutation	SNP	C	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.chr5:176859722C>T	uc021yit.1	+	4	515	c.355C>T	c.(355-357)Cct>Tct	p.P119S	GRK6_uc003mgq.2_Missense_Mutation_p.P119S|GRK6_uc021yiu.1_Missense_Mutation_p.P119S|GRK6_uc003mgs.1_Missense_Mutation_p.P89S	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	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														9			3		0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82764658	82764658	+	Silent	SNP	T	C	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	uc003uhx.2	-	2	2497	c.2208A>G	c.(2206-2208)aaA>aaG	p.K736K	PCLO_uc003uhv.2_Silent_p.K736K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	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														45			19		0	0	0.006122	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571801	47571801	+	Splice_Site	SNP	G	A	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	uc001cqu.1	+	9	1071	c.1068_splice	c.e9-1	p.W356_splice		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	356						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														63			29		0	0	0.003271	0	0
COL21A1	81578	broad.mit.edu	37	6	56035873	56035873	+	Missense_Mutation	SNP	C	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.chr6:56035873C>T	uc003pcs.3	-	3	926	c.694G>A	c.(694-696)Gat>Aat	p.D232N	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.D232N|COL21A1_uc003pcu.1_Missense_Mutation_p.D232N	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	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														81			30		0	0	0.006320	0	0
PAK3	5063	broad.mit.edu	37	X	110439090	110439090	+	Silent	SNP	C	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.chrX:110439090C>T	uc010npv.1	+	12	1266	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	PAK3_uc010npt.1_Silent_p.F377F|PAK3_uc010npu.1_Silent_p.F377F|PAK3_uc004eoy.1_Silent_p.F132F|PAK3_uc004eoz.2_Silent_p.F377F|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Silent_p.F398F|PAK3_uc004epa.2_Silent_p.F392F	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	392	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			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)				25			42		0	0	0.013114	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715972	68715972	+	Missense_Mutation	SNP	C	T	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	uc003jwq.3	+	1	834	c.760C>T	c.(760-762)Cct>Tct	p.P254S	MARVELD2_uc010ixf.3_Missense_Mutation_p.P254S|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	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														50			17		0	0	0.004990	0	0
MLPH	79083	broad.mit.edu	37	2	238449122	238449122	+	Missense_Mutation	SNP	G	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.chr2:238449122G>T	uc002vwt.3	+	9	1463	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	MLPH_uc002vws.3_Missense_Mutation_p.K269N|MLPH_uc010fyt.1_Missense_Mutation_p.K384N|MLPH_uc002vwu.3_Missense_Mutation_p.K384N|MLPH_uc002vwv.3_Missense_Mutation_p.K344N|MLPH_uc002vww.3_Missense_Mutation_p.K360N|MLPH_uc002vwx.3_Missense_Mutation_p.K268N	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	412							metal ion binding	p.K412N(2)		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														14			15		1.05317e-09	1.57397e-09	0.002450	1	0
MUC17	140453	broad.mit.edu	37	7	100679474	100679474	+	Missense_Mutation	SNP	C	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.chr7:100679474C>T	uc003uxp.1	+	2	4830	c.4777C>T	c.(4777-4779)Ctt>Ttt	p.L1593F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	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														143			63		0	0	0.014410	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630333	43630334	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr1:43630333_43630334GG>AA	uc010ojx.2	-	8	1164_1165	c.1015_1016CC>TT	c.(1015-1017)cct>TTt	p.P339F	EBNA1BP2_uc001cio.3_Missense_Mutation_p.P339F|EBNA1BP2_uc001cin.3_Missense_Mutation_p.P284F	NM_001159936	NP_006815	Q99848	EBP2_HUMAN	Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 1, mRNA.	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)				TTTCTTGCCAGGCCTCTTGAGG	0.569000														58			26		0	0	0.004672	0	0
NBEAL2	23218	broad.mit.edu	37	3	47033334	47033334	+	Silent	SNP	C	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.chr3:47033334C>T	uc003cqp.3	+	8	1109	c.930C>T	c.(928-930)gcC>gcT	p.A310A	NBEAL2_uc003cqq.1_Silent_p.A303A	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	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														5			3		0	0	0.009096	0	0
HDC	3067	broad.mit.edu	37	15	50544901	50544901	+	Silent	SNP	G	A	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	uc001zxz.3	-	7	1200	c.858C>T	c.(856-858)ttC>ttT	p.F286F	HDC_uc001zxy.3_Silent_p.F29F|HDC_uc010uff.2_Silent_p.F286F	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	286					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.E285K(1)		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														29			15		0	0	0.004007	0	0
STK24	8428	broad.mit.edu	37	13	99171631	99171631	+	Nonsense_Mutation	SNP	G	A	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	uc001vnm.1	-	1	410	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	STK24_uc001vnn.1_Nonsense_Mutation_p.Q47*|STK24_uc010tim.1_Nonsense_Mutation_p.Q47*	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	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														91			112		0	0	0.014410	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64633651	64633651	+	Missense_Mutation	SNP	G	A	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	uc003dmg.3	-	10	1707	c.1675C>T	c.(1675-1677)Ccc>Tcc	p.P559S	ADAMTS9_uc011bfo.2_Missense_Mutation_p.P531S|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P388S|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P559S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	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														401			165		0	0	0.014410	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967326	133967326	+	Missense_Mutation	SNP	G	A	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	uc001lkx.4	+	16	2131	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	JAKMIP3_uc009yba.1_Missense_Mutation_p.E148K	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											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														44			96		0	0	0.014410	0	0
HCN2	610	broad.mit.edu	37	19	615813	615813	+	Missense_Mutation	SNP	T	G	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	uc002lpe.3	+	7	2062	c.2009T>G	c.(2008-2010)cTc>cGc	p.L670R		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	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														36			8		0	0	0.004482	0	0
RHOT2	89941	broad.mit.edu	37	16	723122	723122	+	Silent	SNP	C	G	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	uc002cip.3	+	17	1839	c.1722C>G	c.(1720-1722)gcC>gcG	p.A574A	RHOT2_uc002ciq.3_Silent_p.A467A|RHOT2_uc010bqy.3_Silent_p.A353A|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank|RHBDL1_uc002cis.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	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	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCACCATGGCCGCCTTCCCGT	0.662000														18			10		0	0	0.006214	0	0
C18orf62	284274	broad.mit.edu	37	18	73130764	73130764	+	Silent	SNP	T	C	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	uc002lma.1	-	1	308	c.237A>G	c.(235-237)aaA>aaG	p.K79K	C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	79						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		tgttggcccttttccagtctt	0.368000														66			37		0	0	0.009718	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999149	27999149	+	Silent	SNP	C	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.chrX:27999149C>T	uc004dbx.1	-	0	418	c.303G>A	c.(301-303)gaG>gaA	p.E101E		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	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														13			33		0	0	0.003271	0	0
CD1B	910	broad.mit.edu	37	1	158298804	158298804	+	Splice_Site	SNP	C	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.chr1:158298804C>T	uc001frx.3	-	5	995	c.887_splice	c.e5-1	p.R296_splice	CD1B_uc001frw.3_Splice_Site_p.G241_splice	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	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														41			16		0	0	0.003163	0	0
EVPL	2125	broad.mit.edu	37	17	74004881	74004881	+	Missense_Mutation	SNP	C	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.chr17:74004881C>T	uc010wss.1	-	21	4699	c.4471G>A	c.(4471-4473)Gag>Aag	p.E1491K	EVPL_uc002jqi.2_Missense_Mutation_p.E1469K|EVPL_uc010wst.1_Missense_Mutation_p.E939K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	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														73			72		0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196786857	196786857	+	Missense_Mutation	SNP	T	A	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	uc002utj.4	-	23	3991	c.3890A>T	c.(3889-3891)aAt>aTt	p.N1297I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	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														25			12		0	0	0.003163	0	0
URB2	9816	broad.mit.edu	37	1	229771572	229771572	+	Silent	SNP	C	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.chr1:229771572C>T	uc001hts.1	+	3	1348	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	URB2_uc009xfd.1_Silent_p.P404P	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	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														40			23		0	0	0.002780	0	0
CCNB3	85417	broad.mit.edu	37	X	50051948	50051948	+	Missense_Mutation	SNP	C	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.chrX:50051948C>T	uc004dox.4	+	5	1077	c.779C>T	c.(778-780)tCc>tTc	p.S260F	CCNB3_uc004doy.3_Missense_Mutation_p.S260F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	260					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	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														19			36		0	0	0.003755	0	0
MICALL1	85377	broad.mit.edu	37	22	38320719	38320719	+	Silent	SNP	C	T	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	uc003aui.3	+	6	1352	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	359	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.P358S(1)		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														37			26		0	0	0.007291	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120032	103120032	+	Silent	SNP	C	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.chr2:103120032C>T	uc002tbz.4	+	2	1303	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	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														30			27		0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9060196	9060196	+	Missense_Mutation	SNP	C	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.chr19:9060196C>T	uc002mkp.3	-	2	27454	c.27250G>A	c.(27250-27252)Ggt>Agt	p.G9084S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	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														61			39		0	0	0.009718	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47611094	47611094	+	Missense_Mutation	SNP	G	C	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	uc002xtx.4	+	21	3232	c.3080G>C	c.(3079-3081)gGc>gCc	p.G1027A	ARFGEF2_uc010zyf.2_Missense_Mutation_p.G320A	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1027					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	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														56			9		0	0	0.004482	0	0
SI	6476	broad.mit.edu	37	3	164755734	164755734	+	Missense_Mutation	SNP	C	T	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	uc003fei.3	-	20	2443	c.2380G>A	c.(2380-2382)Ggt>Agt	p.G794S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	794	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)				22			9		0	0	0.010729	0	0
FAM190A	401145	broad.mit.edu	37	4	91229576	91229576	+	Silent	SNP	C	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.chr4:91229576C>T	uc003hsv.4	+	1	481	c.141C>T	c.(139-141)tcC>tcT	p.S47S	FAM190A_uc003hsu.3_Silent_p.S47S|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Silent_p.S47S	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	47	Ser-rich.									NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTCTCCTTCCAGCACTAACT	0.453000														30			15		0	0	0.003163	0	0
IGLON5	402665	broad.mit.edu	37	19	51832013	51832013	+	Silent	SNP	G	A	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	uc002pwc.2	+	7	1011	c.1011G>A	c.(1009-1011)taG>taA	p.*337*		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	Homo sapiens IgLON family member 5 (IGLON5), mRNA.	0						extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						GGAGAATGTAGGCGCAACCCA	0.682000														4			3		0	0	0.009096	0	0
PROKR1	10887	broad.mit.edu	37	2	68882249	68882249	+	Silent	SNP	C	T	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	uc010yqj.2	+	1	883	c.723C>T	c.(721-723)ttC>ttT	p.F241F	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	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														58			44		0	0	0.010771	0	0
PSMB8	5696	broad.mit.edu	37	6	32809404	32809404	+	Missense_Mutation	SNP	G	A	A	rs146956608		TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr6:32809404G>A	uc003oce.3	-	4	689	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.3_5'Flank|PSMB8_uc003ocf.3_Missense_Mutation_p.R212W|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	216					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	p.R212W(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						AGATTAGGCCGATAGCCACTG	0.512000														150			63		0	0	0.014410	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958927	51958927	+	Missense_Mutation	SNP	C	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.chr19:51958927C>T	uc002pwt.3	-	3	863	c.796G>A	c.(796-798)Gga>Aga	p.G266R	SIGLEC8_uc010yda.2_Missense_Mutation_p.G157R|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.G173R	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	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														35			17		0	0	0.007413	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999147	27999147	+	Missense_Mutation	SNP	T	C	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	uc004dbx.1	-	0	420	c.305A>G	c.(304-306)gAg>gGg	p.E102G		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	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														12			31		0	0	0.010818	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899797	112899797	+	Missense_Mutation	SNP	T	C	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	uc004bei.2	+	8	2861	c.2669T>C	c.(2668-2670)tTa>tCa	p.L890S	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.L658S|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.L658S|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.L468S|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.L516S|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.L516S|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.L476S|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.L427S|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.L427S	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	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														72			42		0	0	0.011902	0	0
TMEM167B	56900	broad.mit.edu	37	1	109635608	109635608	+	Missense_Mutation	SNP	C	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.chr1:109635608C>T	uc001dwn.3	+	1	199	c.107C>T	c.(106-108)tCa>tTa	p.S36L	TMEM167B_uc009weu.3_Intron	NM_020141	NP_064526	Q9NRX6	KISHB_HUMAN	Homo sapiens transmembrane protein 167B (TMEM167B), mRNA.	36						Golgi membrane|integral to membrane				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						TGGCTGCTATCAGAGAAGAAG	0.483000														257			127		0	0	0.014410	0	0
SPAG17	200162	broad.mit.edu	37	1	118558710	118558710	+	Missense_Mutation	SNP	G	A	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	uc001ehk.2	-	28	4233	c.4165C>T	c.(4165-4167)Cac>Tac	p.H1389Y		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	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														51			41		0	0	0.005524	0	0
ZNF141	7700	broad.mit.edu	37	4	367299	367299	+	Missense_Mutation	SNP	A	G	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	uc003gaa.2	+	3	1250	c.1073A>G	c.(1072-1074)aAg>aGg	p.K358R	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	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														25			6		0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167055717	167055717	+	Missense_Mutation	SNP	G	A	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	uc010fpl.3	-	26	5740	c.5399C>T	c.(5398-5400)cCt>cTt	p.P1800L	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	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														101			39		0	0	0.008740	0	0
FAM75C1	441452	broad.mit.edu	37	9	90534220	90534220	+	Silent	SNP	G	A	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	uc010mqi.3	+	1	269	c.240G>A	c.(238-240)cgG>cgA	p.R80R	FAM75C1_uc004apq.4_Silent_p.R63R	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CAACAGGGCGGAGGGGGAGGC	0.572000														94			27		0	0	0.008361	0	0
PHRF1	57661	broad.mit.edu	37	11	607444	607444	+	Missense_Mutation	SNP	C	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.chr11:607444C>T	uc001lqe.3	+	13	2119	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	PHRF1_uc010qwc.2_Missense_Mutation_p.P662L|PHRF1_uc010qwd.2_Missense_Mutation_p.P661L|PHRF1_uc010qwe.2_Missense_Mutation_p.P659L|PHRF1_uc009ybz.1_Missense_Mutation_p.P453L|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	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														103			15		0	0	0.003163	0	0
HYDIN	54768	broad.mit.edu	37	16	70889118	70889118	+	Missense_Mutation	SNP	G	A	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	uc002ezr.3	-	72	12504	c.12353C>T	c.(12352-12354)tCc>tTc	p.S4118F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	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														14			30		0	0	0.004878	0	0
OR2J3	442186	broad.mit.edu	37	6	29079670	29079670	+	Missense_Mutation	SNP	G	A	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	uc011dll.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	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														63			64		0	0	0.014410	0	0
COL2A1	1280	broad.mit.edu	37	12	48368481	48368481	+	Missense_Mutation	SNP	C	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.chr12:48368481C>T	uc001rqu.3	-	51	4232	c.4051G>A	c.(4051-4053)Gaa>Aaa	p.E1351K	COL2A1_uc001rqt.3_Missense_Mutation_p.E132K|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.E1282K	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	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														106			41		0	0	0.013114	0	0
CNTN5	53942	broad.mit.edu	37	11	99690287	99690287	+	Missense_Mutation	SNP	C	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.chr11:99690287C>T	uc001pga.3	+	3	572	c.68C>T	c.(67-69)tCt>tTt	p.S23F	CNTN5_uc009ywv.2_Missense_Mutation_p.S23F|CNTN5_uc001pfz.3_Missense_Mutation_p.S23F|CNTN5_uc021qpb.1_Missense_Mutation_p.S23F|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	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														53			22		0	0	0.003330	0	0
SDK2	54549	broad.mit.edu	37	17	71410896	71410896	+	Missense_Mutation	SNP	G	A	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	uc010dfm.3	-	17	2371	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	SDK2_uc010dfn.2_Missense_Mutation_p.P470S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	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														30			14		0	0	0.004007	0	0
INTS7	25896	broad.mit.edu	37	1	212208753	212208753	+	Silent	SNP	G	A	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	uc001hiw.2	-	0	250	c.27C>T	c.(25-27)ttC>ttT	p.F9F	INTS7_uc001hix.2_5'UTR|INTS7_uc009xdb.2_Silent_p.F9F|INTS7_uc001hiy.2_Silent_p.F9F|INTS7_uc010pta.2_Silent_p.F9F|DTL_uc009xdc.3_5'Flank|DTL_uc010ptb.2_5'Flank|DTL_uc001hiz.4_5'Flank	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	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)		42			20		0	0	0.002780	0	0
OVOL2	58495	broad.mit.edu	37	20	18022346	18022346	+	Missense_Mutation	SNP	C	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.chr20:18022346C>T	uc002wqi.1	-	2	586	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA.	115					negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|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														23			26		0	0	0.006320	0	0
DENND4C	55667	broad.mit.edu	37	9	19346438	19346438	+	Missense_Mutation	SNP	C	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.chr9:19346438C>T	uc003znq.3	+	17	2896	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	DENND4C_uc011lnc.2_Missense_Mutation_p.S269F|DENND4C_uc011lnd.2_Missense_Mutation_p.S227F|DENND4C_uc003znr.3_Missense_Mutation_p.S227F|DENND4C_uc003zns.3_Missense_Mutation_p.S121F|DENND4C_uc003znt.3_Missense_Mutation_p.S121F	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	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														41			16		0	0	0.006122	0	0
CENPF	1063	broad.mit.edu	37	1	214816342	214816342	+	Missense_Mutation	SNP	C	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.chr1:214816342C>T	uc001hkm.3	+	11	4835	c.4661C>T	c.(4660-4662)tCc>tTc	p.S1554F		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1650	2 X 96 AA approximate tandem repeats.		Missing.		DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|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	p.E1553K(1)		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														34			20		0	0	0.010504	0	0
KCNH7	90134	broad.mit.edu	37	2	163360984	163360984	+	Missense_Mutation	SNP	C	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.chr2:163360984C>T	uc002uch.2	-	5	1326	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	KCNH7_uc002uci.3_Missense_Mutation_p.R359Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	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														85			48		0	0	0.014410	0	0
OR2T34	127068	broad.mit.edu	37	1	248737184	248737184	+	Missense_Mutation	SNP	G	A	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.chr1:248737184G>A	uc001iep.1	-	0	875	c.875C>T	c.(874-876)cCc>cTc	p.P292L		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	292					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)			GTAAATGAGGGGGTTCAGCAC	0.488000														23			6		0	0	0.001855	0	0
TMEM131	23505	broad.mit.edu	37	2	98377312	98377313	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr2:98377312_98377313CC>TT	uc002syh.4	-	36	5183_5184	c.4954_4955GG>AA	c.(4954-4956)ggc>AAc	p.G1652N	TMEM131_uc002syg.3_Missense_Mutation_p.G32N	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	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						GCCGTTCTTGCCCGGGAGCGAG	0.530000														46			44		0	0	0.004672	0	0
RPTN	126638	broad.mit.edu	37	1	152127263	152127263	+	Missense_Mutation	SNP	C	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.chr1:152127263C>T	uc001ezs.1	-	2	2377	c.2312G>A	c.(2311-2313)cGa>cAa	p.R771Q		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	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														256			154		0	0	0.014410	0	0
CTNND2	1501	broad.mit.edu	37	5	11117571	11117571	+	Silent	SNP	G	A	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	uc003jfa.1	-	12	2413	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	CTNND2_uc010itt.2_Silent_p.I665I|CTNND2_uc011cmy.1_Silent_p.I419I|CTNND2_uc011cmz.1_Silent_p.I323I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I323I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	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(8)		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														117			59		0	0	0.014410	0	0
TRPM4	54795	broad.mit.edu	37	19	49686006	49686006	+	Nonsense_Mutation	SNP	C	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.chr19:49686006C>T	uc002pmw.3	+	10	1543	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	TRPM4_uc010emu.3_Nonsense_Mutation_p.Q479*|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Nonsense_Mutation_p.Q305*|TRPM4_uc010emv.3_Nonsense_Mutation_p.Q364*|TRPM4_uc010yal.2_Nonsense_Mutation_p.Q125*|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	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	Golgi apparatus|endoplasmic reticulum|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														23			15		0	0	0.003163	0	0
YEATS2	55689	broad.mit.edu	37	3	183469919	183469919	+	Missense_Mutation	SNP	C	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.chr3:183469919C>T	uc003fly.2	+	9	1223	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	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														65			34		0	0	0.004289	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501864	90501865	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NC-06A-11D-A197-08	TCGA-ER-A2NC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9311f745-0a8f-40d4-af40-de42157e51bf	1f1ed143-f6c2-4b1f-90ba-059a30ed53fa	g.chr9:90501864_90501865CC>TT	uc004app.4	+	3	2497_2498	c.2462_2463CC>TT	c.(2461-2463)tcc>tTT	p.S821F	FAM75E1_uc004apo.1_Missense_Mutation_p.S633F	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	821						integral to membrane											GTGAACACCTCCCAGGAGCTTT	0.569000														40			22		0	0	0.004672	0	0
DNAH2	146754	broad.mit.edu	37	17	7671322	7671322	+	Missense_Mutation	SNP	G	A	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	uc002giu.1	+	21	3794	c.3780G>A	c.(3778-3780)atG>atA	p.M1260I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	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														26			22		0	0	0.012319	0	0
ZNF280D	54816	broad.mit.edu	37	15	56946417	56946417	+	Missense_Mutation	SNP	G	A	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	uc002adu.3	-	18	2409	c.2192C>T	c.(2191-2193)cCa>cTa	p.P731L	ZNF280D_uc002adv.3_Missense_Mutation_p.P718L|ZNF280D_uc010bfq.3_Missense_Mutation_p.P731L|ZNF280D_uc002adw.1_Intron|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	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														62			24		0	0	0.005443	0	0
PARP9	83666	broad.mit.edu	37	3	122274779	122274779	+	Missense_Mutation	SNP	G	A	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	uc010hri.3	-	3	489	c.344C>T	c.(343-345)aCt>aTt	p.T115I	PARP9_uc003eff.4_Missense_Mutation_p.T80I|PARP9_uc011bjs.2_Missense_Mutation_p.T80I|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.T80I|PARP9_uc003efh.3_Missense_Mutation_p.T115I|PARP9_uc003efj.2_Missense_Mutation_p.T80I	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	115	Macro 1.				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														25			15		0	0	0.002450	0	0
STK17A	9263	broad.mit.edu	37	7	43663441	43663441	+	Missense_Mutation	SNP	G	C	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	uc003tih.3	+	5	1025	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	C7orf44_uc003tij.3_Intron|C7orf44_uc010kxu.2_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	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														47			10		0	0	0.001855	0	0
LMOD3	56203	broad.mit.edu	37	3	69168818	69168818	+	Missense_Mutation	SNP	C	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.chr3:69168818C>T	uc003dns.2	-	1	897	c.688G>A	c.(688-690)Gta>Ata	p.V230I	LMOD3_uc003dnt.2_Missense_Mutation_p.V230I	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	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														61			55		0	0	0.014410	0	0
OAS3	4940	broad.mit.edu	37	12	113386766	113386766	+	Missense_Mutation	SNP	C	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.chr12:113386766C>T	uc001tug.3	+	5	1217	c.1130C>T	c.(1129-1131)cCa>cTa	p.P377L		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	377	Linker.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCTGTGTACCCAAGAGCAGGG	0.612000														12			8		0	0	0.003080	0	0
CSMD1	64478	broad.mit.edu	37	8	2815219	2815219	+	Splice_Site	SNP	T	C	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	uc022aqr.1	-	63	10204	c.9814_splice	c.e63+1	p.P3272_splice	CSMD1_uc011kwj.2_Splice_Site_p.P2602_splice|CSMD1_uc010lrg.3_Splice_Site_p.P1164_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3273	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														4			6		0	0	0.001984	0	0
CD163L1	283316	broad.mit.edu	37	12	7527907	7527907	+	Missense_Mutation	SNP	G	A	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	uc010sge.2	-	10	3027	c.3001C>T	c.(3001-3003)Cat>Tat	p.H1001Y	CD163L1_uc001qsy.3_Missense_Mutation_p.H991Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	991						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														21			9		0	0	0.004482	0	0
SCN3A	6328	broad.mit.edu	37	2	166012399	166012399	+	Missense_Mutation	SNP	C	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.chr2:166012399C>T	uc002ucx.3	-	9	1538	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	SCN3A_uc002ucy.3_Missense_Mutation_p.G349E|SCN3A_uc002ucz.3_Missense_Mutation_p.G349E|SCN3A_uc002uda.1_Missense_Mutation_p.G218E|SCN3A_uc002udb.1_Missense_Mutation_p.G218E	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	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														78			28		0	0	0.010818	0	0
CPO	130749	broad.mit.edu	37	2	207814409	207814409	+	Missense_Mutation	SNP	C	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.chr2:207814409C>T	uc002vby.2	+	1	183	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	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														64			15		0	0	0.004990	0	0
OR4K14	122740	broad.mit.edu	37	14	20482618	20482618	+	Silent	SNP	G	A	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	uc010tky.2	-	0	735	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	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														12			4		0	0	0.009096	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166648	19166648	+	Silent	SNP	G	A	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	uc001bba.1	-	5	1966	c.1965C>T	c.(1963-1965)atC>atT	p.I655I		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	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														101			54		0	0	0.014410	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795577	69795577	+	Missense_Mutation	SNP	G	A	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	uc003hef.2	-	5	1569	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	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														21			9		0	0	0.004482	0	0
DDR1	780	broad.mit.edu	37	6	30858825	30858825	+	Missense_Mutation	SNP	C	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.chr6:30858825C>T	uc003nrv.3	+	3	535	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	DDR1_uc010jse.3_Missense_Mutation_p.R165C|DDR1_uc003nrq.3_Missense_Mutation_p.R165C|DDR1_uc003nrr.3_Missense_Mutation_p.R165C|DDR1_uc003nrs.3_Missense_Mutation_p.R165C|DDR1_uc003nrt.3_Missense_Mutation_p.R165C|DDR1_uc011dms.2_Missense_Mutation_p.R183C|DDR1_uc011dmt.2_Missense_Mutation_p.R191C|DDR1_uc003nru.3_Missense_Mutation_p.R165C|DDR1_uc011dmu.1_Missense_Mutation_p.R165C|DDR1_uc003nry.2_Missense_Mutation_p.R165C|DDR1_uc003nrx.2_Missense_Mutation_p.R165C|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	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														70			28		0	0	0.008361	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671143	131671143	+	Missense_Mutation	SNP	T	C	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	uc004bwl.4	+	2	1954	c.1700T>C	c.(1699-1701)gTg>gCg	p.V567A	LRRC8A_uc010myp.3_Missense_Mutation_p.V567A|LRRC8A_uc010myq.3_Missense_Mutation_p.V567A	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	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														47			3		0	0	0.004672	0	0
C2CD2	25966	broad.mit.edu	37	21	43338986	43338986	+	Silent	SNP	G	A	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	uc002yzw.3	-	3	818	c.576C>T	c.(574-576)atC>atT	p.I192I	C2CD2_uc002yzu.3_Silent_p.I24I|C2CD2_uc002yzv.3_Silent_p.I37I|C2CD2_uc002yzx.1_Silent_p.I37I	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	192						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTTTGGGCTGGATATTAACGG	0.483000														21			51		0	0	0.014410	0	0
PSTK	118672	broad.mit.edu	37	10	124742977	124742977	+	Missense_Mutation	SNP	C	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.chr10:124742977C>T	uc001lgy.1	+	2	1138	c.698C>T	c.(697-699)tCg>tTg	p.S233L		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	Homo sapiens phosphoseryl-tRNA kinase (PSTK), mRNA.	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
LGALS8	3964	broad.mit.edu	37	1	236702356	236702356	+	Silent	SNP	G	A	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	uc001hxz.2	+	4	693	c.312G>A	c.(310-312)gaG>gaA	p.E104E	LGALS8_uc001hxw.2_Silent_p.E104E|LGALS8_uc001hxy.2_Silent_p.E104E|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Silent_p.E104E|LGALS8_uc001hyc.2_Silent_p.E104E	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	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														37			10		0	0	0.008291	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713174	70713174	+	Missense_Mutation	SNP	C	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.chr14:70713174C>T	uc010ttg.2	-	0	1345	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ATAAAGATTTCCCCCAATCTT	0.458000														45			17		0	0	0.007413	0	0
SH3TC2	79628	broad.mit.edu	37	5	148421065	148421065	+	Silent	SNP	G	A	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	uc003lpu.3	-	5	797	c.645C>T	c.(643-645)tcC>tcT	p.S215S	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Silent_p.S208S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Silent_p.S100S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	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														27			21		0	0	0.010504	0	0
BAI3	577	broad.mit.edu	37	6	70070960	70070960	+	Silent	SNP	T	G	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	uc010kak.3	+	27	4071	c.3795T>G	c.(3793-3795)ctT>ctG	p.L1265L	BAI3_uc003pev.4_Silent_p.L1265L|BAI3_uc011dxx.2_Silent_p.L471L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	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														34			23		0	0	0.012319	0	0
EPS8	2059	broad.mit.edu	37	12	15800062	15800062	+	Splice_Site	DEL	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	uc009zif.3	-	15	1662	c.1568_splice	c.e15+1	p.R523_splice	EPS8_uc001rdb.3_Splice_Site_p.R523_splice|EPS8_uc009zig.3_Splice_Site_p.R263_splice|EPS8_uc010shv.2_Splice_Site_p.R263_splice	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	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													---	78	---	---	19	---					
FASN	2194	broad.mit.edu	37	17	80042479	80042499	+	In_Frame_Del	DEL	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	uc002kdu.3	-	26	4775_4795	c.4658_4678delATGCCCAGCCCACCTGCCCTG	c.(4657-4680)catgcccagcccacctgccctggc>cgc	p.1553_1560HAQPTCPG>R	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	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	Golgi apparatus|cytosol|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													---	11	---	---	6	---