Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PTPRD	5789	broad.mit.edu	37	9	8521384	8521384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr9:8521384C>T	ENST00000381196.4	-	17	1397	c.854G>A	c.(853-855)gGa>gAa	p.G285E	PTPRD_ENST00000537002.1_Missense_Mutation_p.G282E|PTPRD_ENST00000397617.3_Missense_Mutation_p.G275E|PTPRD_ENST00000358503.5_Missense_Mutation_p.G272E|PTPRD_ENST00000540109.1_Missense_Mutation_p.G285E|PTPRD_ENST00000360074.4_Missense_Mutation_p.G272E|PTPRD_ENST00000486161.1_Missense_Mutation_p.G285E|PTPRD_ENST00000356435.5_Missense_Mutation_p.G285E|PTPRD_ENST00000355233.5_Missense_Mutation_p.G285E|PTPRD_ENST00000397611.3_Missense_Mutation_p.G282E|PTPRD_ENST00000397606.3_Missense_Mutation_p.G275E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	285	Ig-like C2-type 3.				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)		CACATTTCTTCCTATTGGCAT	0.443000										TSP Lung(15;0.13)			25	71					0	0	0.00047179	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45126904	45126904	+	RNA	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:45126904C>T	ENST00000575173.1	-	0	418																											TCCTCATGGGCCCAAGGAGCA	0.502000													30	102					0	0	0.00127121	0	0
DHPS	1725	broad.mit.edu	37	19	12791116	12791116	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:12791116C>T	ENST00000210060.7	-	2	366	c.231G>A	c.(229-231)ctG>ctA	p.L77L	DHPS_ENST00000594424.1_Silent_p.L35L|DHPS_ENST00000351660.5_Silent_p.L77L|DHPS_ENST00000599481.1_5'UTR	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	77					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CATCCTGTGACAGTGGTTCCA	0.537000													24	113					0	0	0.000375601	0	0
NAT6	24142	broad.mit.edu	37	3	50334157	50334157	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50334157G>A	ENST00000443842.1	-	2	1545	c.738C>T	c.(736-738)ccC>ccT	p.P246P	HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000443094.2_Silent_p.P246P|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000354862.4_Silent_p.P268P|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000417393.1_Silent_p.P246P|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTCAGGTAGGGGAGGGGGTG	0.627000													15	61					0	0	0.000308642	0	0
PGR	5241	broad.mit.edu	37	11	100922294	100922294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:100922294G>A	ENST00000325455.5	-	5	3671	c.2218C>T	c.(2218-2220)Cga>Tga	p.R740*	PGR_ENST00000263463.5_Nonsense_Mutation_p.R638*|PGR_ENST00000534013.1_Nonsense_Mutation_p.R146*	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	740	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGTAAGTTTCGAAAACCTACA	0.323000													10	70					0	0	0.000673444	0	0
TULP3	7289	broad.mit.edu	37	12	3018702	3018702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:3018702C>T	ENST00000448120.2	+	2	100	c.49C>T	c.(49-51)Cat>Tat	p.H17Y	TULP3_ENST00000397132.2_Missense_Mutation_p.H17Y	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	17					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGTGTCTTCCATGAAGAAAT	0.363000													29	100					0	0	0.00127121	0	0
BPIFA3	128861	broad.mit.edu	37	20	31814777	31814777	+	Silent	SNP	G	G	A	rs139539413		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:31814777G>A	ENST00000375454.3	+	6	873	c.663G>A	c.(661-663)gtG>gtA	p.V221V	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.V185V	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	221						extracellular region	lipid binding	p.V221V(1)									AGCTGGATGTGAAACTGTTGA	0.542000													14	69					0	0	0.000219431	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83349281	83349281	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:83349281T>C	ENST00000295470.5	-	3	839	c.664A>G	c.(664-666)Agg>Ggg	p.R222G	HNRNPDL_ENST00000602300.1_Missense_Mutation_p.R103G|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.R222G|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.R103G|HNRNPDL_ENST00000514511.1_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		GCTTTGGCCCTTTTGGGATCT	0.388000													4	108					0	0	0.000602214	0	0
RFPL2	10739	broad.mit.edu	37	22	32586943	32586943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr22:32586943G>A	ENST00000400236.3	-	5	1888	c.683C>T	c.(682-684)tCc>tTc	p.S228F	RFPL2_ENST00000400237.1_Missense_Mutation_p.S318F|RFPL2_ENST00000248980.4_Missense_Mutation_p.S257F|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.S228F	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	318	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ATCAAAAAAGGAAACGTTCTG	0.512000													10	57					0	0	0.000219431	0	0
FAM86EP	348926	broad.mit.edu	37	4	3948556	3948556	+	RNA	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:3948556C>T	ENST00000281228.8	-	0	829				FAM86EP_ENST00000313946.8_RNA																							CCACGTAGACCTCAGGAGCCC	0.637000													12	31					0	0	0.000978159	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	C	T	rs144570025		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:20576154C>T	ENST00000329697.6	-	2	182	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ACSM2B_ENST00000565232.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Missense_Mutation_p.R5Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R5Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R5Q(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGAACTTTTCGCAGCCAATG	0.498000													8	43					0	0	0.000673444	0	0
HMGA2	8091	broad.mit.edu	37	12	66308895	66308895	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:66308895C>T	ENST00000354636.3	+	4	1117	c.306C>T	c.(304-306)acC>acT	p.T102T	HMGA2_ENST00000393577.3_Intron|AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000541363.1_Intron|HMGA2_ENST00000536545.1_3'UTR|HMGA2_ENST00000403681.2_Intron	NM_003484.1	NP_003475.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	102					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GAAACAGTACCAAAAGGAGTC	0.428000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								47	159					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179645974	179645974	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:179645974T>G	ENST00000589042.1	-	21	3621	c.3397A>C	c.(3397-3399)Aac>Cac	p.N1133H	TTN_ENST00000591111.1_Missense_Mutation_p.N1133H|TTN_ENST00000360870.5_Missense_Mutation_p.N1133H|TTN_ENST00000460472.2_Missense_Mutation_p.N1087H|TTN_ENST00000342175.6_Missense_Mutation_p.N1087H|TTN_ENST00000342992.6_Missense_Mutation_p.N1133H|TTN_ENST00000359218.5_Missense_Mutation_p.N1087H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1133	Ig-like 4.						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)			GTTTGTTTGTTGTAACTCACT	0.343000													4	43					0	0	0.000602214	0	0
NAT6	24142	broad.mit.edu	37	3	50334616	50334616	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50334616G>A	ENST00000443842.1	-	2	1086	c.279C>T	c.(277-279)tcC>tcT	p.S93S	HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000443094.2_Silent_p.S93S|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000354862.4_Silent_p.S115S|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000417393.1_Silent_p.S93S|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTGGCCCAGGGAGTGCAGGC	0.657000													14	43					0	0	0.000219431	0	0
CROCC	9696	broad.mit.edu	37	1	17292570	17292570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:17292570C>T	ENST00000375541.5	+	29	4721	c.4652C>T	c.(4651-4653)tCg>tTg	p.S1551L		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1551					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCGCAACCTCGAGGGCCAGG	0.622000													6	42					0	0	8.12818e-05	0	0
TRIM44	54765	broad.mit.edu	37	11	35685280	35685280	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:35685280C>T	ENST00000299413.5	+	1	928	c.621C>T	c.(619-621)caC>caT	p.H207H		NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	207						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TTGGGGCTCACCAGGGCCACC	0.517000													16	118					0	0	0.000958276	0	0
KCNB2	9312	broad.mit.edu	37	8	73848532	73848532	+	Silent	SNP	C	C	T	rs145537672	by1000genomes	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:73848532C>T	ENST00000523207.1	+	3	1530	c.942C>T	c.(940-942)ctC>ctT	p.L314L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	314					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCCTGAAACTCGCCAGGCATT	0.512000													87	35					0	0	0.000781405	0	0
RBM6	10180	broad.mit.edu	37	3	50005389	50005389	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50005389C>T	ENST00000443081.1	+	3	1054	c.135C>T	c.(133-135)ggC>ggT	p.G45G	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000266022.4_Silent_p.G177G|RBM6_ENST00000422955.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	177					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACTTCAGGGGCCGGGGCACTT	0.483000													13	59					0	0	0.00136819	0	0
JUND	3727	broad.mit.edu	37	19	18391905	18391905	+	Silent	SNP	G	G	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:18391905G>T	ENST00000252818.3	-	1	527	c.390C>A	c.(388-390)gcC>gcA	p.A130A		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	130					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						GCTCCTCGCTGGCCGCCACCT	0.692000													7	25					0.000157383	0.00121331	0.000157383	1	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104843	11104843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:11104843C>T	ENST00000472091.1	-	2	1076	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.R234Q|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		234						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						aagagaatttcgagttTGGTC	0.463000													12	34					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9090533	9090533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:9090533C>T	ENST00000397910.4	-	1	1485	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	428	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						CCTTCTGTTTCCTTTCCACTC	0.502000													14	79					0	0	0.000219431	0	0
PNPLA7	375775	broad.mit.edu	37	9	140409851	140409851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr9:140409851G>A	ENST00000406427.1	-	12	1541	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L	PNPLA7_ENST00000371457.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.P377L	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	377					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGAAGGGTCAGGGTCACCTGC	0.647000													3	10					0	0	0.00024832	0	0
NR1H4	9971	broad.mit.edu	37	12	100904705	100904705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:100904705C>T	ENST00000548884.1	+	4	770	c.229C>T	c.(229-231)Cct>Tct	p.P77S	NR1H4_ENST00000549996.1_Missense_Mutation_p.P77S|NR1H4_ENST00000392986.3_Missense_Mutation_p.P77S|NR1H4_ENST00000551379.1_Missense_Mutation_p.P87S|NR1H4_ENST00000188403.7_Missense_Mutation_p.P87S	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	87					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CCCCCAGCAGCCTGAAGAGTG	0.478000													15	64					0	0	0.000219431	0	0
SPINK5	11005	broad.mit.edu	37	5	147466006	147466006	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:147466006G>A	ENST00000359874.3	+	5	394	c.321G>A	c.(319-321)ggG>ggA	p.G107G	SPINK5_ENST00000256084.7_Silent_p.G107G|SPINK5_ENST00000398454.1_Silent_p.G107G	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	107	Kazal-like 2.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAGATGGGGATTTTATCT	0.363000													15	92					0	0	0.000422831	0	0
COL21A1	81578	broad.mit.edu	37	6	55935586	55935586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:55935586C>T	ENST00000244728.5	-	21	2373	c.1976G>A	c.(1975-1977)gGt>gAt	p.G659D	COL21A1_ENST00000370819.1_Missense_Mutation_p.G656D|COL21A1_ENST00000535941.1_Missense_Mutation_p.G659D|COL21A1_ENST00000370808.2_Missense_Mutation_p.G59D|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	659					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)			TCCAGGTTCACCTTTGCTTCC	0.328000													5	11					0	0	0.000157383	0	0
HEMK1	51409	broad.mit.edu	37	3	50614942	50614942	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50614942C>T	ENST00000232854.4	+	6	1104	c.552C>T	c.(550-552)agC>agT	p.S184S	HEMK1_ENST00000455834.1_Silent_p.S184S|HEMK1_ENST00000434410.1_Silent_p.S184S	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	184					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TGGGACAGAGCCGAGTCATTG	0.547000													13	61					0	0	0.00185496	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230550	29230550	+	RNA	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:29230550G>A	ENST00000441381.1	+	0	79																											CTCATCCTGAGATGGACTGTT	0.423000													10	44					0	0	0.000673444	0	0
USP6	9098	broad.mit.edu	37	17	5042836	5042836	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:5042836C>T	ENST00000574788.1	+	22	3595	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	USP6_ENST00000332776.4_Silent_p.P455P|USP6_ENST00000304328.5_Silent_p.P138P|USP6_ENST00000250066.6_Silent_p.P455P			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	455					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGTCAATGCCCCGGCTCCCAA	0.607000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								17	58					0	0	0.000566183	0	0
GRIN2B	2904	broad.mit.edu	37	12	13722818	13722818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:13722818C>T	ENST00000279593.3	-	11	2514	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	769					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACCCAGAATCTTTTTGGATG	0.517000													10	58					0	0	0.000673444	0	0
MYO1A	4640	broad.mit.edu	37	12	57423022	57423022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:57423022C>T	ENST00000442789.2	-	28	3186	c.2899G>A	c.(2899-2901)Ggg>Agg	p.G967R	MYO1A_ENST00000300119.3_Missense_Mutation_p.G967R|MYO1A_ENST00000544473.1_Missense_Mutation_p.G805R	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	967					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGGAAGTCCCCCTTGGAGCCC	0.527000													12	61					0	0	0.000978159	0	0
ANK3	288	broad.mit.edu	37	10	61831846	61831846	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:61831846C>T	ENST00000280772.1	-	37	8984	c.8793G>A	c.(8791-8793)agG>agA	p.R2931R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2931					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAACATATTCCCTATATAAGA	0.448000													12	36					0	0	0.000978159	0	0
ASPM	259266	broad.mit.edu	37	1	197115410	197115410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:197115410C>T	ENST00000367409.4	-	1	414	c.158G>A	c.(157-159)gGg>gAg	p.G53E	ASPM_ENST00000294732.7_Missense_Mutation_p.G53E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	53					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGAACGTCCCCGAAGCAAAG	0.677000													21	149					0	0	0.00047179	0	0
NCAN	1463	broad.mit.edu	37	19	19349170	19349170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:19349170C>T	ENST00000252575.5	+	11	3402	c.3359C>T	c.(3358-3360)tCc>tTc	p.S1120F	NCAN_ENST00000538881.1_Missense_Mutation_p.S571F	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1120	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGCCGCCGCTCCGGCCACCTG	0.652000													23	105					0	0	0.000720815	0	0
COL28A1	340267	broad.mit.edu	37	7	7410438	7410438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:7410438G>A	ENST00000399429.3	-	33	3124	c.2984C>T	c.(2983-2985)tCg>tTg	p.S995L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	995					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGAGGTGACGATGAACCAAA	0.368000													16	70					0	0	0.000308642	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230209	155230209	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:155230209C>T	ENST00000355379.3	-	3	500	c.222G>A	c.(220-222)ctG>ctA	p.L74L	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Silent_p.L100L	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	100				K -> M (in Ref. 2; AAB62724).	post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGTTTCTTCAGCAGCTCAG	0.622000													12	53					0	0	0.000978159	0	0
DOCK1	1793	broad.mit.edu	37	10	128908530	128908530	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:128908530C>T	ENST00000280333.6	+	25	2581	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	824					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTACTGAATTCATCCTCAATG	0.418000													5	22					0	0	0.000602214	0	0
USP29	57663	broad.mit.edu	37	19	57640197	57640197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:57640197C>T	ENST00000254181.4	+	4	608	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	USP29_ENST00000598197.1_Nonsense_Mutation_p.Q52*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	52					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAATTTTTCAGCTGAGCAA	0.338000													7	23					0	0	0.000157383	0	0
TH	7054	broad.mit.edu	37	11	2189398	2189398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:2189398G>A	ENST00000381178.1	-	5	610	c.592C>T	c.(592-594)Cca>Tca	p.P198S	TH_ENST00000381175.1_Missense_Mutation_p.P194S|TH_ENST00000352909.3_Missense_Mutation_p.P167S|TH_ENST00000333684.5_Missense_Mutation_p.P171S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	198					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACTTTTCTTGGGAACCAGGGG	0.572000													12	55					0	0	0.000308642	0	0
SCLT1	132320	broad.mit.edu	37	4	129880925	129880925	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:129880925C>A	ENST00000281142.5	-	12	1380	c.877G>T	c.(877-879)Gtg>Ttg	p.V293L	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	293						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGGATTGTCACACATAATCTA	0.368000													21	75					2.4624e-09	1.92375e-08	0.00121646	1	0
PXDNL	137902	broad.mit.edu	37	8	52469450	52469450	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:52469450G>C	ENST00000356297.4	-	4	430	c.330C>G	c.(328-330)atC>atG	p.I110M	PXDNL_ENST00000543296.1_Missense_Mutation_p.I110M	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	110					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)				CTAGTGCATGGATTTCATTCT	0.274000													27	84					0	0	0.00127121	0	0
TBX22	50945	broad.mit.edu	37	X	79282277	79282277	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:79282277C>T	ENST00000442340.1	+	6	838	c.348C>T	c.(346-348)tcC>tcT	p.S116S	TBX22_ENST00000373291.1_Silent_p.S116S|TBX22_ENST00000373294.5_Silent_p.S236S|TBX22_ENST00000373296.3_Silent_p.S236S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	236					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTGACCTGTCCCAGATTCAGT	0.448000													19	27					0	0	0.000958276	0	0
NEB	4703	broad.mit.edu	37	2	152512464	152512464	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:152512464T>C	ENST00000427231.2	-	50	6771	c.6569A>G	c.(6568-6570)gAg>gGg	p.E2190G	NEB_ENST00000409198.1_Missense_Mutation_p.E2190G|NEB_ENST00000172853.10_Missense_Mutation_p.E2190G|NEB_ENST00000603639.1_Missense_Mutation_p.E2190G|NEB_ENST00000397345.3_Missense_Mutation_p.E2190G|NEB_ENST00000604864.1_Missense_Mutation_p.E2190G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2190					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGCCTTCTCCACTTCCAG	0.433000													20	63					0	0	0.000958276	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276908	71276908	+	Missense_Mutation	SNP	G	G	A	rs36179995		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:71276908G>A	ENST00000398531.1	+	1	300	c.275G>A	c.(274-276)gGg>gAg	p.G92E	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	92	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTCCAAGGGGGGCTGTGGC	0.677000													21	100					0	0	0.000491102	0	0
AKR7L	246181	broad.mit.edu	37	1	19596128	19596128	+	RNA	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:19596128G>A	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGAGGCAGGGGAAGAGCTCC	0.592000													6	28					0	0	8.12818e-05	0	0
ITGA5	3678	broad.mit.edu	37	12	54796799	54796799	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:54796799G>A	ENST00000293379.4	-	19	2211	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	650					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CAGGCACACAGATGTTGTCTT	0.552000													21	63					0	0	0.000375601	0	0
CD163L1	283316	broad.mit.edu	37	12	7527997	7527997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:7527997G>A	ENST00000313599.3	-	11	2938	c.2881C>T	c.(2881-2883)Cgt>Tgt	p.R961C	CD163L1_ENST00000396630.1_Missense_Mutation_p.R961C|CD163L1_ENST00000416109.2_Missense_Mutation_p.R971C			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	961	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCACACACGAACACTTCTT	0.483000													9	44					0	0	0.000274275	0	0
RYR2	6262	broad.mit.edu	37	1	237947632	237947632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:237947632C>T	ENST00000366574.2	+	90	12937	c.12620C>T	c.(12619-12621)tCg>tTg	p.S4207L	RYR2_ENST00000360064.6_Missense_Mutation_p.S4213L|RYR2_ENST00000542537.1_Missense_Mutation_p.S4191L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4207					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCAGATCTCGGAGTCGGAC	0.527000													13	48					0	0	0.00185496	0	0
DNAH5	1767	broad.mit.edu	37	5	13864533	13864533	+	Silent	SNP	A	A	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:13864533A>C	ENST00000265104.4	-	28	4673	c.4569T>G	c.(4567-4569)ccT>ccG	p.P1523P	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1523	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTCAGAAGAGGTGCCTCCA	0.408000									Kartagener syndrome				13	64					0	0	0.000308642	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316833	39316833	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:39316833G>A	ENST00000390661.3	-	1	150	c.111C>T	c.(109-111)cgC>cgT	p.R37R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	37	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGCTGGGGCGGCAGCAGG	0.652000													16	81					0	0	0.000422831	0	0
FAT4	79633	broad.mit.edu	37	4	126369632	126369632	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:126369632G>A	ENST00000394329.3	+	9	7474	c.7461G>A	c.(7459-7461)gcG>gcA	p.A2487A	FAT4_ENST00000335110.5_Silent_p.A785A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2487	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGTCTTTGCGGTTACAGTCA	0.368000													12	88					0	0	0.000422831	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578462	67578462	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:67578462C>T	ENST00000310421.4	-	1	990	c.732G>A	c.(730-732)caG>caA	p.Q244Q		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	244	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GCTGAAAGTGCTGTTTAAGAT	0.512000													8	49					0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196651856	196651856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:196651856G>A	ENST00000312428.6	-	58	10856	c.10756C>T	c.(10756-10758)Cat>Tat	p.H3586Y	DNAH7_ENST00000409063.1_Missense_Mutation_p.H69Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3586	AAA 6 (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						ACCAAAGCATGAAAGAAACAC	0.388000													12	49					0	0	0.000978159	0	0
KIF14	9928	broad.mit.edu	37	1	200587607	200587607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:200587607G>A	ENST00000367350.4	-	2	683	c.245C>T	c.(244-246)cCt>cTt	p.P82L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	82	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACAGGATTAGGGGTAAGGGG	0.388000													12	68					0	0	0.000219431	0	0
KAT8	84148	broad.mit.edu	37	16	31131665	31131665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:31131665C>T	ENST00000543774.2	+	4	627	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	KAT8_ENST00000448516.2_Missense_Mutation_p.R98W|KAT8_ENST00000219797.4_Missense_Mutation_p.R98W			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	98	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	p.R98W(2)									TACAGTTAACCGGCGGCTGGA	0.577000													17	57					0	0	0.000958276	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120338	62120338	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:62120338C>T	ENST00000217182.3	-	7	1362	c.1197G>A	c.(1195-1197)gcG>gcA	p.A399A	EEF1A2_ENST00000298049.7_Silent_p.A399A	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	399						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACGATGGCCGCGTCTCCAG	0.637000													132	40					0	0	0.000781405	0	0
NEUROG2	63973	broad.mit.edu	37	4	113435952	113435952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:113435952G>A	ENST00000313341.3	-	2	1006	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	227	Ser-rich.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGAATTGGAGGACACGGAGGA	0.697000													4	29					0	0	0.00024832	0	0
INPP5K	51763	broad.mit.edu	37	17	1399170	1399170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:1399170G>A	ENST00000406424.4	-	14	1926	c.1066C>T	c.(1066-1068)Ccg>Tcg	p.P356S	INPP5K_ENST00000320345.6_Missense_Mutation_p.P356S|INPP5K_ENST00000542125.1_Missense_Mutation_p.P336S|INPP5K_ENST00000421807.2_Missense_Mutation_p.P432S|INPP5K_ENST00000397335.3_Missense_Mutation_p.P340S	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	432	Required for ruffle localization.				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GAGCCAGGCGGGATCTGCAGG	0.627000													6	32					0	0	0.00116845	0	0
MRVI1	10335	broad.mit.edu	37	11	10649302	10649302	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:10649302C>T	ENST00000547195.1	-	7	938	c.438G>A	c.(436-438)ggG>ggA	p.G146G	MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000527509.2_Silent_p.G146G|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000436272.1_Silent_p.G210G|MRVI1_ENST00000423302.2_Silent_p.G237G|MRVI1_ENST00000552103.1_Silent_p.G146G|MRVI1_ENST00000531107.1_Silent_p.G229G|MRVI1_ENST00000541483.1_Silent_p.G237G|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000421747.1_Silent_p.G228G	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	210	Interaction with PRKG1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGGCCTCATCCCCCTTCTGCT	0.552000													18	80					0	0	0.00152264	0	0
SLC36A1	206358	broad.mit.edu	37	5	150838401	150838401	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:150838401C>T	ENST00000243389.3	+	2	271	c.48C>T	c.(46-48)tcC>tcT	p.S16S	SLC36A1_ENST00000521925.1_Silent_p.S16S|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000520701.1_Silent_p.S16S|SLC36A1_ENST00000429484.2_Silent_p.S16S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	16					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ACTACAGCTCCACGGACGTGA	0.592000													7	47					0	0	8.12818e-05	0	0
MEF2C	4208	broad.mit.edu	37	5	88018700	88018700	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:88018700G>A	ENST00000504921.2	-	10	1815	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	MEF2C_ENST00000424173.2_Silent_p.S371S|MEF2C_ENST00000340208.5_Silent_p.S391S|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000510942.1_Silent_p.S373S|MEF2C_ENST00000539796.1_Silent_p.S325S|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000514028.1_Silent_p.S381S|MEF2C_ENST00000437473.2_Silent_p.S381S			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	381	Transcription repressor.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TAGAAGGCAGGGAGAGATTTG	0.517000										HNSCC(66;0.2)			5	19					0	0	0.000602214	0	0
COL12A1	1303	broad.mit.edu	37	6	75799907	75799907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:75799907C>T	ENST00000322507.8	-	63	9169	c.8860G>A	c.(8860-8862)Gga>Aga	p.G2954R	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1790R|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2950R|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2878R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2954	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCTCTGGCTCCTGCGCTACCA	0.622000													70	201					0	0	0.000781405	0	0
HCN4	10021	broad.mit.edu	37	15	73616490	73616490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:73616490C>T	ENST00000261917.3	-	7	3076	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	695					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ATGGGGTACTCCTCCAGCACC	0.687000													17	67					0	0	0.00152264	0	0
MTDH	92140	broad.mit.edu	37	8	98735188	98735188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:98735188C>T	ENST00000336273.3	+	11	1931	c.1603C>T	c.(1603-1605)Caa>Taa	p.Q535*	MTDH_ENST00000519934.1_Nonsense_Mutation_p.Q479*	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	535					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GAGCTCTTCCCAAGTGCCGCC	0.393000													225	69					0	0	0.000781405	0	0
CNN2	1265	broad.mit.edu	37	19	1036119	1036119	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:1036119C>T	ENST00000562958.2	+	5	477	c.444C>T	c.(442-444)tcC>tcT	p.S148S	CNN2_ENST00000263097.4_Intron|CNN2_ENST00000348419.3_Intron|CNN2_ENST00000565096.2_Intron|CNN2_ENST00000606983.1_Intron			Q99439	CNN2_HUMAN	calponin 2	130					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	p.?(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GGCCCCTTTCCCTCACCCAGG	0.647000													4	18					0	0	0.00024832	0	0
GPR173	54328	broad.mit.edu	37	X	53106032	53106032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:53106032C>T	ENST00000332582.4	+	2	720	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CGTCTGCTTCCCCTTTGTGCT	0.587000													26	32					0	0	0.00106085	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228545	228228545	+	Silent	SNP	T	T	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:228228545T>C	ENST00000304568.3	-	4	622	c.585A>G	c.(583-585)ctA>ctG	p.L195L		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	195						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CAACAAGCAATAGACCTAAAA	0.448000													7	86					0	0	8.12818e-05	0	0
MND1	84057	broad.mit.edu	37	4	154318395	154318395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:154318395G>A	ENST00000240488.3	+	6	465	c.376G>A	c.(376-378)Gag>Aag	p.E126K	MND1_ENST00000504860.1_Missense_Mutation_p.E111K	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	126					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GCTAGCAAAAGAGCTTTCTTC	0.358000													10	14					0	0	0.000978159	0	0
ACACA	31	broad.mit.edu	37	17	35545397	35545397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:35545397C>T	ENST00000353139.5	-	39	5077	c.4596G>A	c.(4594-4596)atG>atA	p.M1532I	ACACA_ENST00000335166.5_Missense_Mutation_p.M1417I|ACACA_ENST00000394406.2_Missense_Mutation_p.M1495I|ACACA_ENST00000360679.3_Missense_Mutation_p.M1437I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1495					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACCGCATTACCATGCTCCGCA	0.463000													20	79					0	0	0.00152264	0	0
MED25	81857	broad.mit.edu	37	19	50333967	50333967	+	Silent	SNP	T	T	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:50333967T>A	ENST00000312865.6	+	9	977	c.924T>A	c.(922-924)ccT>ccA	p.P308P	MED25_ENST00000538643.1_Silent_p.P95P	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	308	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCATCACCCCTCTCCAACAAG	0.662000													7	43					0	0	0.000274275	0	0
AICDA	57379	broad.mit.edu	37	12	8757480	8757480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:8757480C>T	ENST00000229335.6	-	4	569	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	AICDA_ENST00000537228.1_Missense_Mutation_p.E146K	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	156					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AAAGTTCTTTCGTGGTTTTCT	0.423000													26	137					0	0	0.000586117	0	0
MTMR14	64419	broad.mit.edu	37	3	9743533	9743533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:9743533C>T	ENST00000296003.4	+	19	1951	c.1829C>T	c.(1828-1830)gCt>gTt	p.A610V	MTMR14_ENST00000420925.1_Missense_Mutation_p.A252V|MTMR14_ENST00000353332.5_Missense_Mutation_p.A558V|MTMR14_ENST00000351233.5_Missense_Mutation_p.A498V	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	610						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GCCTTCTTGGCTGCGTACAGC	0.612000													18	58					0	0	0.00074312	0	0
PROX1	5629	broad.mit.edu	37	1	214170185	214170185	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:214170185A>T	ENST00000366958.4	+	2	915	c.307A>T	c.(307-309)Aaa>Taa	p.K103*	PROX1_ENST00000435016.1_Nonsense_Mutation_p.K103*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.K103*|PROX1_ENST00000498508.2_Nonsense_Mutation_p.K103*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	103					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TAACATGAACAAAAATGGTGG	0.483000													23	77					0	0	0.000375601	0	0
RIMS2	9699	broad.mit.edu	37	8	104922734	104922734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:104922734G>A	ENST00000262231.10	+	3	1482	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	635					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACCCTTAACGAGGAGCATAG	0.448000										HNSCC(12;0.0054)			19	24					0	0	0.00152264	0	0
COL9A3	1299	broad.mit.edu	37	20	61450607	61450607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:61450607C>T	ENST00000343916.3	+	4	220	c.217C>T	c.(217-219)Cca>Tca	p.P73S		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	73	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GCCGGGGAAACCAGGAGAGGC	0.692000													21	54					0	0	0.00047179	0	0
GPR124	25960	broad.mit.edu	37	8	37693122	37693122	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:37693122C>T	ENST00000412232.2	+	13	1897	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	628					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TATTCTCATCCCTTCCGGCTG	0.647000													8	87					0	0	0.000274275	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467126	21467126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:21467126C>T	ENST00000281523.2	-	6	1228	c.710G>A	c.(709-711)gGa>gAa	p.G237E		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	237						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGTGCCACTTCCATTCCGGGC	0.448000													14	52					0	0	0.000219431	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598689	151598689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:151598689C>T	ENST00000362032.4	+	3	463	c.358C>T	c.(358-360)Cga>Tga	p.R120*	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	120						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CAGCATAGATCGATACTTGAT	0.383000													16	73					0	0	0.000422831	0	0
ALPK1	80216	broad.mit.edu	37	4	113352711	113352711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:113352711C>T	ENST00000458497.1	+	11	2287	c.2008C>T	c.(2008-2010)Ccc>Tcc	p.P670S	ALPK1_ENST00000177648.9_Missense_Mutation_p.P670S|ALPK1_ENST00000504176.2_Missense_Mutation_p.P592S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	670							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCAACAGATGCCCTTGACACC	0.483000													14	59					0	0	0.000219431	0	0
PHACTR3	116154	broad.mit.edu	37	20	58322850	58322850	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:58322850G>A	ENST00000371015.1	+	3	785	c.318G>A	c.(316-318)gaG>gaA	p.E106E	PHACTR3_ENST00000359926.3_Silent_p.E103E|PHACTR3_ENST00000355648.4_Silent_p.E65E|PHACTR3_ENST00000541461.1_Silent_p.E65E|PHACTR3_ENST00000395636.2_Silent_p.E65E|PHACTR3_ENST00000395639.4_Silent_p.E65E|PHACTR3_ENST00000361300.4_Silent_p.E65E	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	106						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGGCCGAGAGGAGCTCATCA	0.592000													139	209					0	0	0.000781405	0	0
ATP13A4	84239	broad.mit.edu	37	3	193207530	193207530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:193207530C>T	ENST00000342695.4	-	7	1049	c.727G>A	c.(727-729)Gat>Aat	p.D243N	ATP13A4_ENST00000295548.3_Missense_Mutation_p.D243N|ATP13A4_ENST00000392443.3_Missense_Mutation_p.D243N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	243					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTCTGAGATCATATACTGTC	0.313000													34	161					0	0	0.000692331	0	0
WDR61	80349	broad.mit.edu	37	15	78580681	78580681	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:78580681G>A	ENST00000267973.2	-	8	877	c.606C>T	c.(604-606)tcC>tcT	p.S202S	WDR61_ENST00000558311.1_Silent_p.S202S|WDR61_ENST00000558459.1_Silent_p.S109S			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	202							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CAAGGAGCTGGGAGTCCGGGG	0.488000													11	53					0	0	0.000219431	0	0
POLR1A	25885	broad.mit.edu	37	2	86308727	86308727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:86308727G>A	ENST00000263857.6	-	8	1298	c.920C>T	c.(919-921)tCa>tTa	p.S307L	POLR1A_ENST00000409681.1_Missense_Mutation_p.S307L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	307					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTATTACCTTGAGGGCGGCAC	0.423000													9	30					0	0	0.000274275	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329813	62329813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:62329813C>T	ENST00000369996.1	+	3	900	c.800C>T	c.(799-801)gCg>gTg	p.A267V	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	267					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CTCCTGGGGGCGCAGGACGGG	0.761000													25	12					0	0	0.000720815	0	0
SCN2A	6326	broad.mit.edu	37	2	166164425	166164425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:166164425C>T	ENST00000357398.3	+	4	744	c.454C>T	c.(454-456)Cca>Tca	p.P152S	SCN2A_ENST00000375427.2_Missense_Mutation_p.P152S|SCN2A_ENST00000283256.6_Missense_Mutation_p.P152S|SCN2A_ENST00000375437.2_Missense_Mutation_p.P152S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	152					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAGTAACCCTCCAGACTGGAC	0.348000													37	195					0	0	0.00195071	0	0
RMDN2	151393	broad.mit.edu	37	2	38178791	38178791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:38178791G>A	ENST00000407257.1	+	2	580	c.433G>A	c.(433-435)Gat>Aat	p.D145N	RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.D145N|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.D145N|RMDN2_ENST00000354545.2_Intron					regulator of microtubule dynamics 2																		CATTTTTTTTGATCCTCAAGC	0.348000													16	55					0	0	0.000308642	0	0
NUP93	9688	broad.mit.edu	37	16	56857657	56857657	+	Silent	SNP	A	A	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:56857657A>C	ENST00000564887.1	+	6	953	c.324A>C	c.(322-324)acA>acC	p.T108T	NUP93_ENST00000542526.1_Silent_p.T108T|NUP93_ENST00000308159.5_Silent_p.T231T|NUP93_ENST00000569842.1_Silent_p.T231T	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	231					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AACAAATGACAGACGTGTTGT	0.498000													23	105					0	0	0.000375601	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429209	23429209	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:23429209C>T	ENST00000519973.1	+	4	1056	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	286					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCAATGCCTTCCGGACGGTGT	0.612000													4	23					0	0	0.00024832	0	0
A2ML1	144568	broad.mit.edu	37	12	8990983	8990983	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:8990983C>G	ENST00000299698.7	+	9	1087	c.907C>G	c.(907-909)Ctc>Gtc	p.L303V		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	147						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACCTTTGACCTCATTGGATA	0.453000													24	94					0	0	0.000586117	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872823	51872823	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:51872823C>T	ENST00000371497.5	+	2	3713	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	TSHZ2_ENST00000603338.2_Silent_p.I939I|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.I939I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	942					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTACCTACATCAGTCACTTAG	0.493000													15	136					0	0	0.000219431	0	0
FOXD1	2297	broad.mit.edu	37	5	72743629	72743629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:72743629G>A	ENST00000499003.3	-	1	723	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S		NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	187					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		GGCTCGCGGGGGATCTTGACG	0.652000													18	79					0	0	0.00121646	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662000													3	26					0	0	0.000602214	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24517982	24517982	+	RNA	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr14:24517982C>T	ENST00000558293.1	+	0	630					NR_102693.1				dehydrogenase/reductase (SDR family) member 4 like 1																		GGTGAACTGCCTAGCACCTGG	0.527000													34	76					0	0	0.000953801	0	0
ZNF700	90592	broad.mit.edu	37	19	12060222	12060222	+	Silent	SNP	T	T	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:12060222T>A	ENST00000482090.1	+	3	1747	c.1329T>A	c.(1327-1329)ctT>ctA	p.L443L	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.L461L|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CCTCACACCTTCGAGTGCATG	0.468000													5	32					0	0	0.00116845	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	47					0	0	0.00024832	0	0
SOCS3	9021	broad.mit.edu	37	17	76354760	76354760	+	Silent	SNP	T	T	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:76354760T>A	ENST00000330871.2	-	2	832	c.417A>T	c.(415-417)ccA>ccT	p.P139P		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	139	SH2.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GTTCAGTAGGTGGCGAGGGGA	0.682000													9	38					0	0	0.000442599	0	0
INSC	387755	broad.mit.edu	37	11	15260544	15260544	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:15260544C>T	ENST00000379554.3	+	11	1504	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	INSC_ENST00000379556.3_Silent_p.V439V|INSC_ENST00000530161.1_Silent_p.V439V|INSC_ENST00000528567.1_Silent_p.V439V|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Silent_p.V397V|INSC_ENST00000424273.1_Silent_p.V397V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	486					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GTGAGCGAGTCCAGCAGAAAG	0.597000													7	35					0	0	0.000274275	0	0
MYOF	26509	broad.mit.edu	37	10	95111489	95111489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:95111489C>T	ENST00000371501.4	-	33	3718	c.3596G>A	c.(3595-3597)gGg>gAg	p.G1199E	MYOF_ENST00000359263.4_Missense_Mutation_p.G1199E|MYOF_ENST00000371502.4_Missense_Mutation_p.G1199E|MYOF_ENST00000358334.5_Missense_Mutation_p.G1186E			Q9NZM1	MYOF_HUMAN	myoferlin	1199	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGGGGTTCCCCATAGATTTC	0.413000													15	46					0	0	0.000308642	0	0
INTS3	65123	broad.mit.edu	37	1	153732863	153732863	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:153732863C>T	ENST00000456435.1	+	12	1882	c.696C>T	c.(694-696)tgC>tgT	p.C232C	INTS3_ENST00000435409.2_Silent_p.C438C|INTS3_ENST00000318967.2_Silent_p.C438C|INTS3_ENST00000512605.1_Silent_p.C232C|INTS3_ENST00000476843.1_3'UTR			Q68E01	INT3_HUMAN	integrator complex subunit 3	439					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTTCATGTGCCGCGTAAGTG	0.527000													10	33					0	0	0.000673444	0	0
LRBA	987	broad.mit.edu	37	4	151773051	151773051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:151773051G>A	ENST00000535741.1	-	23	4284	c.3811C>T	c.(3811-3813)Cga>Tga	p.R1271*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.R1271*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.R1271*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.R1271*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1271						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCACATGTCGATGAGGTTGA	0.373000													9	38					0	0	0.000442599	0	0
CPEB1	64506	broad.mit.edu	37	15	83226629	83226629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:83226629G>A	ENST00000563800.1	-	4	2293	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.P88S|CPEB1_ENST00000398591.2_Missense_Mutation_p.P88S|CPEB1_ENST00000261723.6_Missense_Mutation_p.P166S|CPEB1_ENST00000423133.2_Missense_Mutation_p.P88S|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.P163S|CPEB1_ENST00000562019.1_Missense_Mutation_p.P163S|CPEB1_ENST00000564522.1_Missense_Mutation_p.P88S|CPEB1_ENST00000568757.1_Missense_Mutation_p.P88S			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	163	Ser-rich.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTAACTGAGGGTGCTGGAAAC	0.567000													21	82					0	0	0.00152264	0	0
PIH1D1	55011	broad.mit.edu	37	19	49949823	49949823	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:49949823G>A	ENST00000262265.5	-	8	1051	c.816C>T	c.(814-816)ttC>ttT	p.F272F	PIH1D1_ENST00000596049.1_Silent_p.F272F|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	272					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TCTTCCGGTGGAAGGCTGCCT	0.632000													18	52					0	0	0.00074312	0	0
SLC4A10	57282	broad.mit.edu	37	2	162627522	162627522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:162627522C>T	ENST00000375514.5	+	3	408	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	SLC4A10_ENST00000446997.1_Missense_Mutation_p.R30C|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R30C|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R30C|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R30C|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R30C	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	30					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTGGAACTCGTTCTATTCT	0.328000													5	24					0	0	0.00116845	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31516145	31516145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:31516145G>A	ENST00000376148.4	+	2	377	c.263G>A	c.(262-264)gGg>gAg	p.G88E	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.G88E	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	88					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CTTCGGCTCGGGGCTGACCCT	0.692000													5	16					0	0	0.000602214	0	0
SNCAIP	9627	broad.mit.edu	37	5	121780263	121780263	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:121780263G>A	ENST00000261367.7	+	10	2997	c.1569G>A	c.(1567-1569)ttG>ttA	p.L523L	SNCAIP_ENST00000379533.2_Silent_p.L523L|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.L416L|SNCAIP_ENST00000542191.1_Silent_p.L34L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Silent_p.L476L|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.L110L|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.L78L			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	476					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACAGACCTTGGTTGAATATG	0.483000													19	84					0	0	0.00188189	0	0
ADAR	103	broad.mit.edu	37	1	154558739	154558739	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:154558739G>A	ENST00000368474.4	-	12	3319	c.3120C>T	c.(3118-3120)atC>atT	p.I1040I	ADAR_ENST00000292205.5_Silent_p.I1083I|ADAR_ENST00000368471.3_Silent_p.I745I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1040	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCAGCGTAGGATTTTGTCAC	0.552000													21	70					0	0	0.000295444	0	0
MUC16	94025	broad.mit.edu	37	19	9074606	9074606	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:9074606G>A	ENST00000397910.4	-	3	13043	c.12840C>T	c.(12838-12840)atC>atT	p.I4280I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4282	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						TGTCCCCCATGATGTGGGAGG	0.498000													17	53					0	0	0.00074312	0	0
CCDC135	84229	broad.mit.edu	37	16	57756701	57756701	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:57756701C>T	ENST00000360716.3	+	11	1577	c.1356C>T	c.(1354-1356)taC>taT	p.Y452Y	CCDC135_ENST00000336825.8_Silent_p.Y387Y|CCDC135_ENST00000394337.4_Silent_p.Y452Y			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	452						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGCCCCGTACCTCAATAGCA	0.592000													24	83					0	0	0.000878237	0	0
NNT	23530	broad.mit.edu	37	5	43651923	43651923	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:43651923C>T	ENST00000264663.5	+	13	2021	c.1800C>T	c.(1798-1800)ctC>ctT	p.L600L	NNT_ENST00000344920.4_Silent_p.L600L|NNT_ENST00000512996.2_Silent_p.L469L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	600					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTACCTGCTCCCTGCCGGCA	0.453000													28	124					0	0	0.000491102	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558795	61558795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr18:61558795G>A	ENST00000457692.1	+	3	450	c.117G>A	c.(115-117)atG>atA	p.M39I	SERPINB2_ENST00000299502.4_Missense_Mutation_p.M39I	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	39					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGTCCACCATGGCCATGGTCT	0.542000													8	46					0	0	0.000274275	0	0
HIF3A	64344	broad.mit.edu	37	19	46838216	46838216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:46838216C>T	ENST00000339613.2	+	14	1972	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	HIF3A_ENST00000600383.1_Missense_Mutation_p.P560S|HIF3A_ENST00000377670.4_Missense_Mutation_p.P629S|HIF3A_ENST00000300862.3_Missense_Mutation_p.P627S|HIF3A_ENST00000472815.1_Missense_Mutation_p.P416S|HIF3A_ENST00000420102.2_Missense_Mutation_p.P578S|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.P560S			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	629	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCAGCACCCCACTCCTGAA	0.592000													17	38					0	0	0.00074312	0	0
DLK2	65989	broad.mit.edu	37	6	43418616	43418616	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:43418616C>T	ENST00000357338.3	-	6	1513	c.813G>A	c.(811-813)gtG>gtA	p.V271V	DLK2_ENST00000372485.1_Silent_p.V265V|DLK2_ENST00000372488.3_Silent_p.V271V|DLK2_ENST00000414245.1_Silent_p.V265V	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	271						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCAGGTACCACTACAGCTG	0.652000													18	57					0	0	0.00152264	0	0
ASPM	259266	broad.mit.edu	37	1	197115411	197115411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:197115411C>T	ENST00000367409.4	-	1	413	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	ASPM_ENST00000294732.7_Missense_Mutation_p.G53R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	53					mitosis	cytoplasm|nucleus	calmodulin binding	p.G53W(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGAACGTCCCCGAAGCAAAGG	0.677000													21	151					0	0	0.00047179	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120337	62120337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:62120337C>T	ENST00000217182.3	-	7	1363	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	EEF1A2_ENST00000298049.7_Missense_Mutation_p.A400T	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	400						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCCACGATGGCCGCGTCTCCA	0.637000													127	39					0	0	0.000781405	0	0
COL9A3	1299	broad.mit.edu	37	20	61450608	61450608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:61450608C>T	ENST00000343916.3	+	4	221	c.218C>T	c.(217-219)cCa>cTa	p.P73L		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	73	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGGGAAACCAGGAGAGGCT	0.692000													21	53					0	0	0.00047179	0	0
DNAH1	25981	broad.mit.edu	37	3	52409265	52409265	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:52409265A>C	ENST00000420323.2	+	45	7256	c.6995A>C	c.(6994-6996)aAg>aCg	p.K2332T		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2332	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGCCTTCAAGAACCTAGTG	0.552000													4	18					0	0	0.000602214	0	0
NLRP14	338323	broad.mit.edu	37	11	7064040	7064040	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:7064040C>T	ENST00000299481.4	+	4	1129	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	261	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTGACAGTTTCGATGAACTGA	0.458000													12	87					0	0	0.000978159	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				49	49					0	0	0.000781405	0	0
LPHN2	23266	broad.mit.edu	37	1	82408687	82408687	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:82408687G>A	ENST00000370728.1	+	8	1077	c.432G>A	c.(430-432)gtG>gtA	p.V144V	LPHN2_ENST00000359929.3_Silent_p.V144V|LPHN2_ENST00000370730.1_Silent_p.V144V|LPHN2_ENST00000271029.4_Silent_p.V144V|LPHN2_ENST00000335786.5_Silent_p.V144V|LPHN2_ENST00000370723.1_Silent_p.V144V|LPHN2_ENST00000319517.6_Silent_p.V144V|LPHN2_ENST00000394879.1_Silent_p.V144V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Silent_p.V144V|LPHN2_ENST00000370725.1_Silent_p.V144V|LPHN2_ENST00000370721.1_Silent_p.V148V|LPHN2_ENST00000370713.1_Silent_p.V144V|LPHN2_ENST00000370715.1_Silent_p.V144V|LPHN2_ENST00000370717.2_Silent_p.V144V			O95490	LPHN2_HUMAN	latrophilin 2	144	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGCAATTGTGGACTCACCAT	0.408000													28	100					0	0	0.001512	0	0
PDE1C	5137	broad.mit.edu	37	7	31862791	31862791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:31862791G>A	ENST00000396184.3	-	15	1682	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	PDE1C_ENST00000321453.7_Missense_Mutation_p.P493L|PDE1C_ENST00000396182.2_Missense_Mutation_p.P493L|PDE1C_ENST00000396191.1_Missense_Mutation_p.P493L|PDE1C_ENST00000396193.1_Missense_Mutation_p.P553L	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	493	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATTGTTGATCGGGGCACTTCC	0.468000													16	66					0	0	0.000308642	0	0
A1CF	29974	broad.mit.edu	37	10	52596009	52596009	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:52596009G>A	ENST00000395489.2	-	8	804	c.408C>T	c.(406-408)atC>atT	p.I136I	A1CF_ENST00000282641.2_Silent_p.I143I|A1CF_ENST00000373995.3_Silent_p.I151I|A1CF_ENST00000373997.3_Silent_p.I143I|A1CF_ENST00000373993.1_Silent_p.I143I|A1CF_ENST00000395495.1_Silent_p.I143I|A1CF_ENST00000374001.1_Silent_p.I143I	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	143	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGGTTTTTGGGATGCCCCCAA	0.448000													12	49					0	0	0.000978159	0	0
NR1H2	7376	broad.mit.edu	37	19	50881460	50881460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:50881460C>T	ENST00000253727.5	+	5	471	c.236C>T	c.(235-237)cCg>cTg	p.P79L	NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000598168.1_Missense_Mutation_p.P79L|NR1H2_ENST00000599105.1_Missense_Mutation_p.P79L|NR1H2_ENST00000593926.1_Missense_Mutation_p.P79L|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	79					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.P79Q(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGCCCAGCCCCGAAGATGCTG	0.602000													39	151					0	0	0.00148497	0	0
KIT	3815	broad.mit.edu	37	4	55561754	55561754	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:55561754C>T	ENST00000288135.5	+	2	241	c.144C>T	c.(142-144)gtC>gtT	p.V48V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	48	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTAATAGTCCGCGTGGGCG	0.468000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				16	36					0	0	0.000566183	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904758	73904758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:73904758G>A	ENST00000342056.2	+	15	2875	c.2477G>A	c.(2476-2478)aGc>aAc	p.S826N	KCNQ5_ENST00000403813.2_Missense_Mutation_p.S798N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S807N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S807N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S817N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S697N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S808N	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	807					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATGAGGAAAAGCTTTGACATG	0.493000													16	60					0	0	0.00074312	0	0
GRIA1	2890	broad.mit.edu	37	5	153030046	153030046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:153030046C>T	ENST00000285900.5	+	4	960	c.617C>T	c.(616-618)tCa>tTa	p.S206L	GRIA1_ENST00000521843.2_Missense_Mutation_p.S137L|GRIA1_ENST00000518142.1_Missense_Mutation_p.S126L|GRIA1_ENST00000448073.4_Missense_Mutation_p.S216L|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.S206L|GRIA1_ENST00000518783.1_Missense_Mutation_p.S216L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	206					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACTGTGAATCAGAACGCCTC	0.527000													15	50					0	0	0.000958276	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354186	17354186	+	RNA	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:17354186C>T	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							TGTGCAGTTCCAGTAGTGACT	0.443000													13	88					0	0	0.000219431	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880571	42880571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:42880571G>A	ENST00000431473.3	+	5	1231	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	368					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CACAATGGGGGCCCCACCCTC	0.483000													15	83					0	0	0.000566183	0	0
CEP68	23177	broad.mit.edu	37	2	65299569	65299569	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:65299569T>C	ENST00000377990.2	+	3	1542	c.1339T>C	c.(1339-1341)Tcg>Ccg	p.S447P	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_Missense_Mutation_p.S59P|CEP68_ENST00000546106.1_Missense_Mutation_p.S447P|CEP68_ENST00000260569.4_Missense_Mutation_p.S447P|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	447					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGGGTGGCCCTCGCCCAGGCC	0.607000													9	34					0	0	0.000442599	0	0
ECEL1	9427	broad.mit.edu	37	2	233347174	233347174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:233347174G>A	ENST00000304546.1	-	12	1960	c.1750C>T	c.(1750-1752)Ccc>Tcc	p.P584S	ECEL1_ENST00000409941.1_Missense_Mutation_p.P582S	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	584					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)		ATGCCCGCGGGGAACACTACA	0.607000													33	118					0	0	0.000814825	0	0
HYAL4	23553	broad.mit.edu	37	7	123508989	123508989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:123508989C>T	ENST00000223026.4	+	3	1300	c.662C>T	c.(661-663)cCt>cTt	p.P221L	HYAL4_ENST00000476325.1_Missense_Mutation_p.P221L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	221					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TATTTATATCCTGATTGCCAC	0.428000													18	80					0	0	0.000958276	0	0
LILRA5	353514	broad.mit.edu	37	19	54823255	54823255	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:54823255C>T	ENST00000301219.3	-	4	407	c.288G>A	c.(286-288)aaG>aaA	p.K96K	LILRA5_ENST00000432233.3_Silent_p.K96K|LILRA5_ENST00000446712.3_Silent_p.K84K|LILRA5_ENST00000346508.3_Silent_p.K84K|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	96	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCTTGTTCTTGGGCTCCA	0.587000													43	164					0	0	0.000589545	0	0
GFPT2	9945	broad.mit.edu	37	5	179729450	179729450	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:179729450G>A	ENST00000253778.8	-	18	2146	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	659	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CAGCCAGGTGGAAGGACAGCA	0.502000													6	49					0	0	0.00116845	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162172	90162172	+	RNA	SNP	T	T	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:90162172T>C	ENST00000564451.1	+	0	1525				TUBB8P7_ENST00000567960.1_RNA																							GATGGCTGCCTGTGACCCCCG	0.567000													9	96					0	0	0.000219431	0	0
SMC5	23137	broad.mit.edu	37	9	72915040	72915040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr9:72915040C>T	ENST00000361138.5	+	10	1446	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	463	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCCGTGACACGTATGATGCT	0.353000													21	37					0	0	0.00152264	0	0
VPS13B	157680	broad.mit.edu	37	8	100847802	100847802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:100847802C>T	ENST00000358544.2	+	54	9964	c.9853C>T	c.(9853-9855)Ccc>Tcc	p.P3285S	VPS13B_ENST00000357162.2_Missense_Mutation_p.P3260S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3285					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAAAAATTCCCTCCGAGTG	0.388000													16	95					0	0	0.00074312	0	0
ELK1	2002	broad.mit.edu	37	X	47498705	47498705	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:47498705G>A	ENST00000247161.3	-	3	342	c.243C>T	c.(241-243)ttC>ttT	p.F81F	ELK1_ENST00000376983.3_Silent_p.F81F|ELK1_ENST00000592066.1_Silent_p.F27F|ELK1_ENST00000343894.4_Silent_p.F81F	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	81					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						ACTTGTAGACGAACTTCTGGC	0.597000													10	8					0	0	0.00185496	0	0
POLG	5428	broad.mit.edu	37	15	89861875	89861875	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:89861875C>A	ENST00000268124.5	-	21	3712	c.3379G>T	c.(3379-3381)Ggg>Tgg	p.G1127W	POLG_ENST00000442287.2_Missense_Mutation_p.G1127W	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1127					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CAGAAGCGCCCATCTATGGCA	0.562000								DNA polymerases (catalytic subunits)					6	91					3.59834e-05	0.000278632	0.00116845	1	0
AOC3	8639	broad.mit.edu	37	17	41004605	41004605	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:41004605C>T	ENST00000308423.2	+	1	1405	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	415					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACTGGCACTTCCTTTTGGAGT	0.592000													15	62					0	0	0.000308642	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40840998	40840998	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:40840998C>T	ENST00000264638.4	+	10	1778	c.1561C>T	c.(1561-1563)Ctg>Ttg	p.L521L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	521	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAACCTGACTCTGGTGGAGGG	0.562000													14	76					0	0	0.000219431	0	0
GPR112	139378	broad.mit.edu	37	X	135453677	135453677	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:135453677C>T	ENST00000394143.1	+	14	7878	c.7587C>T	c.(7585-7587)gcC>gcT	p.A2529A	GPR112_ENST00000287534.4_Silent_p.A2327A|GPR112_ENST00000370652.1_Silent_p.A2529A|GPR112_ENST00000412101.1_Silent_p.A2324A|GPR112_ENST00000394141.1_Silent_p.A2324A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2529					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAATTCCGCCTCTGATCTGC	0.318000													13	25					0	0	0.00136819	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863951	6863951	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:6863951C>T	ENST00000307659.5	+	7	2297	c.1842C>T	c.(1840-1842)ctC>ctT	p.L614L	KIAA0232_ENST00000425103.1_Silent_p.L614L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	614							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAGTTAGACTCTCTCCCATCT	0.473000													14	48					0	0	0.000308642	0	0
OTOGL	283310	broad.mit.edu	37	12	80733024	80733024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:80733024C>T	ENST00000458043.2	+	42	5009	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1656F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACTTGTCATCCTACACAGAA	0.353000													58	222					0	0	0.000781405	0	0
SLIT1	6585	broad.mit.edu	37	10	98823948	98823948	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:98823948G>A	ENST00000266058.4	-	7	851	c.606C>T	c.(604-606)aaC>aaT	p.N202N	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.N202N|SLIT1_ENST00000371070.4_Silent_p.N202N	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	202					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGGCATATGGTTGAAGCTGG	0.577000													6	22					0	0	0.000157383	0	0
GAR1	54433	broad.mit.edu	37	4	110737533	110737533	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:110737533C>T	ENST00000226796.6	+	2	477	c.214_splice	c.e2+1	p.V71_splice	GAR1_ENST00000394631.3_Splice_Site_p.V71_splice	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	71					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AACGTGTAGTCTGTATGCAGT	0.532000													33	98					0	0	0.000953801	0	0
MYRF	745	broad.mit.edu	37	11	61533566	61533566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:61533566C>T	ENST00000278836.5	+	3	367	c.271C>T	c.(271-273)Cca>Tca	p.P91S	MYRF_ENST00000265460.5_Missense_Mutation_p.P82S	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TGGTCCCCTCCCACCCCCGGG	0.736000													4	21					0	0	0.00024832	0	0
CRB1	23418	broad.mit.edu	37	1	197390977	197390977	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:197390977G>A	ENST00000367397.1	+	2	1020	c.162G>A	c.(160-162)aaG>aaA	p.K54K	CRB1_ENST00000367400.3_Silent_p.K673K|CRB1_ENST00000544212.1_Silent_p.K154K|CRB1_ENST00000535699.1_Silent_p.K604K|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Silent_p.K561K|CRB1_ENST00000538660.1_Silent_p.K673K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	673	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGTGAGAAAGGATTGGTGTG	0.478000													17	67					0	0	0.000566183	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098748	92098748	+	Silent	SNP	T	T	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:92098748T>C	ENST00000493463.2	-	1	1871	c.948A>G	c.(946-948)aaA>aaG	p.K316K	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Silent_p.K316K	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		316					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						tgggtactcttttgttgcggg	0.433000													27	144					0	0	0.00106085	0	0
EGLN1	54583	broad.mit.edu	37	1	231509788	231509788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:231509788G>A	ENST00000366641.3	-	2	4104	c.949C>T	c.(949-951)Cca>Tca	p.P317S	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	317	Fe2OG dioxygenase.		P -> R (in ECYT3; marked decrease in enzyme activity).		negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	TCTCCATTTGGATTATCAACA	0.333000													9	44					0	0	0.000442599	0	0
SCN11A	11280	broad.mit.edu	37	3	38924754	38924754	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:38924754G>A	ENST00000302328.3	-	18	3387	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	SCN11A_ENST00000444237.2_Silent_p.I1063I|SCN11A_ENST00000450244.1_Silent_p.I1063I|SCN11A_ENST00000456224.3_Silent_p.I1025I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1063					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)	GAATCACAAAGATAATAAAGC	0.498000													12	43					0	0	0.00185496	0	0
GPR179	440435	broad.mit.edu	37	17	36498878	36498878	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:36498878C>T	ENST00000342292.4	-	1	815		c.e1+1			NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179							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)				AACCCACTTACCTGACTTCTG	0.562000													29	110					0	0	0.00058488	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55049184	55049184	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:55049184G>A	ENST00000335056.3	+	6	987	c.948_splice	c.e6-1	p.E317_splice	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTTTTCCTAGGAAACACTAAG	0.413000													17	55					0	0	0.00074312	0	0
ACACA	31	broad.mit.edu	37	17	35545396	35545396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:35545396C>T	ENST00000353139.5	-	39	5078	c.4597G>A	c.(4597-4599)Gta>Ata	p.V1533I	ACACA_ENST00000335166.5_Missense_Mutation_p.V1418I|ACACA_ENST00000394406.2_Missense_Mutation_p.V1496I|ACACA_ENST00000360679.3_Missense_Mutation_p.V1438I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1496					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACCGCATTACCATGCTCCGC	0.468000													20	78					0	0	0.00152264	0	0
CT47B1	643311	broad.mit.edu	37	X	120007782	120007782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:120007782C>T	ENST00000371311.3	-	2	1122	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	290										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ACCTTGTTTTCCACATCCTTC	0.453000													191	227					0	0	0.000781405	0	0
PDE11A	50940	broad.mit.edu	37	2	178592803	178592803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:178592803C>T	ENST00000286063.5	-	11	2203	c.1886G>A	c.(1885-1887)cGg>cAg	p.R629Q	PDE11A_ENST00000389683.3_Missense_Mutation_p.R185Q|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271Q|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271Q|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379Q	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	629					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R629L(1)|p.R379L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CATGAACATCCGGAGAGCAGC	0.463000									Primary Pigmented Nodular Adrenocortical Disease, Familial				16	39					0	0	0.000422831	0	0
ZNF716	441234	broad.mit.edu	37	7	57528514	57528514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:57528514G>A	ENST00000420713.1	+	4	459	c.347G>A	c.(346-348)gGa>gAa	p.G116E		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGAAGATATGGAAAATGTGGA	0.363000													11	39					0	0	0.000673444	0	0
NR1H2	7376	broad.mit.edu	37	19	50881459	50881459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:50881459C>T	ENST00000253727.5	+	5	470	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000598168.1_Missense_Mutation_p.P79S|NR1H2_ENST00000599105.1_Missense_Mutation_p.P79S|NR1H2_ENST00000593926.1_Missense_Mutation_p.P79S|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	79					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGGCCCAGCCCCGAAGATGCT	0.602000													39	150					0	0	0.00148497	0	0
PNPLA4	8228	broad.mit.edu	37	X	7870112	7870112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:7870112G>A	ENST00000381042.4	-	6	718	c.548C>T	c.(547-549)cCc>cTc	p.P183L	PNPLA4_ENST00000537427.1_Missense_Mutation_p.P96L|PNPLA4_ENST00000444736.1_Missense_Mutation_p.P183L	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	183					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TCCACTGAAGGGGGAGATGGT	0.532000													22	20					0	0	0.000295444	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074637	106074637	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:106074637G>A	ENST00000278071.2	-	3	1625	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	ITPRIP_ENST00000358187.2_Silent_p.F391F|ITPRIP_ENST00000337478.1_Silent_p.F391F	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	391						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCGTCCTGAGGAAGTGTCGCT	0.617000													17	40					0	0	0.000422831	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	122					0	0	0.000602214	0	0
HSPG2	3339	broad.mit.edu	37	1	22186396	22186396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:22186396G>A	ENST00000374695.3	-	41	5193	c.5114C>T	c.(5113-5115)cCc>cTc	p.P1705L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1705	Ig-like C2-type 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAAGTAGTGGGGTGGGCTCCC	0.642000													10	28					0	0	0.000442599	0	0
NLRP3	114548	broad.mit.edu	37	1	247587254	247587254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:247587254G>A	ENST00000366497.2	+	4	1289	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	NLRP3_ENST00000336119.3_Missense_Mutation_p.R170Q|NLRP3_ENST00000366496.2_Missense_Mutation_p.R170Q|NLRP3_ENST00000391828.3_Missense_Mutation_p.R170Q|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.R170Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.R170Q	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	170					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGCTACACACGACTGCGTCTC	0.552000													8	20					0	0	0.000157383	0	0
CCDC141	285025	broad.mit.edu	37	2	179720182	179720182	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:179720182C>T	ENST00000420890.2	-	19	3069	c.2952G>A	c.(2950-2952)ttG>ttA	p.L984L	CCDC141_ENST00000295723.5_Silent_p.L409L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	409							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATGACTTCCAAAAGGACAT	0.343000													10	81					0	0	0.000442599	0	0
FOXA2	3170	broad.mit.edu	37	20	22562615	22562615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:22562615G>A	ENST00000419308.2	-	2	1449	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	FOXA2_ENST00000319993.4_Missense_Mutation_p.S422F|FOXA2_ENST00000377115.4_Missense_Mutation_p.S416F	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	416	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					AGGCATGGGGGAACCGTAGCC	0.637000													23	75					0	0	0.000720815	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473007	22473007	+	RNA	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:22473007G>A	ENST00000557788.2	-	0	263																											CTACTGATATGGTGACTCGAC	0.582000													29	278					0	0	0.00178596	0	0
TGS1	96764	broad.mit.edu	37	8	56715072	56715072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:56715072C>T	ENST00000260129.5	+	9	2383	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	636	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGGTCTGCCTCCTGAAATAGC	0.393000													15	63					0	0	0.000422831	0	0
PFKM	5213	broad.mit.edu	37	12	48537892	48537892	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:48537892G>A	ENST00000340802.6	+	22	2381	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	PFKM_ENST00000312352.7_Silent_p.G648G|PFKM_ENST00000359794.5_Silent_p.G648G|PFKM_ENST00000551804.1_Silent_p.G617G|PFKM_ENST00000395233.2_Silent_p.G617G|PFKM_ENST00000547587.1_Silent_p.G648G	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	648					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTGAGGAGGGGAAGGGCATCT	0.502000													34	113					0	0	0.000814825	0	0
BCAS1	8537	broad.mit.edu	37	20	52570129	52570129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:52570129C>T	ENST00000395961.3	-	11	1688	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	BCAS1_ENST00000434986.2_Missense_Mutation_p.E174K|BCAS1_ENST00000371435.2_Missense_Mutation_p.E430K|BCAS1_ENST00000371440.3_Missense_Mutation_p.E517K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	508						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGTTCATCTCGGCTGCTGAC	0.542000													11	340					0	0	0.000978159	0	0
FAM86EP	348926	broad.mit.edu	37	4	3948555	3948555	+	RNA	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:3948555C>T	ENST00000281228.8	-	0	830				FAM86EP_ENST00000313946.8_RNA																							GCCACGTAGACCTCAGGAGCC	0.642000													12	31					0	0	0.000978159	0	0
TMIE	259236	broad.mit.edu	37	3	46750656	46750656	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:46750656G>A	ENST00000326431.3	+	3	407	c.252G>A	c.(250-252)cgG>cgA	p.R84R		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	84			R -> W (in DFNB6; dbSNP:rs28942097).			integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		GTGTGCCACGGACCCGGAAGG	0.582000													12	55					0	0	0.00185496	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706224	41706224	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr13:41706224C>G	ENST00000379485.1	-	1	658	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E76Q	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	142							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TACAGGCGCTCCACGTTGGCC	0.612000													9	36					0	0	0.000673444	0	0
TRPC4	7223	broad.mit.edu	37	13	38266446	38266446	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr13:38266446C>T	ENST00000379705.3	-	4	1781	c.924G>A	c.(922-924)caG>caA	p.Q308Q	TRPC4_ENST00000379679.1_Silent_p.Q135Q|TRPC4_ENST00000355779.2_Silent_p.Q308Q|TRPC4_ENST00000379673.2_Silent_p.Q308Q|TRPC4_ENST00000447043.1_Silent_p.Q308Q|TRPC4_ENST00000358477.2_Silent_p.Q308Q|TRPC4_ENST00000338947.5_Silent_p.Q135Q|TRPC4_ENST00000379681.3_Silent_p.Q308Q|TRPC4_ENST00000426868.2_Silent_p.Q308Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	308					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATGCCAGCAGCTGTTGACAAT	0.443000													5	25					0	0	0.00116845	0	0
RELN	5649	broad.mit.edu	37	7	103230152	103230152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:103230152C>T	ENST00000428762.1	-	28	4195	c.4036G>A	c.(4036-4038)Gga>Aga	p.G1346R	RELN_ENST00000343529.5_Missense_Mutation_p.G1346R|RELN_ENST00000424685.2_Missense_Mutation_p.G1346R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1346					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTCGCATCCTTTGCCTGCA	0.468000													75	86					0	0	0.000781405	0	0
ALG10B	144245	broad.mit.edu	37	12	38714623	38714623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:38714623C>T	ENST00000308742.4	+	3	1346	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	344					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CACTTATGCTCATAAATACTT	0.313000													29	130					0	0	0.000409698	0	0
RUNX2	860	broad.mit.edu	37	6	45399682	45399682	+	Missense_Mutation	SNP	G	G	A	rs104893995		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:45399682G>A	ENST00000371438.1	+	3	864	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	RUNX2_ENST00000352853.5_Missense_Mutation_p.R237Q|RUNX2_ENST00000541979.1_Missense_Mutation_p.R237Q|RUNX2_ENST00000371436.6_Missense_Mutation_p.R169Q|RUNX2_ENST00000576263.1_Missense_Mutation_p.R169Q|RUNX2_ENST00000359524.5_Missense_Mutation_p.R155Q|RUNX2_ENST00000465038.2_Missense_Mutation_p.R169Q|RUNX2_ENST00000371432.3_Missense_Mutation_p.R155Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	169	Runt.		R -> P (in CLCD).|R -> Q (in CLCD).		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTCCGGAATGCCTCT	0.478000													22	104					0	0	0.000295444	0	0
DHRS3	9249	broad.mit.edu	37	1	12628431	12628431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:12628431C>T	ENST00000376223.2	-	6	1230	c.847G>A	c.(847-849)Gag>Aag	p.E283K		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	283					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGGATCTCCTCGAGTGCAGCC	0.527000													26	117					0	0	0.00178596	0	0
TKTL2	84076	broad.mit.edu	37	4	164394874	164394874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:164394874C>T	ENST00000280605.3	-	1	173	c.13G>A	c.(13-15)Gac>Aac	p.D5N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	5						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTTGGCGTCGTTGGCCATC	0.647000													7	31					0	0	8.12818e-05	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169804	90169804	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:90169804C>T	ENST00000333209.3	-	2	1976	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	486										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTTCAAATTTCCCCAATCCAT	0.448000													20	100					0	0	0.00188189	0	0
MICAL2	9645	broad.mit.edu	37	11	12248673	12248673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:12248673C>T	ENST00000256194.4	+	15	2278	c.1990C>T	c.(1990-1992)Cca>Tca	p.P664S	MICAL2_ENST00000379612.3_Missense_Mutation_p.P664S|MICAL2_ENST00000527546.1_Missense_Mutation_p.P664S|MICAL2_ENST00000537344.1_Missense_Mutation_p.P664S|MICAL2_ENST00000342902.5_Missense_Mutation_p.P664S	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	664						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGAGGACTCCACGGGTAAG	0.453000													8	31					0	0	0.000274275	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	45					0	0	0.00116845	0	0
SUSD2	56241	broad.mit.edu	37	22	24583578	24583578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr22:24583578C>T	ENST00000358321.3	+	12	2192	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	644	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCTACGATTCCTGGTTCCTG	0.622000													13	61					0	0	0.000308642	0	0
LCE1B	353132	broad.mit.edu	37	1	152785221	152785221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:152785221C>T	ENST00000360090.3	+	1	775	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	100	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	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)			AGCCAGCCCTCCGGGGGCTCC	0.622000													17	41					0	0	0.000958276	0	0
HNF1B	6928	broad.mit.edu	37	17	36104852	36104852	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:36104852G>A	ENST00000225893.4	-	1	385	c.24C>T	c.(22-24)ctC>ctT	p.L8L	HNF1B_ENST00000561193.1_Silent_p.L8L|HNF1B_ENST00000427275.2_Silent_p.L8L|HNF1B_ENST00000560016.1_Silent_p.L8L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	8	Dimerization (By similarity).				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTTCTTGCTGGAGCGACGTGA	0.612000													64	200					0	0	0.000781405	0	0
ESPN	83715	broad.mit.edu	37	1	6488372	6488372	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:6488372C>T	ENST00000377828.1	+	2	549	c.381C>T	c.(379-381)ggC>ggT	p.G127G		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	127					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCATCATGGCGGTGGGGACC	0.632000													24	79					0	0	0.000586117	0	0
LILRA1	11024	broad.mit.edu	37	19	55107797	55107797	+	Missense_Mutation	SNP	C	C	T	rs143023552	byFrequency	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:55107797C>T	ENST00000251372.3	+	7	1284	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	368	Ig-like C2-type 4.				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)		TGCCCCCCTCCGTCTCAGATC	0.577000													16	103					0	0	0.00074312	0	0
CCDC141	285025	broad.mit.edu	37	2	179720181	179720181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:179720181C>T	ENST00000420890.2	-	19	3070	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E410K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	410							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCATGACTTCCAAAAGGACA	0.343000													10	81					0	0	0.000442599	0	0
ZNF217	7764	broad.mit.edu	37	20	52193137	52193137	+	Silent	SNP	T	T	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:52193137T>C	ENST00000371471.2	-	4	2591	c.2166A>G	c.(2164-2166)ccA>ccG	p.P722P	ZNF217_ENST00000302342.3_Silent_p.P722P			O75362	ZN217_HUMAN	zinc finger protein 217	722					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTAAAACTTCTGGATAAAATG	0.408000													17	187					0	0	0.000566183	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686323	4686323	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:4686323G>A	ENST00000270560.3	+	4	601	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	190						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCGATTGCAGGAAAAAACAGG	0.562000													14	66					0	0	0.00074312	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681065	176681065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:176681065G>A	ENST00000367662.3	+	12	4910	c.3746G>A	c.(3745-3747)aGg>aAg	p.R1249K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1249					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						CAGGATGACAGGAGTGAACAG	0.453000													19	51					0	0	0.00121646	0	0
TMC5	79838	broad.mit.edu	37	16	19471642	19471642	+	Silent	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:19471642G>A	ENST00000396229.2	+	6	1883	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	TMC5_ENST00000381414.4_Silent_p.E378E|TMC5_ENST00000219821.5_Silent_p.E132E|TMC5_ENST00000564959.1_Silent_p.E40E|TMC5_ENST00000561503.1_Silent_p.E19E|TMC5_ENST00000542583.2_Silent_p.E378E|TMC5_ENST00000541464.1_Silent_p.E378E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	378						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCATGGAAGAGAAAAGGAACC	0.398000													6	28					0	0	0.00116845	0	0
MAPK14	1432	broad.mit.edu	37	6	36070421	36070421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:36070421C>T	ENST00000229795.3	+	10	1283	c.836C>T	c.(835-837)cCc>cTc	p.P279L	MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229794.4_Missense_Mutation_p.P279L|MAPK14_ENST00000468133.1_Missense_Mutation_p.P202L	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	279	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GGTGCCAATCCCCTGGGTAAG	0.363000													15	101					0	0	0.000566183	0	0
ABCB8	11194	broad.mit.edu	37	7	150739164	150739164	+	Silent	SNP	C	C	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:150739164C>A	ENST00000358849.4	+	14	1827	c.1734C>A	c.(1732-1734)acC>acA	p.T578T	ABCB8_ENST00000542328.1_Silent_p.T490T|ABCB8_ENST00000498578.1_Silent_p.T578T|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Silent_p.T595T	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	595	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTCATCACCAGCTTCCCCG	0.597000													8	99					1.12685e-05	8.76439e-05	0.000274275	1	0
CROCCP2	84809	broad.mit.edu	37	1	16952896	16952896	+	RNA	SNP	G	G	A	rs1762945	by1000genomes	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:16952896G>A	ENST00000412962.1	-	0	720																											CAAGGCTCTCGTTGAGGGCGC	0.637000													17	94					0	0	0.00074312	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110467013	110467013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:110467013G>A	ENST00000378402.5	+	45	6910	c.6806G>A	c.(6805-6807)cGa>cAa	p.R2269Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2269	G8 1.				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)			GGTCACCTGCGATCTCCTGAG	0.493000										HNSCC(38;0.096)			13	78					0	0	0.00136819	0	0
PENK	5179	broad.mit.edu	37	8	57353905	57353905	+	Missense_Mutation	SNP	C	C	T	rs149967411		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:57353905C>T	ENST00000314922.3	-	2	806	c.730G>A	c.(730-732)Gac>Aac	p.D244N	PENK_ENST00000451791.2_Missense_Mutation_p.D244N	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	244					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTTCTTCGTCGGAGGGCAGA	0.493000													23	97					0	0	0.000295444	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175394	143175394	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:143175394C>T	ENST00000408916.1	+	1	429	c.429C>T	c.(427-429)atC>atT	p.I143I	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	143					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCTCCTTCATCATAACCCTGC	0.453000													9	74					0	0	0.000274275	0	0
PRLR	5618	broad.mit.edu	37	5	35086320	35086320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:35086320G>A	ENST00000382002.5	-	4	619	c.193C>T	c.(193-195)Cac>Tac	p.H65Y	PRLR_ENST00000511486.1_Intron|PRLR_ENST00000513753.1_Missense_Mutation_p.H65Y|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.H65Y|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000542609.1_Missense_Mutation_p.H65Y|PRLR_ENST00000231423.3_Missense_Mutation_p.H65Y|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.H65Y	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	65	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTTCCCTGTGGTAAGTCAGT	0.473000													15	96					0	0	0.000566183	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601355	46601355	+	Silent	SNP	C	C	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:46601355C>T	ENST00000398637.5	-	7	1132	c.438G>A	c.(436-438)ggG>ggA	p.G146G	SLC38A1_ENST00000549049.1_Silent_p.G146G|SLC38A1_ENST00000546893.1_Silent_p.G146G|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Silent_p.G146G|SLC38A1_ENST00000552197.1_Silent_p.G146G	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	146					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTACGAACTTCCCTGTGGTGC	0.408000													22	88					0	0	0.000375601	0	0
APBB1	322	broad.mit.edu	37	11	6422601	6422601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:6422601G>A	ENST00000389906.2	-	10	1661	c.1562C>T	c.(1561-1563)tCt>tTt	p.S521F	APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.S519F|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000530885.1_Missense_Mutation_p.S299F|APBB1_ENST00000299402.6_Missense_Mutation_p.S519F	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	521					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACAAGTTTAGAGTGGTCCAG	0.542000													11	34					0	0	0.000978159	0	0
PI4K2B	55300	broad.mit.edu	37	4	25260689	25260689	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:25260689T>G	ENST00000264864.6	+	5	976	c.787T>G	c.(787-789)Tac>Gac	p.Y263D	PI4K2B_ENST00000512921.1_Missense_Mutation_p.Y167D	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	263	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TGTTGAAGGTTACAAGGAGGC	0.299000													7	65					0	0	0.000274275	0	0
TLL1	7092	broad.mit.edu	37	4	167020441	167020441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:167020441G>A	ENST00000061240.2	+	20	3316	c.2669G>A	c.(2668-2670)cGa>cAa	p.R890Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R913Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	890	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGGCGGACGATTGAAAGCA	0.413000													20	77					0	0	0.00121646	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													4	7	---	---	---	---					
CEP68	23177	broad.mit.edu	37	2	65299562	65299563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:65299562_65299563insT	ENST00000377990.2	+	3	1535_1536	c.1332_1333insT	c.(1330-1335)ggggccfs	p.A445fs	CEP68_ENST00000537589.1_Frame_Shift_Ins_p.A57fs|CEP68_ENST00000546106.1_Frame_Shift_Ins_p.A445fs|CEP68_ENST00000260569.4_Frame_Shift_Ins_p.A445fs|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	445					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGGACAGAGGGTGGCCCTCGCC	0.624													10	36	---	---	---	---					
MRAS	22808	broad.mit.edu	37	3	138121035	138121037	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:138121035_138121037delAGA	ENST00000289104.4	+	6	1198_1200	c.551_553delAGA	c.(550-555)cag>c	p.QK184del	MRAS_ENST00000423968.2_In_Frame_Del_p.QK184del|MRAS_ENST00000464896.1_In_Frame_Del_p.QK108del|MRAS_ENST00000474559.1_In_Frame_Del_p.QK184del	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	184					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GAAAAAAGCCAGAAGAAGAAGAA	0.522													7	568	---	---	---	---					
CPEB2	132864	broad.mit.edu	37	4	15063885	15063886	+	Splice_Site	INS	-	-	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:15063885_15063886insT	ENST00000538197.1	+	11	2877		c.e11+1		CPEB2_ENST00000442003.2_Splice_Site|CPEB2_ENST00000382395.3_Splice_Site|CPEB2_ENST00000382401.3_Splice_Site|CPEB2_ENST00000507071.1_Splice_Site|CPEB2_ENST00000259997.5_Splice_Site|CPEB2_ENST00000345451.3_Splice_Site|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000541112.1_Splice_Site|RP11-665G4.1_ENST00000502344.1_RNA	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2						regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TGATAAACGTGTAAGTTGCATA	0.381													26	136	---	---	---	---					
RP11-597D13.7	0	broad.mit.edu	37	4	159199652	159199652	+	RNA	DEL	A	A	-			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:159199652delA	ENST00000512016.1	+	0	3014																											CTACAAGCCTAAAAAAAGGTT	0.353													7	496	---	---	---	---					
PSCA	8000	broad.mit.edu	37	8	143763499	143763500	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:143763499_143763500insG	ENST00000301258.4	+	3	377_378	c.294_295insG	c.(292-297)ctcgctfs	p.A99fs		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	99										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGCCATCCTTGCGCTGCTCCC	0.678													10	101	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													2	4	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32126912	32126912	+	RNA	DEL	A	A	-			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:32126912delA	ENST00000564145.1	-	0	456																											TATTTTGCCCACCCGCCGCCG	0.602													5	6	---	---	---	---					
TRIM65	201292	broad.mit.edu	37	17	73888441	73888443	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:73888441_73888443delCTC	ENST00000269383.3	-	3	714_716	c.649_651delGAG	c.(649-651)del	p.E217del		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	217						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCCGCTGCTCCTCGTCTCGA	0.640													12	39	---	---	---	---