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
AFF3	3899	broad.mit.edu	37	2	100627997	100627997	+	Silent	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:100627997T>C	ENST00000356421.2	-	3	233	c.90A>G	c.(88-90)ctA>ctG	p.L30L	AFF3_ENST00000409579.1_Silent_p.L30L|AFF3_ENST00000409236.1_Intron|AFF3_ENST00000317233.4_Intron	NM_001025108.1	NP_001020279.1	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	17					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L30L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATTCCACAACTAGAGAGTCAT	0.438000													32	141					0	0	0.005524	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134129	91134129	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:91134129C>A	ENST00000373094.1	+	2	3735	c.2890C>A	c.(2890-2892)Caa>Aaa	p.Q964K	PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q964K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Q964K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.Q964K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q964K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q964K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q964K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q964K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.Q964K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	964					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.Q964K(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACATCATCCAAGAACTGCC	0.512000													86	216					5.52034e-35	8.9682e-35	0.003610	1	0
TRPC5	7224	broad.mit.edu	37	X	111090456	111090456	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:111090456A>G	ENST00000262839.2	-	6	2504	c.1586T>C	c.(1585-1587)cTa>cCa	p.L529P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	529					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.L529P(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCAAAAGCTAGTAGTACCAG	0.458000													114	191					0	0	0.003610	0	0
C1orf112	55732	broad.mit.edu	37	1	169816850	169816850	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:169816850C>T	ENST00000286031.6	+	20	2664	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	C1orf112_ENST00000359326.4_Missense_Mutation_p.S655L|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	655				S -> L (in Ref. 2; BAA91761).				p.S655L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGCAGACCTCGCTACTTAAA	0.358000													55	119					0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139635992	139635992	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:139635992C>A	ENST00000303045.6	-	52	4200	c.3754G>T	c.(3754-3756)Ggt>Tgt	p.G1252C	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1232C|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1252	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1252C(1)|p.G1252R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGGGGACCCGGCTTTCCA	0.443000										HNSCC(7;0.00092)			176	442					1.4818e-78	2.57423e-78	0.003610	1	0
TCF23	150921	broad.mit.edu	37	2	27375604	27375604	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:27375604G>C	ENST00000296096.5	+	3	644	c.514G>C	c.(514-516)Gat>Cat	p.D172H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	172					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.D172H(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTACTCCGATCTTGACTC	0.567000													14	68					0	0	0.001855	0	0
THOC2	57187	broad.mit.edu	37	X	122765637	122765637	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:122765637T>A	ENST00000245838.8	-	22	2414	c.2383A>T	c.(2383-2385)Aag>Tag	p.K795*	THOC2_ENST00000355725.4_Nonsense_Mutation_p.K795*|THOC2_ENST00000491737.1_Nonsense_Mutation_p.K680*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	795					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.K795*(1)|p.K716*(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGCACTCGCTTTATATAATCT	0.363000													86	367					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168098402	168098402	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:168098402C>A	ENST00000409195.1	+	8	1247	c.1158C>A	c.(1156-1158)acC>acA	p.T386T	XIRP2_ENST00000409605.1_Silent_p.T164T|XIRP2_ENST00000409043.1_Silent_p.T386T|XIRP2_ENST00000409728.1_Silent_p.T419T|XIRP2_ENST00000295237.9_Silent_p.T386T|XIRP2_ENST00000409756.2_Silent_p.T386T|XIRP2_ENST00000420519.1_Silent_p.T419T|XIRP2_ENST00000409273.1_Silent_p.T164T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	211					actin cytoskeleton organization	cell junction	actin binding	p.T419T(1)|p.T386T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATGACAACCCCAGCCAAGC	0.348000													56	94					2.50483e-33	4.05543e-33	0.003610	1	0
CTPS2	56474	broad.mit.edu	37	X	16635352	16635352	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:16635352G>C	ENST00000443824.1	-	16	2210	c.1467C>G	c.(1465-1467)atC>atG	p.I489M	CTPS2_ENST00000359276.4_Missense_Mutation_p.I489M|CTPS2_ENST00000380241.3_Missense_Mutation_p.I489M	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	489	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	p.I489M(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CAAATTGTTTGATCAGGTTAG	0.418000													42	158					0	0	0.009718	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39440105	39440105	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr22:39440105C>T	ENST00000381565.2	+	3	293	c.189C>T	c.(187-189)atC>atT	p.I63I	APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_Intron|APOBEC3F_ENST00000308521.5_Intron	NM_001006666.1	NP_001006667.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	0					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	p.I63I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ggtctttcatcagagccccat	0.517000													5	2					0	0	0.000602	0	0
COL1A2	1278	broad.mit.edu	37	7	94042429	94042429	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:94042429C>T	ENST00000297268.6	+	26	2009	c.1538C>T	c.(1537-1539)gCt>gTt	p.A513V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	513					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.A513V(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAAGGTCATGCTGGTCTTGCT	0.383000										HNSCC(75;0.22)			5	426					0	0	0.000602	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128830	68128830	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:68128830G>T	ENST00000585558.1	+	4	1095	c.707G>T	c.(706-708)tGg>tTg	p.W236L	KCNJ16_ENST00000392671.1_Missense_Mutation_p.W201L|KCNJ16_ENST00000586462.1_Missense_Mutation_p.W240L|KCNJ16_ENST00000392670.1_Missense_Mutation_p.W201L|KCNJ16_ENST00000283936.1_Missense_Mutation_p.W201L|KCNJ16_ENST00000589377.1_Missense_Mutation_p.W201L			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	201					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.W201L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGCCTCATGTGGCGCATTGGT	0.493000													43	55					1.8453e-21	2.6617e-21	0.010771	1	0
DSG3	1830	broad.mit.edu	37	18	29027857	29027857	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr18:29027857C>A	ENST00000257189.4	+	1	100	c.17C>A	c.(16-18)cCc>cAc	p.P6H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	6					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P6L(1)|p.P6H(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGGCTCTTCCCCAGAACTACA	0.458000													12	10					2.61681e-11	3.19386e-11	0.002450	1	0
BRINP2	57795	broad.mit.edu	37	1	177250277	177250277	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:177250277C>G	ENST00000361539.4	+	8	2277	c.1965C>G	c.(1963-1965)gaC>gaG	p.D655E	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		655						extracellular region		p.D655E(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCCTGGATGACAGCTCCAATG	0.458000													40	84					0	0	0.011902	0	0
WNK3	65267	broad.mit.edu	37	X	54280510	54280510	+	Splice_Site	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:54280510T>A	ENST00000354646.2	-	13	2689		c.e13-2		WNK3_ENST00000375159.2_Splice_Site|WNK3_ENST00000375169.3_Splice_Site	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3						intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.?(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGTTGATACCTGAGTACAAAC	0.408000													60	169					0	0	0.003610	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156911687	156911687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:156911687C>A	ENST00000368194.3	-	34	4460	c.3421G>T	c.(3421-3423)Gag>Tag	p.E1141*	ARHGEF11_ENST00000315174.8_Nonsense_Mutation_p.E517*|ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.E1101*|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1101					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.E1141*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGCTGGCTCCCGGGGACCT	0.632000													55	81					6.83704e-37	1.11836e-36	0.003610	1	0
SCAF1	58506	broad.mit.edu	37	19	50148669	50148669	+	Splice_Site	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:50148669G>A	ENST00000360565.3	+	3	290		c.e3+1			NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1						mRNA processing|RNA splicing	nucleus	RNA binding	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AATGATAAAGGTATGGCGGCT	0.577000													46	43					0	0	0.003610	0	0
CDH23	64072	broad.mit.edu	37	10	73553131	73553131	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:73553131G>T	ENST00000224721.6	+	47	6466	c.6461G>T	c.(6460-6462)cGg>cTg	p.R2154L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2149	Cadherin 20.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R2154L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCACCGACCGGGGCACCGTT	0.582000													35	65					2.75727e-19	3.87157e-19	0.004878	1	0
GABRQ	55879	broad.mit.edu	37	X	151821480	151821480	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:151821480C>T	ENST00000370306.2	+	9	1655	c.1635C>T	c.(1633-1635)gcC>gcT	p.A545A		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	545						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.A545A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCTTGCCATTAAGGAGC	0.522000													49	94					0	0	0.003610	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32586469	32586469	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:32586469C>A	ENST00000273130.4	-	4	570	c.467G>T	c.(466-468)tGg>tTg	p.W156L	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	156					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	p.W156L(1)		kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CAAAGCAGTCCAAGGCTTTGA	0.398000													58	47					3.00063e-23	4.47742e-23	0.003610	1	0
SNX31	169166	broad.mit.edu	37	8	101629909	101629909	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:101629909G>C	ENST00000311812.2	-	5	521	c.371C>G	c.(370-372)cCc>cGc	p.P124R	SNX31_ENST00000428383.2_Missense_Mutation_p.P25R	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	124					cell communication|protein transport		phosphatidylinositol binding	p.P124R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTGTTCATTGGGCAGAAATAT	0.338000													136	105					0	0	0.003610	0	0
SOGA2	23255	broad.mit.edu	37	18	8784097	8784097	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr18:8784097G>T	ENST00000359865.3	+	6	1129	c.987G>T	c.(985-987)ggG>ggT	p.G329G	SOGA2_ENST00000400050.3_Silent_p.G329G|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.G329G|SOGA2_ENST00000306329.11_Silent_p.G689G	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	680								p.G329G(1)									CTGGTGCCGGGGGTGGGGCCC	0.642000													27	54					2.44723e-14	3.12301e-14	0.004656	1	0
GNAS	2778	broad.mit.edu	37	20	57415374	57415374	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr20:57415374C>T	ENST00000313949.7	+	1	602	c.213C>T	c.(211-213)tcC>tcT	p.S71S	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.S71S|GNAS_ENST00000371098.2_Silent_p.S71S|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	71					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.S71S(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACCACCGCTCCGGCGCCCAGG	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			29	77					0	0	0.002836	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544266	89544266	+	RNA	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:89544266G>A	ENST00000468494.1	-	0	387																											ACTGTGGGAGGCCAGTGTGTA	0.557000													17	86					0	0	0.012319	0	0
ZNF492	57615	broad.mit.edu	37	19	22846654	22846654	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:22846654T>A	ENST00000456783.2	+	4	427	c.183T>A	c.(181-183)aaT>aaA	p.N61K		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N61K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCAAAAAAAATTATTTCCAAA	0.318000													13	3					0	0	0.001855	0	0
ABI2	10152	broad.mit.edu	37	2	204259426	204259426	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:204259426G>A	ENST00000295851.4	+	6	878	c.582G>A	c.(580-582)cgG>cgA	p.R194R	ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Silent_p.R143R|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000424558.1_Silent_p.R188R|ABI2_ENST00000422511.2_Silent_p.R194R|ABI2_ENST00000261017.5_Silent_p.R188R|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000261018.7_Intron			Q9NYB9	ABI2_HUMAN	abl-interactor 2	194	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	p.R188R(2)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TTTGTAGGCGGCACTCCCCCT	0.473000													5	136					0	0	0.000602	0	0
TMEM176A	55365	broad.mit.edu	37	7	150498674	150498674	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:150498674G>T	ENST00000484928.1	+	2	617	c.36G>T	c.(34-36)gaG>gaT	p.E12D	TMEM176A_ENST00000004103.3_Missense_Mutation_p.E12D|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	12						integral to membrane		p.E12D(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCCCGGAGGCCCCACAGC	0.622000													26	49					1.77063e-15	2.30279e-15	0.005443	1	0
GPR141	353345	broad.mit.edu	37	7	37780619	37780619	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:37780619G>T	ENST00000447769.1	+	4	913	c.624G>T	c.(622-624)gtG>gtT	p.V208V	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.V208V|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V208V(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTTGATGGTGCAGAAGCTAC	0.413000													94	188					1.25439e-55	2.12487e-55	0.003610	1	0
EPS8L2	64787	broad.mit.edu	37	11	720164	720164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:720164C>T	ENST00000533256.1	+	6	643	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	EPS8L2_ENST00000318562.8_Nonsense_Mutation_p.Q90*|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Nonsense_Mutation_p.Q90*|EPS8L2_ENST00000530636.1_Nonsense_Mutation_p.Q90*			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	90	PID.					cytoplasm		p.Q90*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATCTGGACCCAGGAGATGCT	0.622000													26	14					0	0	0.008361	0	0
TEX13A	56157	broad.mit.edu	37	X	104463939	104463939	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:104463939C>A	ENST00000372578.3	-	3	1050	c.939G>T	c.(937-939)caG>caT	p.Q313H	TEX13A_ENST00000413579.1_Missense_Mutation_p.D313Y|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.Q313H|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTGGGTATGTCTGAGAAGGAG	0.537000													36	54					4.92203e-23	7.32151e-23	0.006230	1	0
HMGB4	127540	broad.mit.edu	37	1	34330145	34330145	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:34330145G>T	ENST00000522796.1	+	4	2258	c.353G>T	c.(352-354)tGg>tTg	p.W118L	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.W118L|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	118						nucleus	DNA binding	p.W118L(1)|p.W118S(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AACCCGAACTGGTCGGTGGTG	0.577000													35	77					3.38236e-24	5.11112e-24	0.006999	1	0
AAK1	22848	broad.mit.edu	37	2	69784102	69784102	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:69784102C>A	ENST00000409085.4	-	3	548	c.172G>T	c.(172-174)Gct>Tct	p.A58S	AAK1_ENST00000406297.3_Missense_Mutation_p.A58S|AAK1_ENST00000409068.1_Missense_Mutation_p.A58S	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	58	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.A58S(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AATACAATAGCAAATCCACCT	0.443000													10	40					3.86212e-05	4.28524e-05	0.008291	1	0
ZCCHC7	84186	broad.mit.edu	37	9	37126466	37126466	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr9:37126466A>T	ENST00000336755.5	+	2	243	c.137A>T	c.(136-138)gAt>gTt	p.D46V	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.D45V|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	46							nucleic acid binding|zinc ion binding	p.D46V(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CAAGATCTTGATGATGTCATC	0.393000													108	63					0	0	0.003610	0	0
PPARA	5465	broad.mit.edu	37	22	46611143	46611143	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr22:46611143C>T	ENST00000396000.2	+	4	547	c.282C>T	c.(280-282)ccC>ccT	p.P94P	PPARA_ENST00000402126.1_Silent_p.P94P|PPARA_ENST00000434345.2_Silent_p.P94P|PPARA_ENST00000407236.1_Silent_p.P94P|PPARA_ENST00000262735.5_Silent_p.P94P			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	94					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	p.P94P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	ACGAGTCTCCCAGTGGAGCAT	0.572000													49	12					0	0	0.003610	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221891	118221891	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:118221891G>T	ENST00000402510.2	-	11	3301	c.3302C>A	c.(3301-3303)tCt>tAt	p.S1101Y		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1101								p.S1101Y(1)|p.S925Y(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGGATGTGCAGAGAGTTGATA	0.478000													85	330					5.48297e-45	9.15752e-45	0.003610	1	0
COL4A1	1282	broad.mit.edu	37	13	110827079	110827079	+	Silent	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr13:110827079C>G	ENST00000375820.4	-	38	3337	c.3216G>C	c.(3214-3216)gcG>gcC	p.A1072A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1072	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.A715A(2)|p.A1072A(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGGAAACCCGCTATCCCTT	0.488000													97	175					0	0	0.003610	0	0
UHRF2	115426	broad.mit.edu	37	9	6506175	6506175	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr9:6506175G>A	ENST00000276893.5	+	16	2573	c.2405G>A	c.(2404-2406)cGa>cAa	p.R802Q	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	802					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.R802Q(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AGCAAAGGACGATGATCTGCC	0.463000													22	63					0	0	0.003954	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28116494	28116494	+	Silent	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:28116494A>G	ENST00000330236.6	+	2	493	c.309A>G	c.(307-309)ctA>ctG	p.L103L	ZKSCAN8_ENST00000457389.2_Silent_p.L103L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8									p.L103L(1)									TGACCATCCTACCTGAGGAGC	0.512000													61	52					0	0	0.003610	0	0
SATB2	23314	broad.mit.edu	37	2	200246416	200246416	+	Splice_Site	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:200246416C>A	ENST00000443023.1	-	3	1762		c.e3+1		SATB2_ENST00000484124.1_Splice_Site|SATB2_ENST00000260926.5_Splice_Site|SATB2_ENST00000457245.1_Splice_Site|SATB2_ENST00000417098.1_Splice_Site|SATB2_ENST00000428695.1_Intron			Q9UPW6	SATB2_HUMAN	SATB homeobox 2							cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAACACCCACCTTTGTAATT	0.453000													35	98					7.04047e-22	1.02485e-21	0.005524	1	0
ZFHX4	79776	broad.mit.edu	37	8	77620022	77620022	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:77620022G>T	ENST00000521891.2	+	3	3280	c.2832G>T	c.(2830-2832)caG>caT	p.Q944H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q918H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q918H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q918H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	918						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q944H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATATCTACCAGTGCAAGCTCT	0.478000										HNSCC(33;0.089)			23	30					1.55795e-14	1.99887e-14	0.012319	1	0
EIF3A	8661	broad.mit.edu	37	10	120801569	120801569	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:120801569C>T	ENST00000369144.3	-	19	3590	c.3463G>A	c.(3463-3465)Gat>Aat	p.D1155N	EIF3A_ENST00000541549.1_Missense_Mutation_p.D1121N|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1155	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.D1155N(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GGAAACCGATCATCATCAGCA	0.488000													46	73					0	0	0.003610	0	0
TRIM65	201292	broad.mit.edu	37	17	73887249	73887249	+	Missense_Mutation	SNP	G	G	A	rs150794170		TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:73887249G>A	ENST00000269383.3	-	6	1230	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	389	B30.2/SPRY.					intracellular	zinc ion binding	p.R389C(1)		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)			TCTGACGCGCGCACCTCCCAG	0.687000													27	66					0	0	0.009535	0	0
UNC79	57578	broad.mit.edu	37	14	94067067	94067067	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:94067067G>A	ENST00000553484.1	+	25	3679	c.3525G>A	c.(3523-3525)ttG>ttA	p.L1175L	UNC79_ENST00000393151.2_Silent_p.L1175L|UNC79_ENST00000555664.1_Silent_p.L1175L|UNC79_ENST00000256339.4_Silent_p.L998L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1175						integral to membrane		p.L998L(1)|p.L1175L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGCTTTCTTTGGAAGCCCAGC	0.398000													21	27					0	0	0.002780	0	0
PREPL	9581	broad.mit.edu	37	2	44565504	44565504	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:44565504C>A	ENST00000541738.1	-	7	1260	c.874G>T	c.(874-876)Gtt>Ttt	p.V292F	PREPL_ENST00000409957.1_Missense_Mutation_p.V292F|PREPL_ENST00000378520.3_Missense_Mutation_p.V381F|PREPL_ENST00000260648.6_Missense_Mutation_p.V381F|PREPL_ENST00000378511.3_Intron|PREPL_ENST00000410081.1_Missense_Mutation_p.V381F|PREPL_ENST00000409411.1_Missense_Mutation_p.V292F|PREPL_ENST00000409936.1_Missense_Mutation_p.V381F|PREPL_ENST00000409272.1_Missense_Mutation_p.V381F	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	381					proteolysis	cytosol	serine-type endopeptidase activity	p.V381F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAGACCGAACTGAATCATCA	0.333000													11	50					2.27111e-07	2.61755e-07	0.001368	1	0
AQP12A	375318	broad.mit.edu	37	2	241631418	241631418	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:241631418C>A	ENST00000429564.1	+	1	151	c.88C>A	c.(88-90)Cca>Aca	p.P30T	AQP12A_ENST00000337801.4_Missense_Mutation_p.P30T			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	30						integral to membrane	transporter activity	p.P30K(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCCCTGCTCCCAGTGGGCGC	0.692000													19	64					1.40151e-16	1.84797e-16	0.010504	1	0
BBS9	27241	broad.mit.edu	37	7	33185912	33185912	+	Silent	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:33185912T>C	ENST00000242067.6	+	2	569	c.48T>C	c.(46-48)gaT>gaC	p.D16D	BBS9_ENST00000396127.2_Silent_p.D16D|BBS9_ENST00000425508.2_5'UTR|BBS9_ENST00000350941.3_Silent_p.D16D|BBS9_ENST00000354265.4_Silent_p.D16D|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000355070.2_Silent_p.D16D	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	16					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.D16D(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTGGGAGATAAAGAAGAAT	0.338000									Bardet-Biedl syndrome				6	235					0	0	0.001168	0	0
STK32A	202374	broad.mit.edu	37	5	146750236	146750236	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:146750236C>T	ENST00000397936.3	+	9	1013	c.680C>T	c.(679-681)tCc>tTc	p.S227F	STK32A_ENST00000398523.3_Missense_Mutation_p.S227F	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	227	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.S227F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATATTCGCTCCAGTACTTCC	0.373000													58	54					0	0	0.003610	0	0
TMTC1	83857	broad.mit.edu	37	12	29920851	29920851	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:29920851G>A	ENST00000256062.5	-	2	609	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	TMTC1_ENST00000539277.1_Missense_Mutation_p.H154Y|TMTC1_ENST00000381224.2_Missense_Mutation_p.H46Y|TMTC1_ENST00000551659.1_Missense_Mutation_p.H154Y|TMTC1_ENST00000552618.1_Missense_Mutation_p.H154Y	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	154						integral to membrane	binding	p.H46Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGAATAGGATGTACAGCAAAA	0.378000													88	34					0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92086457	92086457	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:92086457C>T	ENST00000298047.6	+	1	1196	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V	FAT3_ENST00000541502.1_Silent_p.V393V|FAT3_ENST00000525166.1_Silent_p.V243V|FAT3_ENST00000409404.2_Silent_p.V393V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	393	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V393V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCCTGGTGTCGTGGTTGCTA	0.423000										TCGA Ovarian(4;0.039)			3	23					0	0	0.001168	0	0
SORCS3	22986	broad.mit.edu	37	10	106916929	106916929	+	Nonsense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:106916929A>T	ENST00000369701.3	+	10	1743	c.1516A>T	c.(1516-1518)Aag>Tag	p.K506*		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	506						integral to membrane	neuropeptide receptor activity	p.K506*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTGGCAAACAAGAAGGTGGA	0.512000													36	73					0	0	0.005524	0	0
CENPE	1062	broad.mit.edu	37	4	104070561	104070561	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:104070561T>A	ENST00000265148.3	-	27	3490	c.3401A>T	c.(3400-3402)cAg>cTg	p.Q1134L	CENPE_ENST00000380026.3_Missense_Mutation_p.Q1109L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1134					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.Q1134L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGGAGTTGCTGGCTCTTAAA	0.289000													8	32					0	0	0.004482	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063102	55063102	+	RNA	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:55063102T>A	ENST00000526016.1	-	0	535					NR_038174.2																						TTTTTCTTCATGGAGAAATGC	0.393000													10	22					0	0	0.001368	0	0
ZNF862	643641	broad.mit.edu	37	7	149559129	149559129	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:149559129A>T	ENST00000223210.4	+	7	3125	c.2880A>T	c.(2878-2880)gaA>gaT	p.E960D		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.E960D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GTGGGATTGAACTTGCCAGTT	0.547000													76	133					0	0	0.003610	0	0
GPC4	2239	broad.mit.edu	37	X	132458435	132458435	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:132458435T>C	ENST00000370828.3	-	3	973	c.449A>G	c.(448-450)tAc>tGc	p.Y150C	GPC4_ENST00000535467.1_Missense_Mutation_p.Y80C	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	150					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Y150C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TCCCACCACGTAGTAACGTTT	0.433000													125	548					0	0	0.003610	0	0
NTRK2	4915	broad.mit.edu	37	9	87635209	87635209	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr9:87635209G>C	ENST00000376214.1	+	20	3199	c.2261G>C	c.(2260-2262)aGc>aCc	p.S754T	NTRK2_ENST00000277120.3_Missense_Mutation_p.S754T|NTRK2_ENST00000323115.4_Missense_Mutation_p.S738T|NTRK2_ENST00000376213.1_Missense_Mutation_p.S738T	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	738	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	p.S754T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GACGTCTGGAGCCTGGGGGTC	0.557000										TSP Lung(25;0.17)			81	83					0	0	0.003610	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592100	22592100	+	RNA	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:22592100A>G	ENST00000390455.3	+	0	394																											CAGGGGCCACAGTATATCATT	0.458000													42	67					0	0	0.008740	0	0
CCNYL2	414194	broad.mit.edu	37	10	42965716	42965716	+	RNA	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:42965716G>A	ENST00000483242.3	-	0	436					NR_103829.1				cyclin Y-like 2											breast(2)|endometrium(1)|lung(3)|ovary(1)	7						ACTGCAACCAGCTAGAAATGA	0.373000													5	7					0	0	0.000602	0	0
SLC30A6	55676	broad.mit.edu	37	2	32417450	32417450	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:32417450G>A	ENST00000282587.5	+	6	367	c.330G>A	c.(328-330)ttG>ttA	p.L110L	SLC30A6_ENST00000435660.1_Silent_p.L110L|SLC30A6_ENST00000406369.1_Silent_p.L36L|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Silent_p.L81L|SLC30A6_ENST00000379343.2_Silent_p.L150L	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	110						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	p.L110L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCACAGTCTTGGCACAGTTGG	0.373000													20	96					0	0	0.003330	0	0
FAM110B	90362	broad.mit.edu	37	8	59059080	59059080	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:59059080G>T	ENST00000361488.3	+	5	1171	c.291G>T	c.(289-291)acG>acT	p.T97T	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	97						microtubule organizing center|mitochondrion|nucleus		p.T97T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCAGCCCCACGCTCAAAGTGT	0.647000													27	49					6.07407e-21	8.65646e-21	0.007291	1	0
SUMF2	25870	broad.mit.edu	37	7	56140737	56140737	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:56140737G>A	ENST00000434526.2	+	3	360	c.329G>A	c.(328-330)gGa>gAa	p.G110E	SUMF2_ENST00000413756.1_Missense_Mutation_p.G91E|SUMF2_ENST00000437307.2_Missense_Mutation_p.G91E|SUMF2_ENST00000395435.2_Missense_Mutation_p.G110E|SUMF2_ENST00000395436.2_Missense_Mutation_p.G110E|SUMF2_ENST00000342190.6_Missense_Mutation_p.G110E|SUMF2_ENST00000275607.9_Missense_Mutation_p.G3E	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	91						endoplasmic reticulum lumen	metal ion binding	p.G110E(1)|p.G91E(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGATGTTTGGATGGAGCTTT	0.483000													41	75					0	0	0.007835	0	0
RFC2	5982	broad.mit.edu	37	7	73668671	73668671	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:73668671C>A	ENST00000055077.3	-	1	103	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S	RFC2_ENST00000352131.3_Missense_Mutation_p.A15S	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	15					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.A15S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GAGTCCTGGGCCTCCACCTCG	0.711000													8	11					0.000274275	0.000300126	0.004482	1	0
GRIK2	2898	broad.mit.edu	37	6	102074443	102074443	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:102074443C>G	ENST00000369138.1	+	3	962	c.472C>G	c.(472-474)Cgt>Ggt	p.R158G	GRIK2_ENST00000413795.1_Missense_Mutation_p.R158G|GRIK2_ENST00000358361.3_Missense_Mutation_p.R158G|GRIK2_ENST00000421544.1_Missense_Mutation_p.R158G|GRIK2_ENST00000318991.6_Missense_Mutation_p.R158G|GRIK2_ENST00000369137.3_Missense_Mutation_p.R158G|GRIK2_ENST00000369134.4_Missense_Mutation_p.R109G	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	158					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R158G(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTCACTCAGCCGTGCCATTTT	0.468000													69	39					0	0	0.003610	0	0
CIB3	117286	broad.mit.edu	37	19	16275587	16275587	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:16275587C>T	ENST00000269878.4	-	5	533	c.484G>A	c.(484-486)Ggg>Agg	p.G162R	CIB3_ENST00000379859.3_Missense_Mutation_p.G113R|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	162	EF-hand 3.						calcium ion binding	p.G162R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GACAGCCGCCCATCATGGTCT	0.597000													34	22					0	0	0.005524	0	0
CDH8	1006	broad.mit.edu	37	16	61687553	61687553	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:61687553C>A	ENST00000577390.1	-	12	3313	c.2359G>T	c.(2359-2361)Ggc>Tgc	p.G787C	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	787					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G787C(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAGAGTTCGCCCAGTCTCTTA	0.473000													53	60					3.00063e-23	4.47742e-23	0.003610	1	0
CPS1	1373	broad.mit.edu	37	2	211541795	211541795	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:211541795C>G	ENST00000233072.5	+	37	4535	c.4339C>G	c.(4339-4341)Cat>Gat	p.H1447D	CPS1_ENST00000451903.2_Missense_Mutation_p.H996D|CPS1_ENST00000430249.2_Missense_Mutation_p.H1453D	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1447					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.H1447D(1)|p.H1453D(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TAAATTTGTCCATGATAATTA	0.378000													46	171					0	0	0.003610	0	0
LTBP2	4053	broad.mit.edu	37	14	75019619	75019619	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:75019619C>A	ENST00000261978.4	-	5	1554	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y	LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.D390Y	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	390					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.D390Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACTTGGGATCGTGCCCATGG	0.632000													13	12					4.7546e-09	5.64387e-09	0.004007	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55063104	55063104	+	RNA	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:55063104G>A	ENST00000526016.1	-	0	533					NR_038174.2																						TTTCTTCATGGAGAAATGCAG	0.398000													10	23					0	0	0.010729	0	0
GLA	2717	broad.mit.edu	37	X	100662855	100662855	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:100662855C>A	ENST00000218516.3	-	1	58	c.37G>T	c.(37-39)Gcg>Tcg	p.A13S	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	13			Missing (in FD; has 4% of wild-type activity).		glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	p.A13S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	AGCGCAAGCGCGCAGCCCAGA	0.572000													28	209					1.39806e-14	1.79858e-14	0.008361	1	0
SDK1	221935	broad.mit.edu	37	7	4167083	4167083	+	Silent	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:4167083A>G	ENST00000404826.2	+	26	4033	c.3894A>G	c.(3892-3894)acA>acG	p.T1298T	SDK1_ENST00000389531.3_Silent_p.T1298T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1298	Fibronectin type-III 7.				cell adhesion	integral to membrane		p.T1298T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGACATGGACATCCGTGCCGG	0.527000													62	173					0	0	0.003610	0	0
TOP2A	7153	broad.mit.edu	37	17	38552628	38552628	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:38552628T>G	ENST00000423485.1	-	28	3785	c.3627A>C	c.(3625-3627)gaA>gaC	p.E1209D		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1209					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.E1209D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AAGGCAAAACTTCAGCCATTT	0.423000													15	67					0	0	0.004990	0	0
PRDX4	10549	broad.mit.edu	37	X	23704431	23704431	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:23704431G>T	ENST00000379341.4	+	7	920	c.795G>T	c.(793-795)aaG>aaT	p.K265N		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	265					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAAAGCTGAAGTATTTCGATA	0.328000													5	28					8.12818e-05	8.97683e-05	0.001984	1	0
STK11	6794	broad.mit.edu	37	19	1221228	1221228	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:1221228G>C	ENST00000326873.7	+	6	1924	c.751G>C	c.(751-753)Ggt>Cgt	p.G251R		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	251	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.G251R(1)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCACCACGGGTCTGTACCC	0.587000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			15	6					0	0	0.003163	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918829	51918829	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:51918829G>T	ENST00000353836.5	-	6	1286	c.1065C>A	c.(1063-1065)aaC>aaA	p.N355K	SIGLEC10_ENST00000439889.2_Missense_Mutation_p.N297K|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.N297K|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.N207K|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.N272K|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.N355K|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.N355K|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.N265K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.N307K	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	355	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.N355K(1)|p.N297K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TACCTGTCCTGTTTGCTTGGG	0.612000													142	87					3.03811e-90	5.29722e-90	0.003610	1	0
ECT2L	345930	broad.mit.edu	37	6	139167810	139167810	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:139167810A>G	ENST00000423192.1	+	7	1060	c.899A>G	c.(898-900)tAt>tGt	p.Y300C	ECT2L_ENST00000541398.1_Missense_Mutation_p.Y231C|ECT2L_ENST00000367682.2_Missense_Mutation_p.Y300C			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	300					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.Y300C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATTCCTGCGTATGAGGTAGAG	0.388000			"""N, Splice, Mis"""		ETP ALL								225	166					0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61854977	61854977	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:61854977G>T	ENST00000577390.1	-	6	1830	c.876C>A	c.(874-876)ggC>ggA	p.G292G	CDH8_ENST00000299345.6_Silent_p.G292G|CDH8_ENST00000584337.1_Silent_p.G292G|CDH8_ENST00000577730.1_Silent_p.G292G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	292	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G292G(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTATTGCAGTGCCAAGAACCA	0.398000													16	67					0.000308642	0.000336958	0.003163	1	0
EGFLAM	133584	broad.mit.edu	37	5	38425153	38425153	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:38425153G>T	ENST00000322350.5	+	13	2115	c.1769G>T	c.(1768-1770)tGc>tTc	p.C590F	EGFLAM_ENST00000336740.6_Missense_Mutation_p.C356F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.C590F|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	590	EGF-like 2.					cell junction|proteinaceous extracellular matrix|synapse		p.C590F(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCCTACATTTGCCTCTGTCCC	0.478000													90	289					7.0627e-44	1.17547e-43	0.003610	1	0
NFKB2	4791	broad.mit.edu	37	10	104157747	104157747	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:104157747G>A	ENST00000369966.3	+	9	921	c.671G>A	c.(670-672)gGg>gAg	p.G224E	NFKB2_ENST00000428099.1_Missense_Mutation_p.G224E|NFKB2_ENST00000189444.6_Missense_Mutation_p.G224E	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	224	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.G224E(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GAATCTCCGGGGGCATCAAAC	0.473000			T	IGH@	B-NHL								35	217					0	0	0.004878	0	0
OR2M3	127062	broad.mit.edu	37	1	248367177	248367177	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:248367177C>A	ENST00000456743.1	+	1	846	c.808C>A	c.(808-810)Cag>Aag	p.Q270K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q270K(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCCCCAACACAGGACAAGAT	0.488000													81	149					1.04643e-32	1.6771e-32	0.003610	1	0
IFNA10	3446	broad.mit.edu	37	9	21206911	21206911	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr9:21206911G>A	ENST00000357374.2	-	1	231	c.186C>T	c.(184-186)ccC>ccT	p.P62P		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	62					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.P62P(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ACTCCTCCTGGGGGATTCGGA	0.517000													62	50					0	0	0.003610	0	0
AQP3	360	broad.mit.edu	37	9	33443783	33443783	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr9:33443783G>T	ENST00000297991.4	-	2	296	c.216C>A	c.(214-216)ctC>ctA	p.L72L	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	72					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	p.L72L(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGCCAGCGATGAGGATGCCCA	0.612000													18	28					8.04996e-18	1.08857e-17	0.012319	1	0
OR5L1	219437	broad.mit.edu	37	11	55579099	55579099	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:55579099T>A	ENST00000333973.2	+	1	246	c.157T>A	c.(157-159)Tct>Act	p.S53T		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S53T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCAGGTCAGCTCTCGGCTCCA	0.473000													64	250					0	0	0.003610	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181921	57181921	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:57181921G>A	ENST00000504228.1	+	6	2358	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	KIAA1211_ENST00000264229.6_Silent_p.L751L|KIAA1211_ENST00000541073.1_Silent_p.L744L			Q6ZU35	K1211_HUMAN	KIAA1211	751								p.L751L(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GACCCATGCTGGGACCCAGCG	0.587000													16	31					0	0	0.004990	0	0
AASDH	132949	broad.mit.edu	37	4	57215535	57215535	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:57215535C>A	ENST00000205214.6	-	11	2562	c.2382G>T	c.(2380-2382)atG>atT	p.M794I	AASDH_ENST00000513376.1_Missense_Mutation_p.M694I|AASDH_ENST00000502617.1_Missense_Mutation_p.M794I|AASDH_ENST00000602986.1_Missense_Mutation_p.M641I|AASDH_ENST00000434343.2_Missense_Mutation_p.M309I|AASDH_ENST00000451613.1_Missense_Mutation_p.M794I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	794					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	p.M794I(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CAACTGCCTTCATTCTATGAG	0.403000													7	132					0.000157383	0.000172614	0.003080	1	0
KIAA0947	23379	broad.mit.edu	37	5	5463749	5463749	+	Silent	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:5463749A>T	ENST00000296564.7	+	13	4524	c.4302A>T	c.(4300-4302)ccA>ccT	p.P1434P		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1434								p.P1434P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGTCTTGCCACATGTGGACC	0.458000													43	96					0	0	0.010771	0	0
CTPS2	56474	broad.mit.edu	37	X	16635339	16635339	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:16635339G>T	ENST00000443824.1	-	16	2223	c.1480C>A	c.(1480-1482)Cag>Aag	p.Q494K	CTPS2_ENST00000359276.4_Missense_Mutation_p.Q494K|CTPS2_ENST00000380241.3_Missense_Mutation_p.Q494K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	494	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	p.Q494K(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					AAGTCATTCTGCTCAAATTGT	0.408000													49	178					3.94638e-17	5.23252e-17	0.003610	1	0
COPS2	9318	broad.mit.edu	37	15	49431798	49431798	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:49431798C>A	ENST00000388901.5	-	4	372	c.299G>T	c.(298-300)cGg>cTg	p.R100L	COPS2_ENST00000542928.1_Missense_Mutation_p.R36L|COPS2_ENST00000299259.6_Missense_Mutation_p.R100L	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	100					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	p.R100L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GACTGCACTCCGAATATAGGT	0.313000													43	71					3.21987e-24	4.88108e-24	0.003610	1	0
TULP4	56995	broad.mit.edu	37	6	158914673	158914673	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:158914673G>T	ENST00000367097.3	+	10	3057	c.1700G>T	c.(1699-1701)cGg>cTg	p.R567L	TULP4_ENST00000367094.2_Missense_Mutation_p.R567L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	567					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R567L(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGGTCCCCACGGTTGCCCCTG	0.647000													49	29					2.47907e-22	3.64208e-22	0.003610	1	0
SNHG14	104472715	broad.mit.edu	37	15	25449568	25449568	+	RNA	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:25449568A>G	ENST00000424208.1	+	0	2339				SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA	NR_003305.1																						CATTCTCAAAAGGATTATGCT	0.498000													131	181					0	0	0.003610	0	0
HRH2	3274	broad.mit.edu	37	5	175111083	175111083	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:175111083C>A	ENST00000231683.2	+	1	2620	c.847C>A	c.(847-849)Ctg>Atg	p.L283M	HRH2_ENST00000377291.2_Missense_Mutation_p.L283M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	283					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.L283M(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CAACTCAGCCCTGAACCCCAT	0.562000													35	37					1.48734e-19	2.10706e-19	0.013114	1	0
GLI3	2737	broad.mit.edu	37	7	42004566	42004566	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:42004566C>A	ENST00000395925.3	-	15	4189	c.4105G>T	c.(4105-4107)Ggc>Tgc	p.G1369C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1369					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1369C(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGCCCATGCCGTGAGCCCCT	0.647000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				24	41					1.88708e-17	2.53029e-17	0.008361	1	0
ZNF582	147948	broad.mit.edu	37	19	56895924	56895924	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:56895924A>T	ENST00000301310.4	-	5	1020	c.862T>A	c.(862-864)Tgt>Agt	p.C288S	ZNF582_ENST00000586929.1_Missense_Mutation_p.C288S	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C288S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GCCTTGCCACATTCCTTACAC	0.413000													24	26					0	0	0.005443	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4451462	4451462	+	Missense_Mutation	SNP	G	G	A	rs139169505	byFrequency	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:4451462G>A	ENST00000254718.4	-	12	2006	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A567V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	567	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	p.A567V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCGCTGCTGCGCAGTGAAGGG	0.652000													25	18					0	0	0.004878	0	0
TENM1	10178	broad.mit.edu	37	X	123518550	123518550	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:123518550G>T	ENST00000422452.2	-	30	6294	c.6231C>A	c.(6229-6231)gtC>gtA	p.V2077V	TENM1_ENST00000371130.3_Silent_p.V2070V|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.V2072V(1)									TTCTGCCAGAGACATCAACAT	0.388000													48	220					1.86633e-21	2.68391e-21	0.003610	1	0
MEPE	56955	broad.mit.edu	37	4	88767146	88767146	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:88767146C>A	ENST00000497649.2	+	6	1432	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T	MEPE_ENST00000560249.1_Missense_Mutation_p.P263T|MEPE_ENST00000361056.3_Missense_Mutation_p.P376T|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.P263T|MEPE_ENST00000395102.4_Missense_Mutation_p.P407T|MEPE_ENST00000424957.3_Missense_Mutation_p.P376T			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	376					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.P376T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TCATTACCCTCCTGCACCCTC	0.438000													17	41					7.07596e-05	7.83292e-05	0.006122	1	0
MAP3K9	4293	broad.mit.edu	37	14	71197546	71197546	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:71197546C>A	ENST00000554752.2	-	12	2865	c.2866G>T	c.(2866-2868)Ggt>Tgt	p.G956C	MAP3K9_ENST00000553414.1_Missense_Mutation_p.G689C|MAP3K9_ENST00000554146.1_Missense_Mutation_p.G684C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.G970C|MAP3K9_ENST00000381250.4_Missense_Mutation_p.G933C			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	956	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.G970C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGGAATTCACCTGGGTCTCGG	0.542000													19	39					2.37509e-13	2.95954e-13	0.010504	1	0
ABCC5	10057	broad.mit.edu	37	3	183705647	183705647	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:183705647G>C	ENST00000334444.6	-	5	742	c.502C>G	c.(502-504)Cga>Gga	p.R168G	ABCC5_ENST00000382494.2_Missense_Mutation_p.R168G|ABCC5_ENST00000265586.6_Missense_Mutation_p.R168G|ABCC5_ENST00000427120.2_Missense_Mutation_p.R168G|ABCC5_ENST00000392579.2_Missense_Mutation_p.R168G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	168						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R168G(2)|p.R168*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACAACCCTTCGCAGGGAAGCA	0.552000													41	29					0	0	0.013114	0	0
DDB1	1642	broad.mit.edu	37	11	61096852	61096852	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:61096852T>C	ENST00000301764.7	-	4	929	c.532A>G	c.(532-534)Att>Gtt	p.I178V	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	178	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.I178V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACAAAGCAAATAGTAGGTGCT	0.453000								Nucleotide excision repair (NER)					36	116					0	0	0.006999	0	0
HR	55806	broad.mit.edu	37	8	21984809	21984809	+	Silent	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:21984809T>A	ENST00000381418.4	-	3	2626	c.1146A>T	c.(1144-1146)acA>acT	p.T382T	HR_ENST00000312841.8_Silent_p.T382T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	382							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.T382T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGTGAGCCATGTCTTCTTCA	0.657000													121	90					0	0	0.003610	0	0
LPPR4	9890	broad.mit.edu	37	1	99771933	99771933	+	Silent	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:99771933T>C	ENST00000370185.3	+	7	2156	c.1659T>C	c.(1657-1659)gcT>gcC	p.A553A	LPPR4_ENST00000457765.1_Silent_p.A495A|LPPR4_ENST00000370184.1_Silent_p.A395A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		553							phosphatidate phosphatase activity	p.A553A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCAGCTCTGCTCGGGCCAAGT	0.537000													33	102					0	0	0.003755	0	0
ADH4	127	broad.mit.edu	37	4	100063931	100063931	+	Splice_Site	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:100063931C>A	ENST00000508393.1	-	3	241	c.75_splice	c.e3-1	p.V26_splice	ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000423445.1_Splice_Site_p.V26_splice|ADH4_ENST00000265512.7_Splice_Site_p.V7_splice|ADH4_ENST00000505590.1_Splice_Site_p.V26_splice|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	7					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.V7F(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CATTTAATAACCTGAAAGAGA	0.443000													7	14					0.00198382	0.00213642	0.001984	1	0
KLC1	3831	broad.mit.edu	37	14	104123946	104123946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:104123946C>T	ENST00000389744.4	+	3	594	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	KLC1_ENST00000452929.2_Nonsense_Mutation_p.Q109*|KLC1_ENST00000554280.1_Nonsense_Mutation_p.Q109*|KLC1_ENST00000347839.6_Nonsense_Mutation_p.Q109*|KLC1_ENST00000555836.1_Nonsense_Mutation_p.Q109*|KLC1_ENST00000334553.6_Nonsense_Mutation_p.Q109*|KLC1_ENST00000557575.1_Nonsense_Mutation_p.Q109*|KLC1_ENST00000445352.4_Nonsense_Mutation_p.Q109*|KLC1_ENST00000557450.1_Nonsense_Mutation_p.Q109*|KLC1_ENST00000246489.7_Nonsense_Mutation_p.Q109*|KLC1_ENST00000553286.1_Nonsense_Mutation_p.Q109*|KLC1_ENST00000380038.3_Nonsense_Mutation_p.Q109*|RP11-73M18.2_ENST00000472726.2_Nonsense_Mutation_p.Q281*|KLC1_ENST00000348520.6_Nonsense_Mutation_p.Q109*			Q07866	KLC1_HUMAN	kinesin light chain 1	109					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.Q109*(2)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				ACTGCGTGCGCAGGTTCGTCG	0.537000													10	97					0	0	0.001368	0	0
C1orf226	400793	broad.mit.edu	37	1	162353080	162353080	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:162353080G>T	ENST00000458626.2	+	2	598	c.426G>T	c.(424-426)caG>caT	p.Q142H	C1orf226_ENST00000426197.2_Missense_Mutation_p.Q185H	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	142								p.Q185H(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TTTCATCACAGCCTGTCCTCA	0.597000													12	21					9.31168e-06	1.04784e-05	0.001855	1	0
SFMBT2	57713	broad.mit.edu	37	10	7214464	7214464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:7214464G>T	ENST00000361972.4	-	18	2234	c.2144C>A	c.(2143-2145)tCg>tAg	p.S715*	SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.S715*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	715					regulation of transcription, DNA-dependent	nucleus		p.S715*(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TACCTCCCCCGAGCCCGCGGT	0.637000													14	32					0.000151284	0.000166693	0.001855	1	0
HMGB3	3149	broad.mit.edu	37	X	150154608	150154608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:150154608G>T	ENST00000325307.7	+	3	331	c.235G>T	c.(235-237)Gga>Tga	p.G79*	HMGB3_ENST00000448905.2_Nonsense_Mutation_p.G79*	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	79					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.G79*(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGATTATGGACCAGCTAA	0.418000													30	39					5.60225e-13	6.92642e-13	0.009535	1	0
NUTM1	256646	broad.mit.edu	37	15	34648661	34648661	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:34648661G>A	ENST00000537011.1	+	8	2834	c.2452G>A	c.(2452-2454)Ggc>Agc	p.G818S	NUTM1_ENST00000333756.4_Missense_Mutation_p.G790S|NUTM1_ENST00000438749.3_Missense_Mutation_p.G808S					NUT midline carcinoma, family member 1									p.G790S(1)									TCCCTGTGGAGGCACAGTTGC	0.562000													32	79					0	0	0.010771	0	0
KRT1	3848	broad.mit.edu	37	12	53071243	53071243	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:53071243G>T	ENST00000252244.3	-	5	1043	c.985C>A	c.(985-987)Caa>Aaa	p.Q329K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	329	Linker 12.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.Q329K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCACTGATTTGAGTCTGCATC	0.428000													108	27					3.36245e-48	5.63566e-48	0.003610	1	0
ASPM	259266	broad.mit.edu	37	1	197112095	197112095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:197112095C>T	ENST00000367409.4	-	3	1543	c.1287G>A	c.(1285-1287)tgG>tgA	p.W429*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.W429*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	429					mitosis	cytoplasm|nucleus	calmodulin binding	p.W429*(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						CACTTTTTCTCCAATCTTCAG	0.343000													25	141					0	0	0.003954	0	0
CTNND2	1501	broad.mit.edu	37	5	11364947	11364947	+	Silent	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:11364947C>G	ENST00000304623.8	-	8	1422	c.1233G>C	c.(1231-1233)cgG>cgC	p.R411R	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.R411R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.R320R|CTNND2_ENST00000503622.1_Silent_p.R74R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	411					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.R411R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGCAGGGCCCGCAACTCTG	0.582000													26	60					0	0	0.009535	0	0
FTMT	94033	broad.mit.edu	37	5	121187857	121187857	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:121187857C>T	ENST00000321339.1	+	1	208	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	67					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R67W(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGCCCCTCTCGGGTGCGCCA	0.711000													17	14					0	0	0.004990	0	0
A2M	2	broad.mit.edu	37	12	9251203	9251203	+	Splice_Site	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:9251203C>T	ENST00000318602.7	-	15	2158	c.1851_splice	c.e15+1	p.S617_splice		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	617					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.S617S(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGAACTCACCGAGGACGCCG	0.547000													10	2					0	0	0.010729	0	0
AKAP9	10142	broad.mit.edu	37	7	91603226	91603226	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:91603226A>G	ENST00000359028.2	+	3	511	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	AKAP9_ENST00000358100.2_Missense_Mutation_p.M96V|AKAP9_ENST00000356239.3_Missense_Mutation_p.M84V|AKAP9_ENST00000394564.1_Missense_Mutation_p.M84V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	96					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.M84V(1)|p.M96V(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATCTACAATAATGAGAACTCT	0.358000			T	BRAF	papillary thyroid								26	66					0	0	0.004656	0	0
ANP32E	81611	broad.mit.edu	37	1	150201429	150201429	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:150201429C>A	ENST00000314136.8	-	4	838	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	ANP32E_ENST00000436748.2_Missense_Mutation_p.D116Y|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.D109Y|ANP32E_ENST00000533654.1_Intron|ANP32E_ENST00000369115.2_Missense_Mutation_p.D25Y|ANP32E_ENST00000369116.4_Missense_Mutation_p.D25Y	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	157	Asp/Glu-rich (highly acidic).|LRRCT.					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	p.D157Y(1)		breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTCAGAGTCCGGCGCTTCA	0.403000													47	91					1.38658e-30	2.17109e-30	0.003610	1	0
RAMP1	10267	broad.mit.edu	37	2	238820227	238820227	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:238820227C>T	ENST00000254661.4	+	3	381	c.249C>T	c.(247-249)ttC>ttT	p.F83F	RAMP1_ENST00000409726.1_Silent_p.F61F|RAMP1_ENST00000404910.2_Silent_p.F61F|RAMP1_ENST00000403885.1_Silent_p.F61F	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	83					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity	p.F83F(1)		kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	TGGGCTGCTTCTGGCCCAATG	0.667000													26	30					0	0	0.010818	0	0
BCKDHB	594	broad.mit.edu	37	6	80982857	80982857	+	Silent	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:80982857G>C	ENST00000320393.6	+	9	1004	c.957G>C	c.(955-957)gtG>gtC	p.V319V	BCKDHB_ENST00000356489.5_Silent_p.V319V|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	319					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	p.V319V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TTCAGTCTGTGATCAAAACAG	0.348000													30	20					0	0	0.010818	0	0
SHOX2	6474	broad.mit.edu	37	3	157818062	157818062	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:157818062T>G	ENST00000490689.2	-	3	1740	c.207A>C	c.(205-207)caA>caC	p.Q69H	SHOX2_ENST00000483851.2_Missense_Mutation_p.Q198H|SHOX2_ENST00000441443.2_Missense_Mutation_p.Q69H|SHOX2_ENST00000425436.3_Missense_Mutation_p.Q198H|SHOX2_ENST00000389589.4_Missense_Mutation_p.Q222H			O60902	SHOX2_HUMAN	short stature homeobox 2	198	Poly-Gly.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q69H(1)|p.Q222H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTGATTTTCTTGTTTTCTAC	0.294000													4	58					0	0	0.001984	0	0
BUB1B	701	broad.mit.edu	37	15	40462863	40462863	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:40462863T>A	ENST00000287598.6	+	4	560	c.365T>A	c.(364-366)cTc>cAc	p.L122H	BUB1B_ENST00000412359.3_Missense_Mutation_p.L136H|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	122	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.L122H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CCTCGATTTCTCAATCTCTGG	0.343000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				13	70					0	0	0.001368	0	0
LMBRD2	92255	broad.mit.edu	37	5	36105281	36105281	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:36105281C>A	ENST00000296603.4	-	17	2378	c.1916G>T	c.(1915-1917)aGg>aTg	p.R639M		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	639						integral to membrane		p.R639M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTATTAGCCCTGGTATATTT	0.408000													40	348					2.77807e-22	4.0688e-22	0.013114	1	0
BHLHB9	80823	broad.mit.edu	37	X	102003951	102003951	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:102003951G>T	ENST00000372735.1	+	4	613	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S	BHLHB9_ENST00000448867.1_Missense_Mutation_p.A10S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A10S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A10S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A10S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	10						cytoplasm|nucleus	binding	p.A10S(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAAGACAAGAGCCCAGGCCAA	0.498000													25	126					2.41591e-17	3.21222e-17	0.004656	1	0
THSD7A	221981	broad.mit.edu	37	7	11446939	11446939	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:11446939G>T	ENST00000423059.3	-	20	4161	c.3910C>A	c.(3910-3912)Ctc>Atc	p.L1304I	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1304	TSP type-1 13.					integral to membrane		p.L1304I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AAACCTGTGAGGCCACATGTT	0.408000										HNSCC(18;0.044)			14	18					7.93312e-07	9.03389e-07	0.002450	1	0
NRDE2	55051	broad.mit.edu	37	14	90782973	90782973	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:90782973T>A	ENST00000354366.3	-	3	588	c.356A>T	c.(355-357)gAc>gTc	p.D119V	NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing									p.D119V(1)									GGAAGGTTTGTCCTTTTCAGA	0.428000													69	210					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113303803	113303803	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:113303803A>T	ENST00000297405.5	-	56	9154	c.8910T>A	c.(8908-8910)ttT>ttA	p.F2970L	CSMD3_ENST00000343508.3_Missense_Mutation_p.F2930L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F2900L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2801L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2970	Sushi 20.					integral to membrane|plasma membrane		p.F2930*(1)|p.F2970*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAAGATCCAAATAAAAAAT	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	58					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179477787	179477787	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:179477787G>T	ENST00000589042.1	-	265	49885	c.49661C>A	c.(49660-49662)cCc>cAc	p.P16554H	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14913H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7489H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13986H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7681H|TTN_ENST00000359218.5_Missense_Mutation_p.P7614H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14913	Fibronectin type-III 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P13986H(2)|p.P7489H(1)|p.P7681H(1)|p.P7614H(1)		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)			TTTTCCAGGGGGCCATGGAGG	0.363000													12	48					7.93312e-07	9.03389e-07	0.002450	1	0
NPTX2	4885	broad.mit.edu	37	7	98257786	98257786	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:98257786C>G	ENST00000265634.3	+	5	1306	c.1141C>G	c.(1141-1143)Cgc>Ggc	p.R381G		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	381	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.R381G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATATGGGACCGCGTCCTTCG	0.557000													12	16					0	0	0.004007	0	0
THBS4	7060	broad.mit.edu	37	5	79355630	79355630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:79355630C>T	ENST00000350881.2	+	7	1079	c.889C>T	c.(889-891)Cga>Tga	p.R297*	THBS4_ENST00000511733.1_Nonsense_Mutation_p.R206*|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	297	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	p.R297*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCCATGTTTCCGAGGTGTCCA	0.597000													11	219					0	0	0.010729	0	0
DAB1	1600	broad.mit.edu	37	1	57537224	57537224	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:57537224C>A	ENST00000371236.2	-	6	792	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	DAB1_ENST00000420954.2_Missense_Mutation_p.D177Y|DAB1_ENST00000371231.1_Missense_Mutation_p.D177Y|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Missense_Mutation_p.D177Y|DAB1_ENST00000371230.1_Missense_Mutation_p.D177Y|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.D177Y			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	177	PID.				cell differentiation|nervous system development			p.D177Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CACTGCTTATCCTTTTGTGCC	0.393000													18	70					2.21704e-12	2.7269e-12	0.002780	1	0
SLC26A11	284129	broad.mit.edu	37	17	78219001	78219001	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:78219001C>A	ENST00000361193.3	+	11	1323	c.1043C>A	c.(1042-1044)aCc>aAc	p.T348N	SLC26A11_ENST00000546047.2_Missense_Mutation_p.T348N|SLC26A11_ENST00000572725.1_Missense_Mutation_p.T348N|SLC26A11_ENST00000411502.3_Missense_Mutation_p.T348N	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	348						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	p.T348N(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAGGTCTCACCAACATGTTG	0.607000													30	33					1.36615e-20	1.94115e-20	0.002836	1	0
CUX2	23316	broad.mit.edu	37	12	111744885	111744885	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:111744885G>T	ENST00000261726.6	+	11	1173	c.1019G>T	c.(1018-1020)cGg>cTg	p.R340L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	340						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R340L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GACCTGGAGCGGCAGCTCACG	0.662000													18	10					7.41877e-09	8.74093e-09	0.012319	1	0
RNF13	11342	broad.mit.edu	37	3	149678821	149678821	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:149678821A>G	ENST00000344229.3	+	11	1778	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	RNF13_ENST00000392894.3_Missense_Mutation_p.N359S|RNF13_ENST00000361785.6_Missense_Mutation_p.N240S	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	359					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	p.N359S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AATGAAATTAATGAACATGAT	0.393000													71	27					0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48612517	48612517	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:48612517G>C	ENST00000328333.8	-	75	6366	c.6259C>G	c.(6259-6261)Ccc>Gcc	p.P2087A	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2055A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2087	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P2087A(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGGTCCGGGGGGCCCAGGG	0.627000													43	24					0	0	0.003610	0	0
DSG4	147409	broad.mit.edu	37	18	28993427	28993427	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr18:28993427G>C	ENST00000359747.4	+	15	3078	c.3049G>C	c.(3049-3051)Ggg>Cgg	p.G1017R	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G998R|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	998					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.G1017R(2)|p.G998R(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATTTTAGTAGGGCCAGAAAT	0.502000													62	49					0	0	0.003610	0	0
ZNF300	91975	broad.mit.edu	37	5	150276176	150276176	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:150276176T>C	ENST00000446148.2	-	7	1100	c.673A>G	c.(673-675)Aga>Gga	p.R225G	ZNF300_ENST00000274599.5_Missense_Mutation_p.R209G|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.R209G|ZNF300_ENST00000418587.2_Missense_Mutation_p.R173G	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R209G(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTTTTTTCTTGAATTGCTC	0.328000													4	81					0	0	0.000602	0	0
MSLN	10232	broad.mit.edu	37	16	814687	814687	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:814687A>T	ENST00000566549.1	+	6	758	c.341A>T	c.(340-342)gAc>gTc	p.D114V	MSLN_ENST00000382862.3_Missense_Mutation_p.D114V|MSLN_ENST00000545450.2_Missense_Mutation_p.D114V|MSLN_ENST00000563941.1_Missense_Mutation_p.D114V			Q13421	MSLN_HUMAN	mesothelin	114					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		p.D114V(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCCCCGAGGACCTGGACGCC	0.682000													106	73					0	0	0.003610	0	0
SCN8A	6334	broad.mit.edu	37	12	52200403	52200403	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:52200403G>T	ENST00000354534.5	+	27	5311	c.5133G>T	c.(5131-5133)ctG>ctT	p.L1711L	SCN8A_ENST00000545061.1_Silent_p.L1670L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1711					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.L1711L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATGGCCTGCTGCTGCCCATCC	0.527000													115	20					5.09e-60	8.71526e-60	0.003610	1	0
NEIL3	55247	broad.mit.edu	37	4	178257373	178257373	+	Silent	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:178257373G>C	ENST00000264596.3	+	4	643	c.525G>C	c.(523-525)cgG>cgC	p.R175R		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	175					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	p.R175R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AGAAAGGCCGGATGCTAGGTG	0.398000								Base excision repair (BER), DNA glycosylases					25	79					0	0	0.007291	0	0
PRRX1	5396	broad.mit.edu	37	1	170699423	170699423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:170699423C>A	ENST00000367760.3	+	4	1690	c.605C>A	c.(604-606)tCg>tAg	p.S202*	PRRX1_ENST00000239461.6_Intron|PRRX1_ENST00000476867.2_Intron	NM_006902.3	NP_008833.1	P54821	PRRX1_HUMAN	paired related homeobox 1	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.S202*(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATAGATCCTCGTCCCTCCCA	0.483000													118	242					6.21504e-60	1.06034e-59	0.003610	1	0
ZNF804B	219578	broad.mit.edu	37	7	88966215	88966215	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:88966215A>G	ENST00000333190.4	+	4	4528	c.3919A>G	c.(3919-3921)Atc>Gtc	p.I1307V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1307						intracellular	zinc ion binding	p.I1307V(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACAACTTCTATCATCCACTT	0.428000										HNSCC(36;0.09)			118	234					0	0	0.003610	0	0
ZXDA	7789	broad.mit.edu	37	X	57934538	57934538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:57934538C>A	ENST00000358697.4	-	1	2529	c.2317G>T	c.(2317-2319)Gga>Tga	p.G773*		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	773					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G773*(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTGGGGAATCCAAACTGGGTT	0.448000													34	117					2.49991e-28	3.8635e-28	0.003271	1	0
RNF150	57484	broad.mit.edu	37	4	141889013	141889013	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:141889013C>T	ENST00000306799.3	-	2	1152	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	RNF150_ENST00000379512.2_Missense_Mutation_p.V26M|RNF150_ENST00000507500.1_Missense_Mutation_p.V167M|RNF150_ENST00000515673.1_Missense_Mutation_p.V167M|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000420921.2_Missense_Mutation_p.V26M	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	167	PA.					integral to membrane	zinc ion binding	p.V167M(1)|p.V76M(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ATTATGGCCACGATGTCTTCT	0.483000													40	72					0	0	0.008740	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914915	94914915	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:94914915G>A	ENST00000334708.3	-	2	261	c.197C>T	c.(196-198)gCa>gTa	p.A66V	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	66					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A248V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGCGTCTGCTGCCAGCTCTTT	0.572000													78	263					0	0	0.003610	0	0
BEND2	139105	broad.mit.edu	37	X	18230695	18230695	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:18230695T>C	ENST00000380033.4	-	4	614	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BEND2_ENST00000380030.3_Missense_Mutation_p.Y161C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	161								p.Y161C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTCTGGAGTATAGAATCTTCC	0.318000													71	40					0	0	0.003610	0	0
MN1	4330	broad.mit.edu	37	22	28196355	28196355	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr22:28196355C>A	ENST00000302326.4	-	1	1131	c.177G>T	c.(175-177)ccG>ccT	p.P59P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	59							binding	p.P59P(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCCCAAGATCGGGGGTTCGC	0.662000			T	ETV6	"""AML, meningioma"""								49	30					4.96213e-28	7.64393e-28	0.003610	1	0
GALNT7	51809	broad.mit.edu	37	4	174169580	174169580	+	Silent	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:174169580A>G	ENST00000265000.4	+	2	659	c.576A>G	c.(574-576)ttA>ttG	p.L192L	GALNT7_ENST00000512285.1_Silent_p.L192L	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	192					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L192L(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TCAATGACTTACGCCAAGAAG	0.388000													26	63					0	0	0.005443	0	0
RND3	390	broad.mit.edu	37	2	151326622	151326622	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:151326622A>C	ENST00000375734.2	-	5	863	c.614T>G	c.(613-615)gTt>gGt	p.V205G	RND3_ENST00000263895.4_Missense_Mutation_p.V205G|RND3_ENST00000409557.1_Missense_Mutation_p.V76G	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	205					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	p.V205G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GTTCCGCTTAACGTTTTTATT	0.443000													80	78					0	0	0.003610	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260213	44260213	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr18:44260213G>T	ENST00000315087.7	-	7	1583	c.923C>A	c.(922-924)gCg>gAg	p.A308E	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A277E|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A344E	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	308					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		p.A308E(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CTCCAGCGCCGCAGTGACCAG	0.607000													33	45					9.04072e-19	1.2583e-18	0.003271	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930431	68930431	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:68930431G>T	ENST00000356291.2	-	8	1046	c.987C>A	c.(985-987)gtC>gtA	p.V329V	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	329	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.V329V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAAATCCTGTGACGAACACAC	0.393000													26	61					5.77227e-19	8.05748e-19	0.008361	1	0
DHRS2	10202	broad.mit.edu	37	14	24113619	24113619	+	Splice_Site	SNP	C	C	T	rs143433482	by1000genomes	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:24113619C>T	ENST00000250383.6	+	7	1018	c.540_splice	c.e7-1	p.A181_splice	DHRS2_ENST00000344777.7_Splice_Site_p.A181_splice	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	159					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	p.A181V(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCTTCCCAGGCGCTGGGTGTC	0.552000													6	168					0	0	0.004482	0	0
MORF4L1	10933	broad.mit.edu	37	15	79177320	79177320	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:79177320G>T	ENST00000331268.5	+	4	371	c.167G>T	c.(166-168)aGg>aTg	p.R56M	MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000379535.4_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	56	Interaction with MYST1.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	p.R56M(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGTGCTGTGAGGCCCAGGCGC	0.458000													31	56					1.39806e-14	1.79858e-14	0.008361	1	0
STAG3	10734	broad.mit.edu	37	7	99802368	99802368	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:99802368A>G	ENST00000426455.1	+	27	3328	c.2921A>G	c.(2920-2922)cAg>cGg	p.Q974R	GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.Q916R|STAG3_ENST00000317296.5_Missense_Mutation_p.Q974R|GATS_ENST00000543273.1_RNA			Q9UJ98	STAG3_HUMAN	stromal antigen 3	974					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.Q974R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCAGCTGCAGAACCGTGAC	0.592000													17	31					0	0	0.004007	0	0
KDM4D	55693	broad.mit.edu	37	11	94731653	94731653	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:94731653G>T	ENST00000335080.5	+	3	1949	c.1117G>T	c.(1117-1119)Ggc>Tgc	p.G373C	KDM4D_ENST00000536741.1_Missense_Mutation_p.G373C	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	373					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G373C(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGCAGCGCTGGGCCTGAGACA	0.637000													16	20					2.48551e-13	3.08099e-13	0.004990	1	0
RXRG	6258	broad.mit.edu	37	1	165398198	165398198	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:165398198G>T	ENST00000359842.5	-	2	357	c.55C>A	c.(55-57)Cct>Act	p.P19T		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	19	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.P19T(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTGTGGCCAGGGGAGCCTGTA	0.572000													6	23					2.27111e-07	2.61755e-07	0.001368	1	0
RYR2	6262	broad.mit.edu	37	1	237664018	237664018	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:237664018T>G	ENST00000366574.2	+	21	2528	c.2211T>G	c.(2209-2211)atT>atG	p.I737M	RYR2_ENST00000360064.6_Missense_Mutation_p.I735M|RYR2_ENST00000542537.1_Missense_Mutation_p.I721M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	737	B30.2/SPRY 1.				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	p.I735M(1)		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)			TAGGTTGTATTGCTCGTACTG	0.393000													77	251					0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57768208	57768208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr20:57768208G>T	ENST00000371030.2	+	1	2134	c.2134G>T	c.(2134-2136)Gag>Tag	p.E712*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	712						intracellular	nucleic acid binding|zinc ion binding	p.E712*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TAAGCATGGGGAGACGGTGGC	0.617000													8	5					0.00448238	0.00479464	0.004482	1	0
CSMD3	114788	broad.mit.edu	37	8	113317142	113317142	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:113317142C>T	ENST00000297405.5	-	52	8318	c.8074G>A	c.(8074-8076)Gtt>Att	p.V2692I	CSMD3_ENST00000343508.3_Missense_Mutation_p.V2652I|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2622I|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2692	Sushi 16.					integral to membrane|plasma membrane		p.V2692F(1)|p.V2652I(1)|p.V2652F(1)|p.V2692I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGACATGTAACAACTATACAA	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	16					0	0	0.008871	0	0
SNTG1	54212	broad.mit.edu	37	8	51363265	51363265	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:51363265G>T	ENST00000522124.1	+	8	1000	c.339G>T	c.(337-339)gtG>gtT	p.V113V	SNTG1_ENST00000518864.1_Silent_p.V113V|SNTG1_ENST00000276467.5_Silent_p.V113V|SNTG1_ENST00000517473.1_Silent_p.V113V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	113	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.V113V(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCATTAATGTGAGAAAATGTA	0.323000													17	48					3.52763e-06	3.97903e-06	0.004990	1	0
VWCE	220001	broad.mit.edu	37	11	61042021	61042021	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:61042021C>A	ENST00000335613.5	-	12	1917	c.1531G>T	c.(1531-1533)Ggg>Tgg	p.G511W		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	511	VWFC 3.					extracellular region	calcium ion binding	p.G511W(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACACAGCCCCGTCTGCGTAC	0.572000													13	95					0.00074312	0.000807592	0.006122	1	0
ATP7A	538	broad.mit.edu	37	X	77284869	77284869	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:77284869G>T	ENST00000341514.6	+	15	3194	c.3039G>T	c.(3037-3039)atG>atT	p.M1013I	ATP7A_ENST00000343533.5_Missense_Mutation_p.M935I|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1013					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.M1013I(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTGCTGTGATGGTGGGTACAG	0.463000													55	158					9.74713e-16	1.27462e-15	0.003610	1	0
COL12A1	1303	broad.mit.edu	37	6	75827262	75827262	+	Splice_Site	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:75827262C>T	ENST00000322507.8	-	47	7664	c.7354_splice	c.e47-1	p.G2452_splice	COL12A1_ENST00000483888.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000345356.6_Splice_Site_p.G1288_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2452	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2452E(1)		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						GACACTGAACCCTGCAAAGTA	0.398000													33	26					0	0	0.010771	0	0
ZNF264	9422	broad.mit.edu	37	19	57723654	57723654	+	Nonsense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:57723654A>T	ENST00000263095.6	+	4	1603	c.1189A>T	c.(1189-1191)Aag>Tag	p.K397*	ZNF264_ENST00000536056.1_Nonsense_Mutation_p.K397*	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K397*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		CACTGGAGAGAAGCCCTTTGA	0.552000													30	29					0	0	0.012213	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063497	48063497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:48063497G>T	ENST00000316364.5	+	19	3176	c.2737G>T	c.(2737-2739)Gga>Tga	p.G913*	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.G838*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.G851*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.G857*|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.G851*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.G894*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.G870*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.G851*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.G913*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	913					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.M912_G913>I*(1)|p.M850_G851>I*(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGATCCCATGGGATCGATGTC	0.512000													62	148					4.45325e-31	7.01904e-31	0.003610	1	0
NHLRC2	374354	broad.mit.edu	37	10	115636690	115636690	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:115636690A>G	ENST00000369301.3	+	3	954	c.742A>G	c.(742-744)Att>Gtt	p.I248V		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	248					cell redox homeostasis			p.I248V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ACATCATAGAATTTTGGTCGT	0.348000													32	73					0	0	0.003755	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336630	42336630	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:42336630C>A	ENST00000262418.6	-	9	932	c.777G>T	c.(775-777)ccG>ccT	p.P259P	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	259					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.P259P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTATAGGCACCGGCAGCTCCA	0.652000													13	30					4.36969e-10	5.27912e-10	0.001855	1	0
OR5K1	26339	broad.mit.edu	37	3	98188519	98188519	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:98188519C>A	ENST00000332650.5	+	1	196	c.99C>A	c.(97-99)gcC>gcA	p.A33A		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A33A(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTTCTTTGCCATCTATCTGA	0.433000													158	77					5.82429e-73	1.00813e-72	0.003610	1	0
DEAF1	10522	broad.mit.edu	37	11	678763	678763	+	Missense_Mutation	SNP	C	C	A	rs138447102	byFrequency	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:678763C>A	ENST00000382409.3	-	9	1670	c.1186G>T	c.(1186-1188)Ggc>Tgc	p.G396C	DEAF1_ENST00000338675.6_Missense_Mutation_p.G307C|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	396	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	p.G396C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TCCTGATAGCCGGGGTAGTGA	0.567000													61	38					5.10652e-33	8.23968e-33	0.003610	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092809	151092809	+	Missense_Mutation	SNP	G	G	A	rs143158098		TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:151092809G>A	ENST00000370335.1	+	3	940	c.673G>A	c.(673-675)Gag>Aag	p.E225K	MAGEA4_ENST00000370340.3_Missense_Mutation_p.E225K|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E225K|MAGEA4_ENST00000360243.2_Missense_Mutation_p.E225K|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E225K|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E225K|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E225K			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	225	MAGE.						protein binding	p.E225K(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTGGGAGGAGCTGGGTGT	0.542000													58	202					0	0	0.003610	0	0
PAX4	5078	broad.mit.edu	37	7	127252046	127252046	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:127252046G>T	ENST00000341640.2	-	7	905	c.700C>A	c.(700-702)Cag>Aag	p.Q234K	PAX4_ENST00000338516.3_Intron|PAX4_ENST00000463946.1_Missense_Mutation_p.Q232K|PAX4_ENST00000378740.2_Missense_Mutation_p.Q234K	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	242					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q234K(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTCAGCCCCTGGGAAGCACCT	0.552000													12	21					0.00185496	0.00200673	0.001855	1	0
MYH6	4624	broad.mit.edu	37	14	23863354	23863354	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:23863354C>A	ENST00000405093.3	-	21	2678	c.2608G>T	c.(2608-2610)Gct>Tct	p.A870S	MYH6_ENST00000356287.3_Missense_Mutation_p.A870S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	870					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A870S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGCGGCGAGCCTCGGACTTC	0.577000													45	85					2.81731e-22	4.11361e-22	0.003610	1	0
MYO5B	4645	broad.mit.edu	37	18	47527658	47527658	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr18:47527658T>G	ENST00000285039.7	-	5	878	c.579A>C	c.(577-579)gaA>gaC	p.E193D		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	193	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E193D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCACCTTCTCTTCGATGTTGG	0.582000													24	40					0	0	0.005443	0	0
STARD8	9754	broad.mit.edu	37	X	67938390	67938390	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:67938390G>A	ENST00000252336.6	+	5	1766	c.1394G>A	c.(1393-1395)gGg>gAg	p.G465E	STARD8_ENST00000374597.3_Missense_Mutation_p.G465E|STARD8_ENST00000374599.3_Missense_Mutation_p.G545E	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	465					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.G465E(2)|p.G545E(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAGGCTGCGGGGCCCCTGGCT	0.587000													9	28					0	0	0.001368	0	0
TAAR5	9038	broad.mit.edu	37	6	132910781	132910781	+	Silent	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:132910781T>A	ENST00000258034.2	-	1	96	c.45A>T	c.(43-45)gcA>gcT	p.A15A		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	15					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.A15A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGTAGCAGAATGCCGCAGGGT	0.532000													75	32					0	0	0.003610	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874861	117874861	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:117874861G>T	ENST00000357099.4	+	4	634	c.461G>T	c.(460-462)tGt>tTt	p.C154F	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000265224.4_Missense_Mutation_p.C134F|ANKRD7_ENST00000433239.1_Missense_Mutation_p.C81F|ANKRD7_ENST00000417525.1_Missense_Mutation_p.C81F			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	134					male gonad development			p.C154F(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TATGCTGTTTGTGGTCAAAGT	0.343000													51	97					9.87224e-16	1.28745e-15	0.003610	1	0
YIPF1	54432	broad.mit.edu	37	1	54331952	54331952	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:54331952C>T	ENST00000072644.1	-	9	1088	c.752G>A	c.(751-753)cGt>cAt	p.R251H	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.R276H|YIPF1_ENST00000371399.1_Missense_Mutation_p.R68H	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	251						integral to membrane|transport vesicle		p.R251H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTATCCTCACGAACAGCTGG	0.483000													16	41					0	0	0.006122	0	0
CALCR	799	broad.mit.edu	37	7	93108688	93108688	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:93108688C>A	ENST00000359558.2	-	5	536	c.237G>T	c.(235-237)caG>caT	p.Q79H	CALCR_ENST00000421592.1_Missense_Mutation_p.Q61H|CALCR_ENST00000394441.1_Missense_Mutation_p.Q61H|CALCR_ENST00000360249.4_Missense_Mutation_p.Q61H|CALCR_ENST00000426151.1_Missense_Mutation_p.Q61H	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	61					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.Q61H(1)|p.Q79H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATGCGGGTAACTGCTGCATTC	0.383000													131	275					1.23427e-62	2.12098e-62	0.003610	1	0
RHOJ	57381	broad.mit.edu	37	14	63747808	63747808	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:63747808C>A	ENST00000316754.3	+	3	819	c.357C>A	c.(355-357)ctC>ctA	p.L119L	RHOJ_ENST00000555125.1_Silent_p.L119L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	119					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.L119L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TCCCCGAGCTCAAGGACTGCA	0.547000													20	76					3.8784e-16	5.08573e-16	0.012319	1	0
CAMKK1	84254	broad.mit.edu	37	17	3785657	3785657	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:3785657C>T	ENST00000381771.2	-	8	840	c.693G>A	c.(691-693)caG>caA	p.Q231Q	CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000158166.5_Silent_p.Q231Q|CAMKK1_ENST00000348335.2_Intron			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	228	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.Q231Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GGGCCTGGTTCTGCAGGGCTG	0.547000													9	87					0	0	0.004482	0	0
BRWD3	254065	broad.mit.edu	37	X	79975054	79975054	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:79975054G>T	ENST00000373275.4	-	18	2194	c.1978C>A	c.(1978-1980)Ctg>Atg	p.L660M	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	660								p.L660M(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTAGTCTCAGGTCTTGTTCT	0.388000													21	59					2.4624e-09	2.94498e-09	0.008871	1	0
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2																						AGGGCACATGCCTGACCAGAC	0.572000													4	26					0	0	0.001984	0	0
EIF4G3	8672	broad.mit.edu	37	1	21205816	21205816	+	Splice_Site	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:21205816C>A	ENST00000602326.1	-	18	3055	c.2472_splice	c.e18+1	p.T824_splice	EIF4G3_ENST00000537738.1_Splice_Site_p.T308_splice|EIF4G3_ENST00000536266.1_Splice_Site_p.T422_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.T818_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.T538_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.T824_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.T818_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	818	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.T824T(1)|p.T818T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTCTTCTTACCGTTACTAGAC	0.443000													44	94					6.1207e-33	9.84274e-33	0.013114	1	0
CILP	8483	broad.mit.edu	37	15	65499138	65499138	+	Missense_Mutation	SNP	G	G	A	rs142891097	byFrequency	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:65499138G>A	ENST00000261883.4	-	4	572	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	136					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.R136C(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAGAGGAAGCGTACGGTGTAA	0.637000													41	190					0	0	0.011902	0	0
CDYL	9425	broad.mit.edu	37	6	4892131	4892131	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:4892131G>A	ENST00000328908.5	+	4	502	c.371G>A	c.(370-372)aGa>aAa	p.R124K	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.R70K			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	124					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.R124K(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		ACATTGACCAGAACAAACAGG	0.498000													62	128					0	0	0.003610	0	0
KCNH6	81033	broad.mit.edu	37	17	61613303	61613303	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:61613303G>T	ENST00000583023.1	+	6	1386	c.1375G>T	c.(1375-1377)Gtg>Ttg	p.V459L	KCNH6_ENST00000580652.1_Missense_Mutation_p.V459L|KCNH6_ENST00000314672.5_Missense_Mutation_p.V459L|KCNH6_ENST00000456941.2_Intron|KCNH6_ENST00000581784.1_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	459					regulation of transcription, DNA-dependent|signal transduction			p.V459L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGGCCCCTCGGTGCAGGACAA	0.617000													18	23					4.96729e-08	5.7669e-08	0.008871	1	0
TAAR1	134864	broad.mit.edu	37	6	132966892	132966892	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:132966892G>C	ENST00000275216.1	-	1	250	c.251C>G	c.(250-252)tCt>tGt	p.S84C		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	84						plasma membrane		p.S84C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GTGCTCAGCAGATCTCACCAT	0.438000													40	48					0	0	0.007835	0	0
DIS3L2	129563	broad.mit.edu	37	2	233199125	233199125	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:233199125G>T	ENST00000325385.7	+	18	2481	c.2205G>T	c.(2203-2205)caG>caT	p.Q735H	DIS3L2_ENST00000409307.1_Missense_Mutation_p.Q735H|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	735							exonuclease activity|ribonuclease activity|RNA binding	p.Q735H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGCAGAAACAGGCGGACCACT	0.617000													14	15					1.33834e-09	1.60871e-09	0.007413	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589131	140589131	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:140589131G>C	ENST00000239450.2	+	1	841	c.652G>C	c.(652-654)Ggg>Cgg	p.G218R	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		218	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G218R(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGATGGCGGGTCCCCTCC	0.507000													52	29					0	0	0.003610	0	0
USP35	57558	broad.mit.edu	37	11	77921420	77921420	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:77921420G>T	ENST00000529308.1	+	10	2780	c.2519G>T	c.(2518-2520)gGc>gTc	p.G840V	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.G408V|USP35_ENST00000526425.1_Missense_Mutation_p.G571V|USP35_ENST00000441408.2_Missense_Mutation_p.G426V	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	840					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.G596V(1)|p.G840V(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTGGCTGGTGGCCGTGGCCAG	0.642000													14	55					3.73148e-12	4.57779e-12	0.007291	1	0
POF1B	79983	broad.mit.edu	37	X	84562228	84562228	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:84562228G>T	ENST00000262753.4	-	11	1250	c.1105C>A	c.(1105-1107)Caa>Aaa	p.Q369K	POF1B_ENST00000373145.3_Missense_Mutation_p.Q369K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	369							actin binding	p.Q369K(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCTTTTAATTGAGTGTCTTTG	0.328000													8	35					0.000157383	0.000172614	0.003080	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063496	48063496	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:48063496G>T	ENST00000316364.5	+	19	3175	c.2736G>T	c.(2734-2736)atG>atT	p.M912I	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.M837I|SEMA6D_ENST00000558014.1_Missense_Mutation_p.M850I|SEMA6D_ENST00000354744.4_Missense_Mutation_p.M856I|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.M850I|SEMA6D_ENST00000389433.2_Missense_Mutation_p.M893I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.M869I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.M850I|SEMA6D_ENST00000536845.2_Missense_Mutation_p.M912I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	912					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.M912_G913>I*(1)|p.M850_G851>I*(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGGATCCCATGGGATCGATGT	0.512000													61	147					2.93687e-30	4.58345e-30	0.003610	1	0
GALNT14	79623	broad.mit.edu	37	2	31181310	31181310	+	Missense_Mutation	SNP	G	G	T	rs142569800	byFrequency	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:31181310G>T	ENST00000349752.5	-	4	1058	c.419C>A	c.(418-420)aCg>aAg	p.T140K	GALNT14_ENST00000420311.2_Missense_Mutation_p.T105K|GALNT14_ENST00000406653.1_Missense_Mutation_p.T120K|GALNT14_ENST00000356174.3_Missense_Mutation_p.T107K|GALNT14_ENST00000324589.5_Missense_Mutation_p.T145K	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	140	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T140K(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GATCAGATGCGTAGGGGTGCG	0.413000													15	90					2.5808e-16	3.39353e-16	0.006122	1	0
THEMIS	387357	broad.mit.edu	37	6	128134688	128134688	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:128134688G>C	ENST00000368250.1	-	5	1359	c.861C>G	c.(859-861)caC>caG	p.H287Q	THEMIS_ENST00000543064.1_Missense_Mutation_p.H366Q|THEMIS_ENST00000537166.1_Missense_Mutation_p.H331Q|THEMIS_ENST00000368248.2_Missense_Mutation_p.H366Q			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	366	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.H366Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGGCCACCACGTGAAGAGGCT	0.527000													87	43					0	0	0.003610	0	0
MGA	23269	broad.mit.edu	37	15	42058761	42058761	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:42058761C>T	ENST00000219905.7	+	24	8662	c.8481C>T	c.(8479-8481)ctC>ctT	p.L2827L	MGA_ENST00000545763.1_Silent_p.L2618L|MGA_ENST00000570161.1_Silent_p.L2827L|MGA_ENST00000389936.4_Silent_p.L2788L|MGA_ENST00000566586.1_Silent_p.L2618L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2788						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.L2876L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTTCACTGCTCAATGAAATTG	0.448000													22	155					0	0	0.010504	0	0
ABCC4	10257	broad.mit.edu	37	13	95899972	95899972	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr13:95899972C>T	ENST00000376887.4	-	2	224	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R37Q|ABCC4_ENST00000431522.1_Missense_Mutation_p.R37Q|ABCC4_ENST00000536256.1_Missense_Mutation_p.R37Q	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	37					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.R37Q(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTCTAATCTCCGTTTATGGCC	0.448000													43	55					0	0	0.011902	0	0
DEGS2	123099	broad.mit.edu	37	14	100615316	100615316	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:100615316T>C	ENST00000305631.5	-	2	1389	c.814A>G	c.(814-816)Aac>Gac	p.N272D	DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	272					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	p.N272D(1)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				AGCGGCAGGTTGTAGCCCGGG	0.662000													8	69					0	0	0.004007	0	0
KCNA5	3741	broad.mit.edu	37	12	5155014	5155014	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:5155014G>T	ENST00000252321.3	+	1	1930	c.1701G>T	c.(1699-1701)ggG>ggT	p.G567G		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	567						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G567G(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCAAGGCTGGGGGGACCCTGG	0.627000													50	21					2.40265e-35	3.91665e-35	0.003610	1	0
MLF2	8079	broad.mit.edu	37	12	6859920	6859920	+	Missense_Mutation	SNP	T	T	C	rs61731916	byFrequency	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:6859920T>C	ENST00000203630.5	-	5	873	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	MLF2_ENST00000435120.1_Missense_Mutation_p.M77V|MLF2_ENST00000539187.1_Missense_Mutation_p.M77V|MLF2_ENST00000564181.1_5'UTR|MLF2_ENST00000542154.1_Missense_Mutation_p.M77V			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	77					defense response	cytoplasm|nucleus	protein binding	p.M77V(1)		kidney(2)|large_intestine(3)|lung(4)	9						AACATGTCCATGAAACCACCC	0.488000													66	10					0	0	0.003610	0	0
MINK1	50488	broad.mit.edu	37	17	4796591	4796591	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:4796591G>A	ENST00000347992.7	+	20	2484	c.2300G>A	c.(2299-2301)cGa>cAa	p.R767Q	MINK1_ENST00000453408.3_Intron|MINK1_ENST00000355280.6_Intron	NM_170663.4	NP_733763.1	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	800					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R767Q(1)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGCTATAAGCGAGCAATTGGT	0.587000													7	33					0	0	0.001368	0	0
CHD6	84181	broad.mit.edu	37	20	40116401	40116401	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr20:40116401C>A	ENST00000373233.3	-	14	2082	c.1905G>T	c.(1903-1905)gaG>gaT	p.E635D	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	635	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.E635_E636>D*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGAAGAGCTCCTCCACAGAGT	0.438000													53	83					7.47603e-22	1.08494e-21	0.003610	1	0
PKHD1	5314	broad.mit.edu	37	6	51613441	51613441	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:51613441C>T	ENST00000371117.3	-	58	9248	c.8973G>A	c.(8971-8973)gtG>gtA	p.V2991V	PKHD1_ENST00000340994.4_Silent_p.V2991V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2991					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V2991V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTGAATTTCCACATTAAGAA	0.428000													26	209					0	0	0.006320	0	0
RXFP1	59350	broad.mit.edu	37	4	159572982	159572982	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:159572982G>T	ENST00000307765.5	+	18	2300	c.2049G>T	c.(2047-2049)ctG>ctT	p.L683L	RXFP1_ENST00000343542.5_Silent_p.L635L|RXFP1_ENST00000460056.2_Silent_p.L602L|RXFP1_ENST00000448688.2_Silent_p.L578L|RXFP1_ENST00000470033.1_Silent_p.L650L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	683						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.L683L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTATACTCTGACCACAAGAC	0.338000													27	79					1.5548e-18	2.14517e-18	0.005443	1	0
EXOC6	54536	broad.mit.edu	37	10	94594583	94594583	+	Splice_Site	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:94594583T>C	ENST00000371552.4	+	1	115		c.e1+2		EXOC6_ENST00000371547.4_Splice_Site	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6						protein transport|vesicle docking involved in exocytosis	exocyst		p.?(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TACTTTAAGGTAGGGCACCGT	0.403000													40	56					0	0	0.008740	0	0
HCFC1	3054	broad.mit.edu	37	X	153217516	153217516	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:153217516G>T	ENST00000310441.7	-	20	6002	c.5036C>A	c.(5035-5037)gCc>gAc	p.A1679D	HCFC1_ENST00000354233.3_Missense_Mutation_p.A1610D|HCFC1_ENST00000369984.4_Missense_Mutation_p.A1724D	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1679					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A1582D(1)|p.A1679D(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TATGGTGGTGGCCTGGCCCTC	0.687000													6	14					0.00307968	0.00330164	0.003080	1	0
CLCA2	9635	broad.mit.edu	37	1	86919278	86919278	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:86919278G>T	ENST00000370565.4	+	13	2544	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	794					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.Q794H(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACTTTGATCAGGGCCAGGGTA	0.418000													20	45					4.96729e-08	5.7669e-08	0.008871	1	0
RYR2	6262	broad.mit.edu	37	1	237604627	237604627	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:237604627G>A	ENST00000366574.2	+	13	1331	c.1014G>A	c.(1012-1014)ttG>ttA	p.L338L	RYR2_ENST00000360064.6_Silent_p.L336L|RYR2_ENST00000542537.1_Silent_p.L322L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	338	MIR 4.				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	p.L336L(1)		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)			AGGAAAAATTGGATGTAGGGG	0.373000													25	49					0	0	0.006320	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538143	27538143	+	RNA	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:27538143C>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TATGGCAAGCCCCAGGTCTGG	0.537000													65	99					0	0	0.003610	0	0
PALD1	27143	broad.mit.edu	37	10	72298677	72298677	+	Silent	SNP	G	G	T	rs145017915		TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:72298677G>T	ENST00000263563.6	+	13	1750	c.1482G>T	c.(1480-1482)gcG>gcT	p.A494A		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.A494A(1)									CCCCGGACGCGCTCAGCACTG	0.682000													66	107					3.28615e-30	5.11179e-30	0.003610	1	0
ASTN2	23245	broad.mit.edu	37	9	119582987	119582987	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr9:119582987C>A	ENST00000313400.4	-	12	2216	c.2116G>T	c.(2116-2118)Ggc>Tgc	p.G706C	ASTN2_ENST00000373996.3_Missense_Mutation_p.G702C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.G655C			O75129	ASTN2_HUMAN	astrotactin 2	706	EGF-like 3.					integral to membrane		p.G655C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCATTAAAGCCATCAGAGCAG	0.582000													21	16					2.64894e-19	3.73046e-19	0.003610	1	0
ITGAX	3687	broad.mit.edu	37	16	31368684	31368684	+	Splice_Site	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:31368684G>T	ENST00000268296.4	+	5	550	c.430_splice	c.e5+1	p.Q143_splice	ITGAX_ENST00000562522.1_Splice_Site_p.Q143_splice|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	143					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.Q143H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGTCCAGGCAGGGTGAGTGTC	0.622000													9	3					0.000978159	0.0010606	0.010729	1	0
ETS1	2113	broad.mit.edu	37	11	128391816	128391816	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:128391816G>A	ENST00000345075.4	-	1	389	c.74C>T	c.(73-75)cCc>cTc	p.P25L	ETS1_ENST00000319397.5_Missense_Mutation_p.P25L|ETS1_ENST00000531611.1_Missense_Mutation_p.P25L|ETS1_ENST00000535549.1_Missense_Mutation_p.P25L|ETS1_ENST00000392668.3_Intron|ETS1_ENST00000526145.1_Missense_Mutation_p.P25L			P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	25					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P25L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ACCCGGGGAGGGGAAAAGCTC	0.647000													32	46					0	0	0.006230	0	0
IRAK1	3654	broad.mit.edu	37	X	153278822	153278822	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:153278822G>T	ENST00000369980.3	-	12	1769	c.1602C>A	c.(1600-1602)gcC>gcA	p.A534A	IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000369974.2_Silent_p.A455A|IRAK1_ENST00000477274.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	534					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	p.A534A(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCTGGCGGCCTCCGAAT	0.657000													27	49					4.87955e-14	6.19378e-14	0.005443	1	0
SHROOM3	57619	broad.mit.edu	37	4	77675915	77675915	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:77675915C>T	ENST00000296043.6	+	7	5232	c.4279C>T	c.(4279-4281)Cct>Tct	p.P1427S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1427					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.P1426S(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCAGTGGCCACCTCCTTCTCG	0.592000													13	27					0	0	0.001855	0	0
ASTL	431705	broad.mit.edu	37	2	96799187	96799187	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:96799187G>A	ENST00000342380.2	-	5	431	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	144					proteolysis		metalloendopeptidase activity|zinc ion binding	p.F144F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGATGGAAATGAAGTCTCTCT	0.532000													34	126					0	0	0.003755	0	0
ASAP1	50807	broad.mit.edu	37	8	131073151	131073151	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:131073151G>A	ENST00000357668.1	-	27	2893	c.2866C>T	c.(2866-2868)Ccg>Tcg	p.P956S	ASAP1_ENST00000518721.1_Missense_Mutation_p.P956S			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	956	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.P956S(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGCTTAGGCGGCAAATCTCCA	0.572000													7	441					0	0	0.004482	0	0
UTP6	55813	broad.mit.edu	37	17	30192423	30192423	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:30192423T>A	ENST00000261708.4	-	18	1735	c.1598A>T	c.(1597-1599)tAt>tTt	p.Y533F		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	533					rRNA processing	nucleolus	binding	p.Y533F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGCTCTCTCATAATATTCTCT	0.363000													47	52					0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215812271	215812271	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:215812271T>C	ENST00000272895.7	-	48	7333	c.7114A>G	c.(7114-7116)Aaa>Gaa	p.K2372E	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.K2054E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2372	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.K2372E(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTAAGGAGTTTATGAACAGTC	0.413000													9	61					0	0	0.006214	0	0
TRPC4	7223	broad.mit.edu	37	13	38357161	38357161	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr13:38357161T>A	ENST00000379705.3	-	2	1167	c.310A>T	c.(310-312)Atc>Ttc	p.I104F	TRPC4_ENST00000379673.2_Missense_Mutation_p.I104F|TRPC4_ENST00000379679.1_Missense_Mutation_p.I104F|TRPC4_ENST00000447043.1_Missense_Mutation_p.I104F|TRPC4_ENST00000358477.2_Missense_Mutation_p.I104F|TRPC4_ENST00000338947.5_Missense_Mutation_p.I104F|TRPC4_ENST00000426868.2_Missense_Mutation_p.I104F|TRPC4_ENST00000355779.2_Missense_Mutation_p.I104F|TRPC4_ENST00000379681.3_Missense_Mutation_p.I104F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	104	Multimerization domain (By similarity).				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	p.I104F(2)		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)		TCTTTTCTGATAGCATGTAAT	0.363000													14	75					0	0	0.004007	0	0
DPP6	1804	broad.mit.edu	37	7	154172096	154172096	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:154172096A>T	ENST00000404039.1	+	3	826	c.239A>T	c.(238-240)cAt>cTt	p.H80L	DPP6_ENST00000377770.3_Missense_Mutation_p.H144L|DPP6_ENST00000332007.3_Missense_Mutation_p.H82L|DPP6_ENST00000427557.1_Missense_Mutation_p.H82L|DPP6_ENST00000406326.1_Missense_Mutation_p.H144L|DPP6_ENST00000496611.1_3'UTR	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	144					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.H144L(2)|p.H82L(1)|p.H80L(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTCAAAATTCATGACCCCGAG	0.438000													33	64					0	0	0.002836	0	0
MLXIPL	51085	broad.mit.edu	37	7	73020022	73020022	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:73020022G>A	ENST00000313375.3	-	7	944	c.897C>T	c.(895-897)atC>atT	p.I299I	MLXIPL_ENST00000354613.1_Silent_p.I299I|MLXIPL_ENST00000395189.1_Silent_p.I206I|MLXIPL_ENST00000414749.2_Silent_p.I299I|MLXIPL_ENST00000429400.2_Silent_p.I299I|MLXIPL_ENST00000434326.1_Silent_p.I206I	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	299					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.I299I(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCCCACCTGAGATGTCCATGA	0.642000													7	12					0	0	0.010729	0	0
SRPX2	27286	broad.mit.edu	37	X	99920543	99920543	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:99920543C>A	ENST00000373004.3	+	7	1098	c.670C>A	c.(670-672)Cgg>Agg	p.R224R		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	224	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.R224R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGTGACACTTCGGGGCCCTGA	0.537000													19	104					1.00905e-13	1.26396e-13	0.008871	1	0
TBC1D25	4943	broad.mit.edu	37	X	48399786	48399786	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:48399786C>A	ENST00000376771.4	+	2	530	c.189C>A	c.(187-189)ctC>ctA	p.L63L	TBC1D25_ENST00000427713.1_Silent_p.L63L|TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	63						intracellular	Rab GTPase activator activity	p.L63L(2)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCACCTCGCTCGACGTGTTGC	0.577000													53	177					4.54978e-40	7.49376e-40	0.003610	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135827428	135827428	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:135827428G>T	ENST00000250617.6	-	4	1618	c.413C>A	c.(412-414)gCa>gAa	p.A138E	ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	138					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.A138E(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GCTAGAAACTGCTCCCTGTGG	0.423000													210	377					8.36876e-104	1.46453e-103	0.003610	1	0
NOP14	8602	broad.mit.edu	37	4	2956197	2956197	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:2956197C>A	ENST00000416614.2	-	4	631	c.566G>T	c.(565-567)cGg>cTg	p.R189L	NOP14_ENST00000502735.1_Missense_Mutation_p.R189L|NOP14_ENST00000398071.4_Missense_Mutation_p.R189L|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.R189L			P78316	NOP14_HUMAN	NOP14 nucleolar protein	189					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	p.R189L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CAGCTCTTTCCGGGACTTCGG	0.537000													53	103					1.39843e-22	2.06724e-22	0.003610	1	0
ZBTB33	10009	broad.mit.edu	37	X	119388004	119388004	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:119388004C>A	ENST00000326624.2	+	2	962	c.734C>A	c.(733-735)cCt>cAt	p.P245H	ZBTB33_ENST00000557385.1_Missense_Mutation_p.P245H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	245					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	p.P245H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AATATCACACCTACTCAGAAA	0.453000													32	106					8.4185e-14	1.06292e-13	0.012213	1	0
STARD8	9754	broad.mit.edu	37	X	67938321	67938321	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:67938321C>G	ENST00000252336.6	+	5	1697	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C	STARD8_ENST00000374597.3_Missense_Mutation_p.S442C|STARD8_ENST00000374599.3_Missense_Mutation_p.S522C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	442					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.S442C(2)|p.S522C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CACTCCATTTCTGACACTGTG	0.622000													3	35					0	0	0.001984	0	0
KIAA1614	57710	broad.mit.edu	37	1	180910191	180910191	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:180910191G>A	ENST00000367588.4	+	7	2984	c.2929G>A	c.(2929-2931)Gga>Aga	p.G977R	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G598R	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	977	Ser-rich.							p.G977R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGCATCAGCAGGAGCTGGCAC	0.647000													13	16					0	0	0.001855	0	0
C10orf12	26148	broad.mit.edu	37	10	98741350	98741350	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:98741350G>T	ENST00000286067.2	+	1	310	c.203G>T	c.(202-204)cGc>cTc	p.R68L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	68								p.R68L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACACCTTTGCGCCAGGATTTA	0.428000													49	84					2.13384e-23	3.20412e-23	0.003610	1	0
MC5R	4161	broad.mit.edu	37	18	13826676	13826676	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr18:13826676G>T	ENST00000324750.3	+	1	1134	c.912G>T	c.(910-912)aaG>aaT	p.K304N		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	304					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.K304N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGATGCGGAAGACCTTTAAGG	0.483000													46	60					1.66251e-12	2.05014e-12	0.003610	1	0
DSTYK	25778	broad.mit.edu	37	1	205156672	205156672	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:205156672C>A	ENST00000367162.3	-	2	558	c.528G>T	c.(526-528)acG>acT	p.T176T	DSTYK_ENST00000367161.3_Silent_p.T176T|DSTYK_ENST00000367160.4_Silent_p.T176T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	176						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T176T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GAGCAACCAGCGTGTGCACTA	0.572000													24	46					1.64293e-13	2.05259e-13	0.003330	1	0
CACNA1G	8913	broad.mit.edu	37	17	48685363	48685363	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:48685363T>C	ENST00000352832.5	+	24	4991	c.4619T>C	c.(4618-4620)cTg>cCg	p.L1540P	CACNA1G_ENST00000503485.1_Missense_Mutation_p.L1529P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L1540P|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L1563P|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L1563P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L1540P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L1529P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L1506P|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L1563P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1540P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L1540P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L1540P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L1529P|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L1563P|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L1540P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L1529P	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1563					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.L1563P(2)|p.L1540P(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTACGAAGACTGGAGAAAAAG	0.582000													3	12					0	0	0.009096	0	0
SOWAHD	347454	broad.mit.edu	37	X	118893473	118893473	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:118893473G>T	ENST00000343905.3	+	1	898	c.843G>T	c.(841-843)agG>agT	p.R281S		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	281								p.R357S(1)									AGACAAGCAGGAGAGTGGCAG	0.657000													5	17					1.12685e-05	1.26505e-05	0.004482	1	0
PYHIN1	149628	broad.mit.edu	37	1	158913669	158913669	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:158913669C>T	ENST00000368140.1	+	6	1337	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	PYHIN1_ENST00000368138.3_Silent_p.I355I|PYHIN1_ENST00000392254.2_Silent_p.I364I|PYHIN1_ENST00000392252.3_Silent_p.I355I|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	364	HIN-200.				cell cycle	nuclear speck		p.I364I(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCCACAATATCCCCTGTGAAA	0.378000													18	73					0	0	0.008871	0	0
SVIL	6840	broad.mit.edu	37	10	29821031	29821031	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:29821031G>A	ENST00000375398.2	-	11	2358	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	SVIL_ENST00000355867.4_Missense_Mutation_p.R637W|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	637					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.R637W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTTGGTTTCCGGGACCCTCTC	0.493000													16	109					0	0	0.003163	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039400	153039400	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:153039400C>A	ENST00000538966.1	+	21	3706	c.3435C>A	c.(3433-3435)gtC>gtA	p.V1145V	PLXNB3_ENST00000361971.5_Silent_p.V1122V|PLXNB3_ENST00000538282.1_Silent_p.V732V|PLXNB3_ENST00000538776.1_Silent_p.V775V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1122	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.V1122V(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGCGGGTCTTCTTCACCC	0.662000													36	137					3.05275e-18	4.1756e-18	0.013114	1	0
MYH2	4620	broad.mit.edu	37	17	10439914	10439914	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:10439914C>T	ENST00000245503.5	-	17	2291	c.1907G>A	c.(1906-1908)gGt>gAt	p.G636D	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G636D|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.G636D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	636	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G636D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCCCTCCACCAGCTCCCTC	0.438000													15	7					0	0	0.003163	0	0
RUFY2	55680	broad.mit.edu	37	10	70154113	70154113	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:70154113C>T	ENST00000388768.2	-	5	925	c.599G>A	c.(598-600)tGt>tAt	p.C200Y	RUFY2_ENST00000602465.1_Missense_Mutation_p.C165Y|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Missense_Mutation_p.C165Y|RUFY2_ENST00000454950.2_Missense_Mutation_p.C107Y|RUFY2_ENST00000399200.2_Missense_Mutation_p.C131Y	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	214	RUN.					nucleus	metal ion binding	p.C200Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCCCTTCACACACAGATTAGC	0.438000													20	85					0	0	0.002780	0	0
LIN9	286826	broad.mit.edu	37	1	226485450	226485450	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:226485450T>A	ENST00000328205.5	-	3	722	c.177A>T	c.(175-177)aaA>aaT	p.K59N	LIN9_ENST00000366801.1_Missense_Mutation_p.K43N|LIN9_ENST00000481685.1_Missense_Mutation_p.K59N	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	43	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm		p.K59N(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TATTCCTGCCTTTCCAAACAG	0.333000													51	107					0	0	0.003610	0	0
ENGASE	64772	broad.mit.edu	37	17	77082391	77082391	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:77082391A>T	ENST00000579016.1	+	14	2192	c.2192A>T	c.(2191-2193)gAg>gTg	p.E731V		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	731			E -> K (in dbSNP:rs11871357).			cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.E731V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTCAGGCCGAGTGGGGCAGG	0.657000													28	45					0	0	0.007291	0	0
SLC28A2	9153	broad.mit.edu	37	15	45557792	45557792	+	Silent	SNP	C	C	T	rs114596394	byFrequency	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:45557792C>T	ENST00000347644.3	+	9	857	c.792C>T	c.(790-792)atC>atT	p.I264I	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	264					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.I264I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CCTTACCAATCATCATTTTCT	0.448000													12	142					0	0	0.004007	0	0
GRIK5	2901	broad.mit.edu	37	19	42525511	42525511	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:42525511G>T	ENST00000262895.3	-	14	1812	c.1813C>A	c.(1813-1815)Cag>Aag	p.Q605K	GRIK5_ENST00000593562.1_Missense_Mutation_p.Q605K|GRIK5_ENST00000301218.4_Missense_Mutation_p.Q605K	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	605						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Q605K(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GAGCCCTGCTGCATGAAGCCC	0.652000													7	11					5.4927e-09	6.5038e-09	0.004482	1	0
MCF2	4168	broad.mit.edu	37	X	138708396	138708396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:138708396C>A	ENST00000520602.1	-	9	1108	c.823G>T	c.(823-825)Gag>Tag	p.E275*	MCF2_ENST00000414978.1_Nonsense_Mutation_p.E275*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.E215*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.E215*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.E275*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.E176*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.E360*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.E215*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	215					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.E215*(2)|p.E275*(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGATACTGCTCCATTTTTAAT	0.333000													24	117					9.86323e-18	1.33e-17	0.003954	1	0
AVIL	10677	broad.mit.edu	37	12	58201181	58201181	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:58201181C>T	ENST00000537081.1	-	12	1402	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	AVIL_ENST00000257861.3_Missense_Mutation_p.R475Q|TSFM_ENST00000548851.1_Intron			O75366	AVIL_HUMAN	advillin	475	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	p.R475Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CATCCTGACTCGAACCTGCAC	0.557000													147	34					0	0	0.003610	0	0
YTHDF3	253943	broad.mit.edu	37	8	64098921	64098921	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:64098921T>C	ENST00000539294.1	+	4	665	c.349T>C	c.(349-351)Ttt>Ctt	p.F117L	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	118												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TACCCCTCCATTTCTTGGTCA	0.408000													55	47					0	0	0.003610	0	0
DDB1	1642	broad.mit.edu	37	11	61084007	61084007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:61084007C>A	ENST00000301764.7	-	11	1655	c.1258G>T	c.(1258-1260)Gag>Tag	p.E420*	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	420	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.E420*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATCAGTCTCACGATTAGGG	0.512000								Nucleotide excision repair (NER)					53	195					6.176e-18	8.39935e-18	0.003610	1	0
SYTL4	94121	broad.mit.edu	37	X	99956257	99956257	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:99956257C>A	ENST00000372981.1	-	4	581	c.395G>T	c.(394-396)gGt>gTt	p.G132V	SYTL4_ENST00000276141.6_Missense_Mutation_p.G132V|SYTL4_ENST00000263033.5_Missense_Mutation_p.G132V|SYTL4_ENST00000372989.1_Missense_Mutation_p.G132V|SYTL4_ENST00000454200.2_Missense_Mutation_p.G132V|SYTL4_ENST00000455616.1_Missense_Mutation_p.G132V			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	132					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.G132V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATCTCACTACCTGTGCGGTA	0.448000													13	65					7.93312e-07	9.03389e-07	0.002450	1	0
GPC5	2262	broad.mit.edu	37	13	92345504	92345504	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr13:92345504A>G	ENST00000377067.3	+	3	761	c.389A>G	c.(388-390)tAc>tGc	p.Y130C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	130						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Y130C(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCAGTACCTACAGGAACATG	0.413000													25	101					0	0	0.006320	0	0
TPTE	7179	broad.mit.edu	37	21	10951295	10951295	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr21:10951295C>A	ENST00000298232.7	-	9	730	c.363G>T	c.(361-363)atG>atT	p.M121I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.M101I|TPTE_ENST00000361285.4_Missense_Mutation_p.M139I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	139					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(1)|p.M139_D140>IY(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAGAACATCCATGAGAAAAA	0.343000													34	80					1.836e-18	2.52583e-18	0.003755	1	0
MARCH1	55016	broad.mit.edu	37	4	164507069	164507069	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:164507069G>A	ENST00000503008.1	-	6	1231	c.255C>T	c.(253-255)tgC>tgT	p.C85C	MARCH1_ENST00000339875.5_Silent_p.C68C|MARCH1_ENST00000514618.1_Silent_p.C341C|MARCH1_ENST00000274056.7_Silent_p.C85C	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	85					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.C68C(1)|p.C85C(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CATCCCCTTCGCAGTGACAGA	0.527000													10	23					0	0	0.010729	0	0
HCFC1	3054	broad.mit.edu	37	X	153216379	153216379	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:153216379T>G	ENST00000310441.7	-	23	6554	c.5588A>C	c.(5587-5589)aAg>aCg	p.K1863T	HCFC1_ENST00000354233.3_Missense_Mutation_p.K1794T|HCFC1_ENST00000369984.4_Missense_Mutation_p.K1908T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1863					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.K1863T(1)|p.K1766T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACACGAAACTTATAGGCTGT	0.572000													84	509					0	0	0.003610	0	0
OTOF	9381	broad.mit.edu	37	2	26705389	26705389	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:26705389G>A	ENST00000272371.2	-	14	1590	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	OTOF_ENST00000403946.3_Silent_p.F488F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	488	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.F488F(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGTGGGGGGAAGAGGTCTG	0.567000													46	80					0	0	0.003610	0	0
PIM2	11040	broad.mit.edu	37	X	48771797	48771797	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:48771797G>C	ENST00000376509.4	-	5	836	c.647C>G	c.(646-648)gCa>gGa	p.A216G	PIM2_ENST00000485431.1_5'UTR	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	216	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	p.A216G(1)		lung(3)|stomach(1)	4						GGCCGGGAGTGCATGGTACTG	0.562000													13	44					0	0	0.001855	0	0
SCFD2	152579	broad.mit.edu	37	4	54232021	54232021	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:54232021C>A	ENST00000401642.3	-	1	221	c.88G>T	c.(88-90)Gcc>Tcc	p.A30S	SCFD2_ENST00000388940.4_Missense_Mutation_p.A30S	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	30					protein transport|vesicle docking involved in exocytosis			p.A30S(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCGCAGGCGGCGTCCAGGTAA	0.657000													22	34					4.72057e-08	5.50733e-08	0.003954	1	0
MYO16	23026	broad.mit.edu	37	13	109475528	109475528	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr13:109475528G>T	ENST00000356711.2	+	9	1059	c.933G>T	c.(931-933)tgG>tgT	p.W311C	MYO16_ENST00000251041.5_Missense_Mutation_p.W311C|MYO16_ENST00000357550.2_Missense_Mutation_p.W311C	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	311					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.W311C(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAATTGCCTGGGAAGAAAAAA	0.398000													40	126					1.41504e-22	2.08531e-22	0.011902	1	0
KRT13	3860	broad.mit.edu	37	17	39661336	39661336	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:39661336T>C	ENST00000246635.3	-	1	513	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	KRT13_ENST00000587544.1_Missense_Mutation_p.Y156C|KRT13_ENST00000336861.3_Missense_Mutation_p.Y156C	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	156	Linker 1.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.Y156C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				AATGGTCTTGTAGTAGGGGCT	0.607000													12	70					0	0	0.001368	0	0
CNTN4	152330	broad.mit.edu	37	3	3076339	3076339	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:3076339G>A	ENST00000397461.1	+	16	2191	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M	CNTN4_ENST00000358480.3_Missense_Mutation_p.V384M|CNTN4_ENST00000448906.2_Missense_Mutation_p.V275M|CNTN4_ENST00000397459.2_Missense_Mutation_p.V275M|CNTN4_ENST00000427331.1_Missense_Mutation_p.V603M|CNTN4_ENST00000418658.1_Missense_Mutation_p.V603M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	603	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.V603M(1)|p.V275M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCCAGAGGCTGTGACAATAGA	0.532000													42	23					0	0	0.009718	0	0
VGLL1	51442	broad.mit.edu	37	X	135618294	135618294	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:135618294A>T	ENST00000370634.3	+	2	285	c.115A>T	c.(115-117)Agc>Tgc	p.S39C		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.S39C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GGACATCAGCAGCGTAGTGGA	0.517000													23	170					0	0	0.004656	0	0
OCRL	4952	broad.mit.edu	37	X	128692825	128692825	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:128692825G>T	ENST00000371113.4	+	8	734	c.569G>T	c.(568-570)cGt>cTt	p.R190L	OCRL_ENST00000357121.5_Missense_Mutation_p.R190L|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	190					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.R190L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGGCTTCCACGTGAAAAAGAA	0.403000													25	135					7.87624e-14	9.97099e-14	0.002780	1	0
FGD5	152273	broad.mit.edu	37	3	14940269	14940269	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:14940269G>C	ENST00000285046.5	+	7	3200	c.3090G>C	c.(3088-3090)caG>caC	p.Q1030H	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.Q789H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1030	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.Q789H(1)|p.Q1030H(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GAGGCAGCCAGACTGCGAAGC	0.572000													6	2					0	0	0.001168	0	0
AQP12A	375318	broad.mit.edu	37	2	241631419	241631419	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:241631419C>A	ENST00000429564.1	+	1	152	c.89C>A	c.(88-90)cCa>cAa	p.P30Q	AQP12A_ENST00000337801.4_Missense_Mutation_p.P30Q			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	30						integral to membrane	transporter activity	p.P30K(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCCCTGCTCCCAGTGGGCGCC	0.692000													18	63					2.39187e-15	3.10227e-15	0.008871	1	0
ASTN1	460	broad.mit.edu	37	1	176927511	176927511	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:176927511A>T	ENST00000367654.2	-	10	1743	c.1730T>A	c.(1729-1731)aTg>aAg	p.M577K	ASTN1_ENST00000367657.3_Missense_Mutation_p.M569K|ASTN1_ENST00000361833.2_Missense_Mutation_p.M569K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.M569K			O14525	ASTN1_HUMAN	astrotactin 1	577					cell migration|neuron cell-cell adhesion	integral to membrane		p.M569K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATCACAGTCATGTCCGTCTT	0.527000													34	60					0	0	0.003610	0	0
BTRC	8945	broad.mit.edu	37	10	103281468	103281468	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:103281468G>A	ENST00000370187.3	+	5	515	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	BTRC_ENST00000408038.2_Missense_Mutation_p.E97K|BTRC_ENST00000393441.4_Missense_Mutation_p.E92K	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	133	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		p.E133K(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTATGAAAAGGAAAAGGAACT	0.408000													35	75					0	0	0.004878	0	0
TRIB2	28951	broad.mit.edu	37	2	12880878	12880878	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:12880878G>A	ENST00000155926.4	+	3	2409	c.990G>A	c.(988-990)ccG>ccA	p.P330P	TRIB2_ENST00000381465.2_Silent_p.P194P	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	330					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.P330P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCTGGTGCCGGACGTCAACA	0.512000													36	42					0	0	0.007835	0	0
IGSF11	152404	broad.mit.edu	37	3	118647443	118647443	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:118647443A>T	ENST00000354673.2	-	5	714	c.334T>A	c.(334-336)Tca>Aca	p.S112T	IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000489689.1_Missense_Mutation_p.S113T|IGSF11_ENST00000491903.1_Missense_Mutation_p.S113T|IGSF11_ENST00000441144.2_Missense_Mutation_p.S112T|IGSF11_ENST00000425327.2_Missense_Mutation_p.S112T|IGSF11_ENST00000393775.2_Missense_Mutation_p.S113T	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	113	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.S113T(1)|p.S112T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCAGTGTCTGATAACTGAGTG	0.507000													50	23					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:7577610T>C	ENST00000420246.2	-	7	805		c.e7-2		TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGAGCCAACCTAGGAGATAAC	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	19					0	0	0.008361	0	0
SPANXN4	441525	broad.mit.edu	37	X	142121947	142121947	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:142121947C>A	ENST00000370504.3	+	2	295	c.212C>A	c.(211-213)cCt>cAt	p.P71H	SPANXN4_ENST00000446864.1_Missense_Mutation_p.P72H			Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	72								p.P72H(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AATAACCAGCCTACAGAGAGC	0.393000													4	5					0.00909568	0.00964264	0.009096	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5232579	5232579	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:5232579G>T	ENST00000274181.7	+	12	1938	c.1800G>T	c.(1798-1800)agG>agT	p.R600S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	600	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R600S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATGCTCCAGGACCTGCGGAG	0.567000													70	146					2.54232e-27	3.89113e-27	0.003610	1	0
GPR112	139378	broad.mit.edu	37	X	135426945	135426945	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:135426945G>T	ENST00000394143.1	+	6	1371	c.1080G>T	c.(1078-1080)atG>atT	p.M360I	GPR112_ENST00000287534.4_Missense_Mutation_p.M297I|GPR112_ENST00000394141.1_Missense_Mutation_p.M155I|GPR112_ENST00000412101.1_Missense_Mutation_p.M155I|GPR112_ENST00000370652.1_Missense_Mutation_p.M360I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	360					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M360I(1)		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)					TTGAAGCCATGGCTACTGAAA	0.363000													39	76					7.53189e-24	1.13455e-23	0.007835	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130766776	130766776	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:130766776G>C	ENST00000509018.1	-	26	4446	c.4241C>G	c.(4240-4242)tCt>tGt	p.S1414C	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1427C|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1422C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1422C|FNIP1_ENST00000514667.1_Missense_Mutation_p.S1464C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1414	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	p.S1414C(1)|p.S1427C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAGCTTTTAGAACAGGAATA	0.448000													5	124					0	0	0.000602	0	0
ENPP3	5169	broad.mit.edu	37	6	131962629	131962629	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:131962629G>A	ENST00000414305.1	+	3	441	c.113G>A	c.(112-114)gGa>gAa	p.G38E	ENPP3_ENST00000357639.3_Missense_Mutation_p.G38E|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.G38E|ENPP3_ENST00000543135.1_Missense_Mutation_p.G4E|ENPP3_ENST00000427148.2_Missense_Mutation_p.G4E			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	38					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.G38E(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGTCACTTGGATTAGGCCTG	0.373000													6	51					0	0	0.003080	0	0
PTPN5	84867	broad.mit.edu	37	11	18763817	18763817	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:18763817C>A	ENST00000396170.1	-	7	1885	c.621G>T	c.(619-621)ctG>ctT	p.L207L	PTPN5_ENST00000396167.2_Silent_p.L207L|PTPN5_ENST00000396168.1_Silent_p.L215L|PTPN5_ENST00000358540.2_Silent_p.L239L|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Silent_p.L239L|PTPN5_ENST00000477854.1_Silent_p.L43L	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	239						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.L239L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ACCTCTCCTGCAGACCCATGG	0.607000													4	128					1.23904e-05	1.38447e-05	0.000602	1	0
RYR2	6262	broad.mit.edu	37	1	237870570	237870570	+	Splice_Site	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:237870570G>T	ENST00000366574.2	+	68	10218		c.e68+1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						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	p.?(1)		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)			AGGCTAGCAGGTAAGAACTGG	0.343000													9	9					5.16669e-11	6.28988e-11	0.010729	1	0
MSH4	4438	broad.mit.edu	37	1	76349325	76349325	+	Silent	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:76349325T>C	ENST00000263187.3	+	15	2030	c.1926T>C	c.(1924-1926)gaT>gaC	p.D642D		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	642					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.D642D(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AATTTACTGATACTTTAGCAA	0.294000								Mismatch excision repair (MMR)					19	27					0	0	0.008871	0	0
OR1S1	219959	broad.mit.edu	37	11	57982931	57982931	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:57982931C>A	ENST00000309433.6	+	1	715	c.715C>A	c.(715-717)Ctg>Atg	p.L239M		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L239M(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CAGAGCTGTCCTGAGAGTATC	0.433000													44	70					3.21987e-24	4.88108e-24	0.003610	1	0
ZNF724P	440519	broad.mit.edu	37	19	23405524	23405524	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:23405524C>A	ENST00000418100.1	-	4	1640	c.1523G>T	c.(1522-1524)tGt>tTt	p.C508F															p.C508F(2)		endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						ACATTCTTTACATTTGTAGGG	0.378000													23	20					2.27525e-19	3.21371e-19	0.003954	1	0
ISYNA1	51477	broad.mit.edu	37	19	18546132	18546132	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:18546132G>T	ENST00000545187.1	-	7	1252	c.966C>A	c.(964-966)ggC>ggA	p.G322G	ISYNA1_ENST00000457269.3_Silent_p.G418G|ISYNA1_ENST00000578963.1_Silent_p.G344G|ISYNA1_ENST00000317018.6_Silent_p.G270G|ISYNA1_ENST00000338128.7_Silent_p.G472G			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	472					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	p.G472G(1)		breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCACCGGGCTGCCGGGCGGCA	0.667000													6	83					2.0095e-06	2.27202e-06	0.001984	1	0
DNAAF3	352909	broad.mit.edu	37	19	55671280	55671280	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:55671280A>G	ENST00000527223.2	-	10	1352	c.1351T>C	c.(1351-1353)Tat>Cat	p.Y451H	DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.L45P|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Missense_Mutation_p.Y384H|DNAAF3_ENST00000391720.4_Missense_Mutation_p.Y431H|DNAAF3_ENST00000455045.1_Missense_Mutation_p.Y330H	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	384								p.Y431H(1)									CAGGCCACATAGAGGAGCTGG	0.632000													32	24					0	0	0.003610	0	0
SYNE3	161176	broad.mit.edu	37	14	95921952	95921952	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:95921952C>G	ENST00000334258.5	-	5	913	c.899G>C	c.(898-900)gGa>gCa	p.G300A	SYNE3_ENST00000553340.1_Missense_Mutation_p.G300A|SYNE3_ENST00000554873.1_Missense_Mutation_p.G57A|SYNE3_ENST00000557275.1_Missense_Mutation_p.G300A	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.G300A(3)		breast(1)|endometrium(2)|lung(25)	28						TTCCAGTTCTCCGGTGATCTT	0.617000													41	237					0	0	0.009718	0	0
BAP1	8314	broad.mit.edu	37	3	52439224	52439224	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:52439224C>T	ENST00000460680.1	-	11	1489	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	BAP1_ENST00000296288.5_Missense_Mutation_p.G322S	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	340					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G340S(1)|p.V335fs*10(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGGCTGCTGCCTGGAGGCTTC	0.592000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							89	62					0	0	0.003610	0	0
KEAP1	9817	broad.mit.edu	37	19	10610343	10610343	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:10610343C>A	ENST00000171111.5	-	2	914	c.367G>T	c.(367-369)Gtg>Ttg	p.V123L	KEAP1_ENST00000393623.2_Missense_Mutation_p.V123L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	123	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.V123L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TCAATGGACACCACCTCCATG	0.607000													21	15					9.57634e-11	1.16284e-10	0.003330	1	0
TENM1	10178	broad.mit.edu	37	X	123538980	123538980	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:123538980G>A	ENST00000422452.2	-	27	5355	c.5292C>T	c.(5290-5292)aaC>aaT	p.N1764N	TENM1_ENST00000371130.3_Silent_p.N1757N|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.N1759N(1)									GCAATGAGATGTTGCATTTGC	0.567000													9	242					0	0	0.008291	0	0
ARHGAP6	395	broad.mit.edu	37	X	11187744	11187744	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:11187744G>T	ENST00000337414.4	-	9	2562	c.1690C>A	c.(1690-1692)Cac>Aac	p.H564N	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.H361N|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.H564N|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.H361N|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.H373N|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.H596N|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.H389N|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	564	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.H564N(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCTGCTTGTGCAGCAGGTTG	0.443000													87	59					2.84844e-50	4.808e-50	0.003610	1	0
TG	7038	broad.mit.edu	37	8	133984064	133984064	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:133984064G>A	ENST00000220616.4	+	33	6041	c.6001G>A	c.(6001-6003)Gat>Aat	p.D2001N	TG_ENST00000377869.1_Missense_Mutation_p.D1944N|TG_ENST00000519543.1_Missense_Mutation_p.D155N|TG_ENST00000542445.1_Missense_Mutation_p.D371N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2001					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.D2001N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACGACGGTGCGATGCGGACCC	0.498000													36	160					0	0	0.006230	0	0
LRR1	122769	broad.mit.edu	37	14	50074328	50074328	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:50074328G>A	ENST00000298288.6	+	3	817	c.493G>A	c.(493-495)Ggg>Agg	p.G165R	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	165								p.G165R(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCTTACTGTGGGCTTGTCCG	0.348000													20	86					0	0	0.003330	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802439	185802439	+	Silent	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:185802439T>C	ENST00000302277.6	+	4	2910	c.2316T>C	c.(2314-2316)cgT>cgC	p.R772R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	772						intracellular	zinc ion binding	p.R772R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCGAAAACGTAGACAACATT	0.343000													16	60					0	0	0.003163	0	0
RET	5979	broad.mit.edu	37	10	43606770	43606770	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:43606770A>T	ENST00000355710.3	+	7	1611	c.1379A>T	c.(1378-1380)gAc>gTc	p.D460V	RET_ENST00000340058.5_Missense_Mutation_p.D460V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	460					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.D460V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCAGCCGAGGACACCTCGGGG	0.592000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				48	120					0	0	0.003610	0	0
CCDC180	100499483	broad.mit.edu	37	9	100133895	100133895	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr9:100133895G>T	ENST00000375202.2	+	48	5991	c.4639G>T	c.(4639-4641)Ggc>Tgc	p.G1547C	CCDC180_ENST00000357054.1_Missense_Mutation_p.G1492C|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.G1547C|CCDC180_ENST00000395220.1_3'UTR					coiled-coil domain containing 180									p.G1492C(1)|p.G1547C(1)									CAGAAGGAATGGCCAGGTTTT	0.507000													25	9					1.2476e-16	1.6496e-16	0.006320	1	0
ENOX1	55068	broad.mit.edu	37	13	43935496	43935496	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr13:43935496G>T	ENST00000261488.6	-	6	878	c.301C>A	c.(301-303)Cct>Act	p.P101T	ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P101T	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	101	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.P101T(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGTGGGGGAGGTACCAGTCCA	0.458000													57	71					4.9621e-21	7.09297e-21	0.003610	1	0
BCAP29	55973	broad.mit.edu	37	7	107236320	107236320	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:107236320G>A	ENST00000379119.2	+	4	367	c.353G>A	c.(352-354)aGa>aAa	p.R118K	BCAP29_ENST00000379117.2_Missense_Mutation_p.R118K|BCAP29_ENST00000445771.2_Missense_Mutation_p.R118K|BCAP29_ENST00000005259.4_Missense_Mutation_p.R118K|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000465919.1_Missense_Mutation_p.R24K|BCAP29_ENST00000379121.2_Missense_Mutation_p.R24K	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	118					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		p.R118K(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AGAGTTTTGAGACGTCTGGTT	0.333000													26	74					0	0	0.007291	0	0
ABCB8	11194	broad.mit.edu	37	7	150731915	150731915	+	Splice_Site	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:150731915A>T	ENST00000358849.4	+	5	857	c.765_splice	c.e5+1	p.Q255_splice	ABCB8_ENST00000477719.1_Splice_Site_p.Q255_splice|ABCB8_ENST00000477092.1_Splice_Site_p.Q255_splice|ABCB8_ENST00000542328.1_Splice_Site_p.Q167_splice|ABCB8_ENST00000498578.1_Splice_Site_p.Q255_splice|ABCB8_ENST00000297504.6_Splice_Site_p.Q272_splice|ABCB8_ENST00000356058.4_Splice_Site_p.Q292_splice	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	272	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q255L(1)		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)		GTCATCTCCCAGGTCAGTGGC	0.582000													16	32					0	0	0.004990	0	0
VWA2	340706	broad.mit.edu	37	10	116038542	116038542	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:116038542C>T	ENST00000603594.1	+	8	1086	c.765C>T	c.(763-765)ggC>ggT	p.G255G	VWA2_ENST00000392982.3_Silent_p.G255G	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	255						extracellular region		p.G255G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGTTCGCTGGCAATGCCCCAT	0.647000													51	79					0	0	0.003610	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134128	91134128	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:91134128C>A	ENST00000373094.1	+	2	3734	c.2889C>A	c.(2887-2889)atC>atA	p.I963I	PCDH11X_ENST00000298274.8_Silent_p.I963I|PCDH11X_ENST00000361724.1_Silent_p.I963I|PCDH11X_ENST00000395337.2_Silent_p.I963I|PCDH11X_ENST00000361655.2_Silent_p.I963I|PCDH11X_ENST00000373097.1_Silent_p.I963I|PCDH11X_ENST00000373088.1_Silent_p.I963I|PCDH11X_ENST00000406881.1_Silent_p.I963I|PCDH11X_ENST00000504220.1_Silent_p.I963I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	963					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.Q964K(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCACATCATCCAAGAACTGC	0.512000													88	215					3.07327e-39	5.0444e-39	0.003610	1	0
TENM1	10178	broad.mit.edu	37	X	123631016	123631016	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:123631016C>A	ENST00000422452.2	-	20	3608	c.3545G>T	c.(3544-3546)tGc>tTc	p.C1182F	TENM1_ENST00000371130.3_Missense_Mutation_p.C1182F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.C1184F(1)									GCAGTTGGTGCAGGCTACACT	0.473000													14	63					4.7546e-09	5.64387e-09	0.004007	1	0
MME	4311	broad.mit.edu	37	3	154860027	154860027	+	Splice_Site	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:154860027G>T	ENST00000460393.1	+	12	1216	c.1094_splice	c.e12-1	p.D366_splice	MME_ENST00000493237.1_Splice_Site_p.D366_splice|MME_ENST00000492661.1_Splice_Site_p.D366_splice|MME_ENST00000462745.1_Splice_Site_p.D366_splice|MME_ENST00000360490.2_Splice_Site_p.D366_splice	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	366					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.D366Y(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTATACAGAGATCTTCAAAA	0.428000													53	91					3.31993e-32	5.28523e-32	0.003610	1	0
KNTC1	9735	broad.mit.edu	37	12	123089595	123089595	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:123089595A>C	ENST00000333479.7	+	50	5524	c.5347A>C	c.(5347-5349)Aat>Cat	p.N1783H	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.N208H|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1783					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.N1783H(1)|p.N1783fs*21(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCCTAGCATCAATCAAAGAAT	0.378000													13	11					0	0	0.001855	0	0
DIO2	1734	broad.mit.edu	37	14	80669424	80669424	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:80669424G>T	ENST00000557010.1	-	4	815	c.430C>A	c.(430-432)Cgc>Agc	p.R144S	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.R144S|DIO2_ENST00000555750.1_Missense_Mutation_p.R180S|DIO2_ENST00000557125.1_Silent_p.S18S	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	144					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.R180S(1)|p.R144S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCAGTTTGCGGAAGGCTGGC	0.572000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	30					1.01871e-10	1.23386e-10	0.008871	1	0
KLHL14	57565	broad.mit.edu	37	18	30275470	30275470	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr18:30275470T>G	ENST00000359358.4	-	4	1553	c.1115A>C	c.(1114-1116)aAc>aCc	p.N372T		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	372						cytosol|endoplasmic reticulum membrane		p.N372T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAACAAGAAGTTTTCCACCTC	0.403000													16	20					0	0	0.006122	0	0
SSPO	23145	broad.mit.edu	37	7	149489534	149489534	+	RNA	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:149489534G>T	ENST00000378016.2	+	0	5687							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAAGACGGACGGCCCCGACGC	0.697000													13	12					7.93312e-07	9.03389e-07	0.002450	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45716193	45716193	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:45716193C>A	ENST00000310806.4	-	2	755	c.297G>T	c.(295-297)aaG>aaT	p.K99N		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	99					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.K99N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTAATCCATCCTTGTTGGGCT	0.323000													51	71					1.0442e-30	1.64039e-30	0.003610	1	0
CUBN	8029	broad.mit.edu	37	10	16948341	16948341	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:16948341C>T	ENST00000377833.4	-	50	7838	c.7773G>A	c.(7771-7773)agG>agA	p.R2591R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2591	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R2591R(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGAGTAATTCCTGACTCCGT	0.408000													52	104					0	0	0.003610	0	0
NTRK3	4916	broad.mit.edu	37	15	88669516	88669516	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:88669516T>C	ENST00000394480.1	-	13	1703	c.1382A>G	c.(1381-1383)aAa>aGa	p.K461R	NTRK3_ENST00000317501.3_Missense_Mutation_p.K461R|NTRK3_ENST00000558676.1_Missense_Mutation_p.K453R|NTRK3_ENST00000542733.2_Missense_Mutation_p.K363R|NTRK3_ENST00000357724.2_Missense_Mutation_p.K453R|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Missense_Mutation_p.K453R|NTRK3_ENST00000355254.2_Missense_Mutation_p.K461R|NTRK3_ENST00000540489.2_Missense_Mutation_p.K461R|NTRK3_ENST00000360948.2_Missense_Mutation_p.K461R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	461					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K461R(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATTCCAAATTTGGACCGTCG	0.443000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			22	58					0	0	0.003954	0	0
PAPSS1	9061	broad.mit.edu	37	4	108566169	108566169	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:108566169A>G	ENST00000265174.4	-	10	1567	c.1295T>C	c.(1294-1296)aTg>aCg	p.M432T		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	432					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.M432T(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GGTATCCTGCATTAACAGGGC	0.488000													25	59					0	0	0.008361	0	0
EBF3	253738	broad.mit.edu	37	10	131671761	131671761	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:131671761G>A	ENST00000368648.3	-	8	808	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	EBF3_ENST00000355311.5_Missense_Mutation_p.R246C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	246					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.R246C(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGTCTAGGCGGCGGGCCCGC	0.507000													35	60					0	0	0.006999	0	0
ANKRD36	375248	broad.mit.edu	37	2	97866197	97866197	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:97866197G>T	ENST00000420699.2	+	46	3036	c.2792G>T	c.(2791-2793)aGt>aTt	p.S931I	ANKRD36_ENST00000461153.2_Missense_Mutation_p.S931I	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	931								p.S931I(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGGCCACAAGTGATGAGAAG	0.328000													4	17					0.00909568	0.00964264	0.009096	1	0
AVPR2	554	broad.mit.edu	37	X	153171598	153171598	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:153171598T>G	ENST00000358927.2	+	3	847	c.638T>G	c.(637-639)gTg>gGg	p.V213G	AVPR2_ENST00000370049.1_Missense_Mutation_p.V213G|AVPR2_ENST00000337474.5_Missense_Mutation_p.V213G			P30518	V2R_HUMAN	arginine vasopressin receptor 2	213					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.V213G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCCTGATGGTGTTCGTGGCA	0.652000													37	118					0	0	0.004878	0	0
OR3A2	4995	broad.mit.edu	37	17	3181334	3181334	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:3181334T>C	ENST00000408891.2	-	1	934	c.896A>G	c.(895-897)tAc>tGc	p.Y299C		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	299					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.Y299C(1)		ovary(1)	1						TCTGAGGCTGTAGATAAGAGG	0.478000													53	31					0	0	0.003610	0	0
DCLK1	9201	broad.mit.edu	37	13	36401830	36401830	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr13:36401830A>G	ENST00000255448.4	-	10	1560	c.1349T>C	c.(1348-1350)cTt>cCt	p.L450P	DCLK1_ENST00000379893.1_Missense_Mutation_p.L143P|DCLK1_ENST00000360631.3_Missense_Mutation_p.L450P	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	450	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.L450P(2)|p.L143P(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTCAATCAGAAGAACGATATT	0.378000													34	123					0	0	0.003755	0	0
SLC35E3	55508	broad.mit.edu	37	12	69158527	69158527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:69158527G>T	ENST00000398004.2	+	5	1071	c.799G>T	c.(799-801)Gga>Tga	p.G267*	SLC35E3_ENST00000538043.1_Intron	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	267						integral to membrane		p.G267*(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TACTTTATTCGGAGGATATGT	0.353000													64	44					3.37205e-40	5.57325e-40	0.003610	1	0
CROCCP2	84809	broad.mit.edu	37	1	16953729	16953729	+	RNA	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:16953729C>T	ENST00000412962.1	-	0	532																											CTCACCTCCACCAGCTCCTTG	0.652000													6	65					0	0	0.001168	0	0
MED16	10025	broad.mit.edu	37	19	881704	881704	+	Silent	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:881704T>C	ENST00000312090.6	-	7	1146	c.996A>G	c.(994-996)aaA>aaG	p.K332K	MED16_ENST00000395808.3_Silent_p.K332K|MED16_ENST00000325464.1_Silent_p.K332K|MED16_ENST00000589119.1_Silent_p.K332K|MED16_ENST00000269814.4_Silent_p.K332K|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	332					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	p.K332K(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		TTGTGGGCTGTTTGTCGCCAA	0.572000													62	43					0	0	0.003610	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952893	16952893	+	RNA	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:16952893C>T	ENST00000412962.1	-	0	723																											GAGCAAGGCTCTCGTTGAGGG	0.637000													4	85					0	0	0.000602	0	0
OR4A5	81318	broad.mit.edu	37	11	51412242	51412242	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:51412242A>G	ENST00000319760.6	-	1	206	c.154T>C	c.(154-156)Tcc>Ccc	p.S52P		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S52P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAACCCAAGGAAGGGCTGGCA	0.428000													9	49					0	0	0.006214	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58350457	58350457	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:58350457G>T	ENST00000442832.4	+	2	337	c.103G>T	c.(103-105)Gct>Tct	p.A35S	ZNF587B_ENST00000316462.4_Missense_Mutation_p.A34S|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.A35S	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	35					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.A35S(1)									CCTTAGTGAGGCTCAGAGATG	0.488000													25	20					2.37825e-27	3.65176e-27	0.010771	1	0
DHX57	90957	broad.mit.edu	37	2	39088702	39088702	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:39088702T>A	ENST00000295373.6	-	5	976	c.850A>T	c.(850-852)Aga>Tga	p.R284*	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	284							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.R284*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTGCGGAATCTACTTGTCAGA	0.358000													29	107					0	0	0.010818	0	0
NPHS1	4868	broad.mit.edu	37	19	36340263	36340263	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:36340263G>T	ENST00000378910.5	-	7	714	c.715C>A	c.(715-717)Cct>Act	p.P239T	NPHS1_ENST00000353632.6_Missense_Mutation_p.P239T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	239					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.P239S(1)|p.P239T(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCCTGGAGGGACTGGGGGA	0.632000													14	8					3.32936e-07	3.82796e-07	0.006122	1	0
SUN1	23353	broad.mit.edu	37	7	901072	901072	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:901072G>T	ENST00000456758.2	+	21	2402	c.2402G>T	c.(2401-2403)gGg>gTg	p.G801V	SUN1_ENST00000389574.3_Missense_Mutation_p.G529V|SUN1_ENST00000401592.1_Missense_Mutation_p.G612V|SUN1_ENST00000413514.2_Missense_Mutation_p.G410V|SUN1_ENST00000405266.1_Missense_Mutation_p.G649V|SUN1_ENST00000452783.2_Missense_Mutation_p.G509V|SUN1_ENST00000425407.2_Missense_Mutation_p.G529V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	639	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.G612V(1)|p.G529V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATAAGACCGGGATGGTGGAC	0.502000													44	85					3.05275e-18	4.1756e-18	0.013114	1	0
CHD6	84181	broad.mit.edu	37	20	40116400	40116400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr20:40116400C>A	ENST00000373233.3	-	14	2083	c.1906G>T	c.(1906-1908)Gag>Tag	p.E636*	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	636	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.E636K(1)|p.E635_E636>D*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGAAGAGCTCCTCCACAGAG	0.433000													54	84					6.60958e-23	9.80112e-23	0.003610	1	0
TAS1R2	80834	broad.mit.edu	37	1	19184031	19184031	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:19184031G>T	ENST00000375371.3	-	2	298	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	93					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.L93M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TAGCCCAGCAGCACACCAGGC	0.547000													35	59					1.59361e-14	2.03913e-14	0.006999	1	0
IL1R1	3554	broad.mit.edu	37	2	102789251	102789251	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:102789251A>G	ENST00000410023.1	+	9	1262	c.944A>G	c.(943-945)aAg>aGg	p.K315R	IL1R1_ENST00000409329.1_Missense_Mutation_p.K315R|IL1R1_ENST00000233946.3_Missense_Mutation_p.K315R|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409288.1_Missense_Mutation_p.K315R|IL1R1_ENST00000409929.1_Missense_Mutation_p.K315R|IL1R1_ENST00000424272.1_Missense_Mutation_p.K315R|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	315	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	p.K315R(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TGTTTTGCCAAGAATACACAT	0.323000													16	37					0	0	0.007413	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													4	66					0	0	0.009096	0	0
RBL2	5934	broad.mit.edu	37	16	53503961	53503961	+	Silent	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:53503961A>G	ENST00000262133.6	+	15	2246	c.2109A>G	c.(2107-2109)ctA>ctG	p.L703L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	703	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.L703L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACAGCCCCTAGTCAATGCTG	0.572000													16	60					0	0	0.004007	0	0
CFTR	1080	broad.mit.edu	37	7	117267576	117267576	+	Splice_Site	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:117267576A>T	ENST00000003084.6	+	22	3601	c.3468_splice	c.e22-1	p.M1157_splice	CFTR_ENST00000454343.1_Splice_Site_p.M1096_splice|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1157					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.M1157L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTATTTCAGATGCGATCTGT	0.348000									Cystic Fibrosis				19	40					0	0	0.008871	0	0
TCIRG1	10312	broad.mit.edu	37	11	67818087	67818087	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:67818087G>A	ENST00000265686.3	+	19	2478	c.2370G>A	c.(2368-2370)gtG>gtA	p.V790V	TCIRG1_ENST00000530802.1_Intron|TCIRG1_ENST00000532635.1_Silent_p.V574V	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	790					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	p.V790V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCCTGCTGGTGATGGAGGGAC	0.672000													24	140					0	0	0.006320	0	0
C3orf56	285311	broad.mit.edu	37	3	126915771	126915771	+	Silent	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:126915771G>C	ENST00000398112.1	+	2	483	c.243G>C	c.(241-243)gtG>gtC	p.V81V		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56									p.V81V(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		ACCCGTGGGTGCTCTATGGTG	0.592000													66	20					0	0	0.003610	0	0
THRA	7067	broad.mit.edu	37	17	38245466	38245466	+	Silent	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:38245466G>C	ENST00000450525.2	+	9	1481	c.990G>C	c.(988-990)tcG>tcC	p.S330S	THRA_ENST00000264637.4_Silent_p.S330S|THRA_ENST00000546243.1_Silent_p.S330S|THRA_ENST00000584985.1_Silent_p.S330S|THRA_ENST00000394121.4_Silent_p.S330S	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	330	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.S330S(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CAGACCGCTCGGGCCTGCTGT	0.617000													27	93					0	0	0.005443	0	0
WSCD1	23302	broad.mit.edu	37	17	5993695	5993695	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:5993695G>T	ENST00000574946.1	+	4	987	c.597G>T	c.(595-597)cgG>cgT	p.R199R	WSCD1_ENST00000317744.5_Silent_p.R199R|WSCD1_ENST00000574232.1_Silent_p.R199R|WSCD1_ENST00000573634.1_Silent_p.R83R|WSCD1_ENST00000539421.1_Silent_p.R199R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	199	WSC 1.					integral to membrane	sulfotransferase activity	p.R199R(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCGGGAACCGGCTGCCAGCGG	0.657000													31	21					1.26612e-14	1.6377e-14	0.003271	1	0
CYHR1	50626	broad.mit.edu	37	8	145689869	145689869	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:145689869G>A	ENST00000438911.2	-	2	353	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	CYHR1_ENST00000306145.5_Missense_Mutation_p.P74S|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000403000.2_Missense_Mutation_p.P74S|CYHR1_ENST00000424149.2_Missense_Mutation_p.P74S	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	74						perinuclear region of cytoplasm	zinc ion binding	p.P74S(2)		haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCAGAAGGGGAAGGCCGATG	0.662000													18	139					0	0	0.007413	0	0
OR13H1	347468	broad.mit.edu	37	X	130678554	130678554	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:130678554G>T	ENST00000338616.3	+	1	605	c.507G>T	c.(505-507)ggG>ggT	p.G169G		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G169G(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					ACTTCTGTGGGGCTAATGTCA	0.478000													148	325					1.59857e-72	2.75695e-72	0.003610	1	0
WDPCP	51057	broad.mit.edu	37	2	63631476	63631476	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:63631476G>A	ENST00000409120.1	-	4	4116	c.566C>T	c.(565-567)tCa>tTa	p.S189L	WDPCP_ENST00000272321.7_Missense_Mutation_p.S381L|WDPCP_ENST00000409199.1_Missense_Mutation_p.S189L|WDPCP_ENST00000409562.3_Missense_Mutation_p.S381L|WDPCP_ENST00000398544.3_Missense_Mutation_p.S222L|WDPCP_ENST00000409835.1_5'UTR			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	381					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.S381L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GCTTATTAATGAAGGCAAAAG	0.428000													48	53					0	0	0.003610	0	0
ABCB5	340273	broad.mit.edu	37	7	20762799	20762799	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:20762799G>T	ENST00000404938.2	+	21	3234	c.2582G>T	c.(2581-2583)gGa>gTa	p.G861V	ABCB5_ENST00000258738.6_Missense_Mutation_p.G416V	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	416					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.G861V(1)|p.G416V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCAATGACTGGATTTGCCAAC	0.383000													41	59					1.35964e-18	1.88136e-18	0.003610	1	0
KCNMA1	3778	broad.mit.edu	37	10	78713662	78713662	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:78713662G>T	ENST00000286627.5	-	20	3159	c.2207C>A	c.(2206-2208)cCt>cAt	p.P736H	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P798H|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P797H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P736H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P736H|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P794H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P794H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P736H	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	794					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.P736H(1)|p.P798H(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATCATTGCCAGGAATTAACAA	0.423000													37	75					6.97489e-18	9.45882e-18	0.004878	1	0
WDR19	57728	broad.mit.edu	37	4	39271647	39271647	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:39271647A>C	ENST00000399820.3	+	31	3564	c.3410A>C	c.(3409-3411)aAa>aCa	p.K1137T	WDR19_ENST00000288634.7_Missense_Mutation_p.K977T	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1137					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	p.K1137T(1)		large_intestine(1)	1						GCAGAACTGAAATCCCAGAAG	0.453000													23	52					0	0	0.003330	0	0
MT1G	4495	broad.mit.edu	37	16	56701272	56701272	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:56701272C>A	ENST00000568675.1	-	2	73	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	MT1G_ENST00000379811.3_Missense_Mutation_p.A17S|MT1G_ENST00000569500.1_Intron|MT1G_ENST00000444837.2_Missense_Mutation_p.A16S			P13640	MT1G_HUMAN	metallothionein 1G	17	Beta.						metal ion binding|protein binding	p.A17S(1)|p.A16S(1)		kidney(2)|large_intestine(1)|lung(2)	5						CAGGAGCTGGCGCAGGTGCAG	0.557000													15	60					2.48551e-13	3.08099e-13	0.004990	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117400585	117400585	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:117400585A>G	ENST00000160373.3	-	10	3167	c.3076T>C	c.(3076-3078)Tct>Cct	p.S1026P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1026								p.S1026P(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CATCCATCAGAAGAGATTGCC	0.428000													110	189					0	0	0.003610	0	0
RICTOR	253260	broad.mit.edu	37	5	38975680	38975680	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:38975680G>C	ENST00000357387.3	-	10	878	c.848C>G	c.(847-849)gCc>gGc	p.A283G	RICTOR_ENST00000296782.5_Missense_Mutation_p.A283G	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	283					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.A283G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CATTTTACTGGCTAGAAATCG	0.398000													3	88					0	0	0.000602	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20249235	20249235	+	Silent	SNP	G	G	T	rs146848577	byFrequency	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:20249235G>T	ENST00000375116.3	-	2	111	c.54C>A	c.(52-54)acC>acA	p.T18T		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	18					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.T18T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|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)		CCAGGTTCCCGGTGACCAGAG	0.597000													18	37					1.00905e-13	1.26396e-13	0.008871	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763391	92763391	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:92763391T>C	ENST00000318238.4	-	5	3110	c.1894A>G	c.(1894-1896)Aga>Gga	p.R632G	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R632G|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R632G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	632								p.R632G(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAAACCTTCTTGATGACCGA	0.398000													84	125					0	0	0.003610	0	0
FUT9	10690	broad.mit.edu	37	6	96651512	96651512	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:96651512G>A	ENST00000302103.5	+	3	807	c.481G>A	c.(481-483)Gat>Aat	p.D161N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	161					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.D161N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTACCGCCGTGATTCAGATAT	0.453000													11	53					0	0	0.002450	0	0
PHF20	51230	broad.mit.edu	37	20	34487409	34487409	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr20:34487409A>T	ENST00000374012.3	+	10	1529	c.1400A>T	c.(1399-1401)aAa>aTa	p.K467I	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.K467I(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CGCAAAGCCAAACTGTTGCAC	0.448000													29	49					0	0	0.012213	0	0
NELL1	4745	broad.mit.edu	37	11	21581884	21581884	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:21581884G>C	ENST00000298925.5	+	18	2173	c.2020G>C	c.(2020-2022)Gtg>Ctg	p.V674L	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.V646L|NELL1_ENST00000532434.1_Missense_Mutation_p.V599L|NELL1_ENST00000325319.5_Missense_Mutation_p.V589L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	646	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.V646L(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CAATGGCCAGGTGTGGACCTT	0.552000													34	32					0	0	0.012213	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33863558	33863558	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:33863558C>T	ENST00000307296.3	+	4	823	c.446C>T	c.(445-447)gCt>gTt	p.A149V	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A149V			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	149	BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	p.A149V(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTGAAAATCGCTGCTAAACAT	0.348000													10	41					0	0	0.002450	0	0
ZNF398	57541	broad.mit.edu	37	7	148851053	148851053	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:148851053C>T	ENST00000475153.1	+	2	308	c.41C>T	c.(40-42)tCc>tTc	p.S14F	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.S19F|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	14					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S14F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GAATGGGACTCCGAGTGCCTT	0.498000													57	115					0	0	0.003610	0	0
CXorf38	159013	broad.mit.edu	37	X	40498351	40498351	+	Silent	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:40498351T>C	ENST00000378426.1	-	2	621	c.24A>G	c.(22-24)aaA>aaG	p.K8K	CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378421.1_Silent_p.K8K|CXorf38_ENST00000327877.5_Silent_p.K127K			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	127								p.K127K(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CAGGTCCTTGTTTGTCTGCTA	0.498000													54	42					0	0	0.003610	0	0
ATP2B3	492	broad.mit.edu	37	X	152826336	152826336	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:152826336C>A	ENST00000370186.1	+	17	3326	c.3000C>A	c.(2998-3000)ttC>ttA	p.F1000L	ATP2B3_ENST00000393842.1_Missense_Mutation_p.F1000L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.F1014L|ATP2B3_ENST00000370181.2_Missense_Mutation_p.F1000L|ATP2B3_ENST00000349466.2_Missense_Mutation_p.F1014L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.F1014L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1014					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.F1014F(5)|p.F1014L(3)|p.F1000F(2)|p.F1000L(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCACTTTCGGGATTCAGG	0.572000													30	120					1.30897e-18	1.81653e-18	0.009535	1	0
ATP6V0D2	245972	broad.mit.edu	37	8	87126054	87126054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:87126054G>T	ENST00000285393.3	+	2	389	c.247G>T	c.(247-249)Gag>Tag	p.E83*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	83					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	p.E83*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TGGAGAATTTGAGTATTTCCG	0.418000													102	288					8.86473e-58	1.507e-57	0.003610	1	0
FLNC	2318	broad.mit.edu	37	7	128492942	128492942	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:128492942A>C	ENST00000325888.8	+	37	6326	c.6065A>C	c.(6064-6066)aAg>aCg	p.K2022T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.K1989T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2022					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.K2022T(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AAGAGTGGCAAGCATGTCACC	0.632000													18	101					0	0	0.007413	0	0
SLC30A10	55532	broad.mit.edu	37	1	220088835	220088835	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:220088835T>A	ENST00000366926.3	-	4	1575	c.1414A>T	c.(1414-1416)Aaa>Taa	p.K472*	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Nonsense_Mutation_p.K227*	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	472					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	p.K472*(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TCCTGAGTTTTGTTAAGACTT	0.438000													141	305					0	0	0.003610	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25746877	25746877	+	RNA	SNP	G	G	T	rs147759843	by1000genomes	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:25746877G>T	ENST00000586223.1	+	0	401					NR_033892.1																						TTGGGATTCTGCAGTGAGTCC	0.532000													4	20					0.00909568	0.00964264	0.009096	1	0
MELK	9833	broad.mit.edu	37	9	36633175	36633175	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr9:36633175T>C	ENST00000543751.1	+	9	861	c.716T>C	c.(715-717)gTt>gCt	p.V239A	MELK_ENST00000541717.1_Missense_Mutation_p.V271A|MELK_ENST00000536987.1_Missense_Mutation_p.V140A|MELK_ENST00000536329.1_Missense_Mutation_p.V200A|MELK_ENST00000536860.1_Missense_Mutation_p.V223A|MELK_ENST00000298048.2_Missense_Mutation_p.V271A|MELK_ENST00000538311.1_Missense_Mutation_p.V77A|MELK_ENST00000545008.1_Missense_Mutation_p.V200A	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	271	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.V271A(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AACTATCCTGTTGAGTGGCAA	0.368000													49	36					0	0	0.003610	0	0
PPFIA4	8497	broad.mit.edu	37	1	203012563	203012563	+	Silent	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:203012563G>C	ENST00000367240.2	+	3	800	c.273G>C	c.(271-273)cgG>cgC	p.R91R	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Silent_p.R91R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	93					cell communication	cell surface|cytoplasm	protein binding	p.R238R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCATGTGTCGGGAGCAGCTTC	0.557000													9	22					0	0	0.001368	0	0
OR4C46	119749	broad.mit.edu	37	11	51515941	51515941	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:51515941G>C	ENST00000328188.1	+	1	660	c.660G>C	c.(658-660)ttG>ttC	p.L220F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L220F(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGGTCATCTTGTGCTCCCTAA	0.498000													22	81					0	0	0.002780	0	0
APOB	338	broad.mit.edu	37	2	21232872	21232872	+	Nonsense_Mutation	SNP	C	C	A	rs139857448		TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:21232872C>A	ENST00000233242.1	-	26	6995	c.6868G>T	c.(6868-6870)Gag>Tag	p.E2290*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2290					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E2290*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAATAGCCTCAATGTGTTGT	0.343000													70	91					5.29152e-50	8.90023e-50	0.003610	1	0
PITPNM3	83394	broad.mit.edu	37	17	6386989	6386989	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:6386989C>T	ENST00000262483.8	-	6	522	c.435G>A	c.(433-435)ggG>ggA	p.G145G	ACKR6_ENST00000421306.3_Silent_p.G109G	NM_031220.3	NP_112497.2												p.G145G(1)									AGGACGGGTCCCCGGCACCCG	0.637000													39	22					0	0	0.006999	0	0
POLR3A	11128	broad.mit.edu	37	10	79784817	79784817	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:79784817C>A	ENST00000372371.3	-	4	539	c.402G>T	c.(400-402)ctG>ctT	p.L134L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	134					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.L134L(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAAGGTAGGTCAGGCCGGGCC	0.458000													64	125					7.59065e-32	1.20038e-31	0.003610	1	0
EFNB1	1947	broad.mit.edu	37	X	68059566	68059566	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:68059566C>A	ENST00000204961.4	+	3	1246	c.466C>A	c.(466-468)Cgc>Agc	p.R156S		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	156					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	p.R156S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GTGCCGCACACGCACCATGAA	0.572000													13	44					1.3612e-06	1.54638e-06	0.003163	1	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													4	229					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9076248	9076248	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr19:9076248A>T	ENST00000397910.4	-	3	11401	c.11198T>A	c.(11197-11199)cTg>cAg	p.L3733Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3734	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L3733Q(2)		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						AAGAGTGGACAGAGAATCAAA	0.498000													56	58					0	0	0.003610	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131409	150131409	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:150131409G>A	ENST00000369124.4	+	6	1199	c.921G>A	c.(919-921)cgG>cgA	p.R307R	PLEKHO1_ENST00000025469.6_Silent_p.R273R|PLEKHO1_ENST00000369126.1_Silent_p.R124R	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	307	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane		p.R307R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCTGTCCCGGATCCAGGACC	0.647000													45	86					0	0	0.003610	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129593	248129593	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:248129593G>A	ENST00000366480.3	+	1	1059	c.960G>A	c.(958-960)ttG>ttA	p.L320L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L320L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGAGACTGTTGGGATATTGGA	0.403000													30	85					0	0	0.003271	0	0
IGSF1	3547	broad.mit.edu	37	X	130416668	130416668	+	Silent	SNP	C	C	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:130416668C>G	ENST00000370904.1	-	13	1879	c.969G>C	c.(967-969)gtG>gtC	p.V323V	IGSF1_ENST00000370903.3_Silent_p.V332V|IGSF1_ENST00000370910.1_Silent_p.V323V|IGSF1_ENST00000361420.3_Silent_p.V332V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	332	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.V332V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCATTTGGACCACAGCACTGG	0.493000													21	146					0	0	0.012319	0	0
YIPF6	286451	broad.mit.edu	37	X	67733217	67733217	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:67733217C>A	ENST00000462683.1	+	3	979	c.235C>A	c.(235-237)Cca>Aca	p.P79T	YIPF6_ENST00000374622.2_Missense_Mutation_p.P36T|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	79						endoplasmic reticulum|integral to membrane		p.P79T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						TGTTTTGTACCCAAGGAAAAG	0.358000													9	58					0.000442599	0.000482099	0.006214	1	0
MRPL13	28998	broad.mit.edu	37	8	121457313	121457313	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:121457313G>A	ENST00000306185.3	-	1	313	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	8					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	p.P8S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTCACCTGGGGCGCCCTAGAG	0.567000													31	206					0	0	0.004289	0	0
ASB6	140459	broad.mit.edu	37	9	132404236	132404236	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr9:132404236G>T	ENST00000277458.4	-	1	208	c.43C>A	c.(43-45)Cag>Aag	p.Q15K	ASB6_ENST00000450050.2_5'UTR|ASB6_ENST00000277459.4_Missense_Mutation_p.Q15K	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	15					intracellular signal transduction	cytoplasm		p.Q15K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				ACCAGCGGCTGGTACTCGAAG	0.692000													16	7					2.32416e-17	3.10758e-17	0.002299	1	0
HK1	3098	broad.mit.edu	37	10	71142369	71142369	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr10:71142369C>T	ENST00000448642.2	+	15	1886	c.1497C>T	c.(1495-1497)gcC>gcT	p.A499A	HK1_ENST00000404387.2_Silent_p.A468A|HK1_ENST00000359426.6_Silent_p.A464A|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Silent_p.A452A|HK1_ENST00000298649.3_Silent_p.A463A			P19367	HXK1_HUMAN	hexokinase 1	464	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.A463A(1)|p.A468A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ACCGCTTGGCCGAGCAGCACC	0.637000													18	29					0	0	0.007291	0	0
DDB1	1642	broad.mit.edu	37	11	61099118	61099118	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:61099118T>G	ENST00000301764.7	-	2	504	c.107A>C	c.(106-108)aAc>aCc	p.N36T	DDB1_ENST00000450997.2_Missense_Mutation_p.N36T	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	36	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.N36T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TAATCTCGTGTTTTTGGCAAT	0.517000								Nucleotide excision repair (NER)					23	71					0	0	0.002780	0	0
MYF6	4618	broad.mit.edu	37	12	81101730	81101730	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:81101730C>T	ENST00000228641.3	+	1	454	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	78					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.L78L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CGGCCAGTGTCTGATCTGGGC	0.632000													11	29					0	0	0.001368	0	0
NTRK3	4916	broad.mit.edu	37	15	88524525	88524525	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:88524525G>T	ENST00000317501.3	-	14	1813	c.1652C>A	c.(1651-1653)cCa>cAa	p.P551Q	NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.P551Q|NTRK3_ENST00000360948.2_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P551Q(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			gtgagttgatgggactagatg	0.438000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			22	51					7.45023e-12	9.11647e-12	0.010504	1	0
LRRK2	120892	broad.mit.edu	37	12	40734100	40734100	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:40734100C>T	ENST00000298910.7	+	41	6011	c.5953C>T	c.(5953-5955)Ctc>Ttc	p.L1985F		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1985	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.L1985F(1)|p.L1992F(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGGCAGATACCTCCACTCAGC	0.368000													109	98					0	0	0.003610	0	0
KCNC2	3747	broad.mit.edu	37	12	75444827	75444827	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:75444827A>G	ENST00000549446.1	-	3	1638	c.958T>C	c.(958-960)Ttt>Ctt	p.F320L	KCNC2_ENST00000550433.1_Missense_Mutation_p.F320L|KCNC2_ENST00000350228.2_Missense_Mutation_p.F320L|KCNC2_ENST00000540018.1_Missense_Mutation_p.F320L|KCNC2_ENST00000341669.3_Missense_Mutation_p.F320L|KCNC2_ENST00000298972.1_Missense_Mutation_p.F320L|KCNC2_ENST00000548513.1_Missense_Mutation_p.F320L|KCNC2_ENST00000393288.2_Missense_Mutation_p.F320L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	320					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F320L(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ATGGCCACAAAGTCAATGATA	0.408000													5	117					0	0	0.000602	0	0
HDX	139324	broad.mit.edu	37	X	83695583	83695583	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:83695583T>C	ENST00000297977.5	-	4	1373	c.1262A>G	c.(1261-1263)aAc>aGc	p.N421S	HDX_ENST00000506585.2_Missense_Mutation_p.N363S|HDX_ENST00000373177.2_Missense_Mutation_p.N421S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	421						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N421S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CACAGTAAGGTTTCCTGAAAT	0.353000													6	44					0	0	0.001984	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975902	32975902	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:32975902C>T	ENST00000229829.5	-	2	294	c.219G>A	c.(217-219)gaG>gaA	p.E73E	HLA-DOA_ENST00000450833.2_Silent_p.E43E	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	73	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.E73E(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGTCACCAAACTCAGGCAGAC	0.602000													26	47					0	0	0.005443	0	0
PZP	5858	broad.mit.edu	37	12	9317928	9317928	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:9317928G>T	ENST00000261336.2	-	19	2322	c.2294C>A	c.(2293-2295)cCt>cAt	p.P765H	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.P634H	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.P634H(1)|p.P765H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATGGTGTCAGGGACTGTTAC	0.532000													50	18					7.05995e-25	1.0771e-24	0.003610	1	0
PLXNA2	5362	broad.mit.edu	37	1	208390425	208390425	+	Silent	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:208390425C>A	ENST00000367033.3	-	2	1600	c.843G>T	c.(841-843)gtG>gtT	p.V281V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	281	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.V281V(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCAGAGCCGCACGATGCGTG	0.617000													69	114					3.83446e-41	6.35959e-41	0.003610	1	0
RB1CC1	9821	broad.mit.edu	37	8	53569771	53569771	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:53569771T>A	ENST00000025008.5	-	15	3141	c.2618A>T	c.(2617-2619)gAa>gTa	p.E873V	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E873V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E873V	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	873					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.E873V(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACCTTCATATTCATTTTTTAA	0.284000													20	88					0	0	0.012319	0	0
CSMD3	114788	broad.mit.edu	37	8	113303804	113303804	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr8:113303804A>T	ENST00000297405.5	-	56	9153	c.8909T>A	c.(8908-8910)tTt>tAt	p.F2970Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.F2930Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.F2900Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2801Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2970	Sushi 20.					integral to membrane|plasma membrane		p.F2930*(1)|p.F2970*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAAGATCCAAATAAAAAATA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	58					0	0	0.003080	0	0
FOLH1B	219595	broad.mit.edu	37	11	89402666	89402666	+	RNA	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:89402666T>C	ENST00000532352.1	+	0	903							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.S30S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAAACTTTTCTACACAGTTAA	0.363000													14	47					0	0	0.004990	0	0
CDH12	1010	broad.mit.edu	37	5	21975206	21975206	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:21975206G>C	ENST00000382254.1	-	6	1606	c.520C>G	c.(520-522)Cct>Gct	p.P174A	CDH12_ENST00000504376.2_Missense_Mutation_p.P174A|CDH12_ENST00000522262.1_Missense_Mutation_p.P174A	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	174	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P174A(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCACCCACAGGAGACATTTCT	0.373000										HNSCC(59;0.17)			58	126					0	0	0.003610	0	0
BAP1	8314	broad.mit.edu	37	3	52442492	52442492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:52442492G>A	ENST00000460680.1	-	4	724	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q85*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	85					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q85*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGCAGACCTGGTGGGCAAAG	0.507000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							3	8					0	0	0.009096	0	0
ISPD	729920	broad.mit.edu	37	7	16341066	16341066	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:16341066G>A	ENST00000407010.2	-	5	814	c.815C>T	c.(814-816)gCg>gTg	p.A272V	ISPD_ENST00000399310.3_Missense_Mutation_p.A222V|ISPD_ENST00000479493.1_5'UTR	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	272					isoprenoid biosynthetic process		nucleotidyltransferase activity	p.A272V(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CGATTCAGCCGCATAGAGATC	0.393000										Multiple Myeloma(15;0.18)			9	34					0	0	0.008291	0	0
C6	729	broad.mit.edu	37	5	41160328	41160328	+	Missense_Mutation	SNP	G	G	T	rs146667042		TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr5:41160328G>T	ENST00000263413.3	-	11	1864	c.1600C>A	c.(1600-1602)Ctc>Atc	p.L534I	C6_ENST00000337836.5_Missense_Mutation_p.L534I|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	534	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.L534I(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCCCTGAGAGGGTGGGTCGG	0.478000													13	167					3.27435e-08	3.8389e-08	0.002450	1	0
SLC38A11	151258	broad.mit.edu	37	2	165796039	165796039	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:165796039C>T	ENST00000303735.4	-	4	554	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLC38A11_ENST00000409149.3_Missense_Mutation_p.R97H|SLC38A11_ENST00000409058.1_Missense_Mutation_p.R128H|SLC38A11_ENST00000409662.1_Missense_Mutation_p.R97H	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	97					amino acid transport|sodium ion transport	integral to membrane		p.R75H(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AATGAAGTGGCGACCAATAAA	0.333000													21	34					0	0	0.003330	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	24					0	0	0.004672	0	0
RASA4	10156	broad.mit.edu	37	7	102236538	102236538	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:102236538C>T	ENST00000262940.7	-	9	843	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	RASA4_ENST00000449970.2_Missense_Mutation_p.R259Q|RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000461209.1_Missense_Mutation_p.R187Q|RASA4_ENST00000462172.1_Missense_Mutation_p.R187Q	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	259					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	metal ion binding|Ras GTPase activator activity	p.R259Q(2)		lung(1)|prostate(1)|urinary_tract(1)	3						CGTCTCGTCCCGCAGCCGCAC	0.672000													9	6					0	0	0.001855	0	0
WHSC1	7468	broad.mit.edu	37	4	1957494	1957494	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:1957494G>T	ENST00000382895.3	+	16	3024	c.2593G>T	c.(2593-2595)Ggc>Tgc	p.G865C	WHSC1_ENST00000382892.2_Missense_Mutation_p.G865C|WHSC1_ENST00000508803.1_Missense_Mutation_p.G865C|WHSC1_ENST00000382888.3_Missense_Mutation_p.G213C|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.G865C	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	865					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.G865C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GATGCCTGACGGCAGCTGGTT	0.582000			T	IGH@	MM								9	23					4.68919e-08	5.48416e-08	0.008291	1	0
TENM3	55714	broad.mit.edu	37	4	183696202	183696202	+	Silent	SNP	A	A	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr4:183696202A>C	ENST00000511685.1	+	24	5323	c.5200A>C	c.(5200-5202)Aga>Cga	p.R1734R	TENM3_ENST00000406950.2_Silent_p.R1734R					teneurin transmembrane protein 3									p.R1734R(1)									GGTTGCCAAAAGAAACATGAC	0.527000													14	47					0	0	0.004007	0	0
MARCH10	162333	broad.mit.edu	37	17	60821816	60821816	+	Silent	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:60821816C>T	ENST00000544856.2	-	6	831	c.453G>A	c.(451-453)tcG>tcA	p.S151S	MARCH10_ENST00000311269.5_Silent_p.S152S|MARCH10_ENST00000456609.2_Silent_p.S152S|MARCH10_ENST00000583600.1_Silent_p.S190S			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	152							ligase activity|zinc ion binding	p.S152S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCGGGCTGTGCGATTCTGGGC	0.522000													5	176					0	0	0.001984	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133670	91133670	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:91133670G>T	ENST00000373094.1	+	2	3276	c.2431G>T	c.(2431-2433)Gtc>Ttc	p.V811F	PCDH11X_ENST00000298274.8_Missense_Mutation_p.V811F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V811F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V811F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V811F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V811F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V811F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V811F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V811F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	811					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.V811F(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TAGTGACTATGTCAAGATCCT	0.463000													24	151					1.88708e-17	2.53029e-17	0.008361	1	0
CCER1	196477	broad.mit.edu	37	12	91348421	91348421	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:91348421G>T	ENST00000358859.2	-	1	532	c.99C>A	c.(97-99)agC>agA	p.S33R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.S33R(1)									ACGACCAGGAGCTCAAGGAGG	0.657000													4	4					1.23904e-05	1.38447e-05	0.000602	1	0
PNPLA1	285848	broad.mit.edu	37	6	36260888	36260888	+	Silent	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:36260888G>A	ENST00000394571.2	+	3	489	c.489G>A	c.(487-489)ccG>ccA	p.P163P	PNPLA1_ENST00000312917.5_Silent_p.P68P|PNPLA1_ENST00000388715.3_Silent_p.P68P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	163	Patatin.				lipid catabolic process		hydrolase activity	p.P163P(1)|p.P68P(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCATCCCCCCGACTTACCGCG	0.657000													66	99					0	0	0.003610	0	0
KPNA1	3836	broad.mit.edu	37	3	122170440	122170440	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:122170440C>T	ENST00000344337.6	-	8	870	c.694G>A	c.(694-696)Gca>Aca	p.A232T	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	232	NLS binding site (major) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	p.A232T(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		GCCCATACTGCATTCCGGGTC	0.403000													72	43					0	0	0.003610	0	0
SKIL	6498	broad.mit.edu	37	3	170108088	170108088	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:170108088A>G	ENST00000458537.3	+	4	2216	c.1507A>G	c.(1507-1509)Aaa>Gaa	p.K503E	SKIL_ENST00000259119.4_Missense_Mutation_p.K503E|SKIL_ENST00000426052.2_Missense_Mutation_p.K483E|SKIL_ENST00000413427.2_Missense_Mutation_p.K457E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	503					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.K503E(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGACATAAACAAAGTGGGAAT	0.383000													85	43					0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10951294	10951294	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr21:10951294C>A	ENST00000298232.7	-	9	731	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.D102Y|TPTE_ENST00000361285.4_Missense_Mutation_p.D140Y	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	140					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(1)|p.M139_D140>IY(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAGAACATCCATGAGAAAA	0.348000													35	80					3.62531e-18	4.94454e-18	0.004289	1	0
KRAS	3845	broad.mit.edu	37	12	25378562	25378562	+	Missense_Mutation	SNP	C	C	G	rs121913527		TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:25378562C>G	ENST00000311936.3	-	4	627	c.436G>C	c.(436-438)Gca>Cca	p.A146P	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.A146P	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	146			A -> T (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.A146T(75)|p.A146P(7)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGTCTTTGCTGATGTTTCA	0.323000	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			89	19					0	0	0.003610	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869629	151869629	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:151869629G>A	ENST00000329342.5	+	3	544	c.319G>A	c.(319-321)Gca>Aca	p.A107T		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	107							protein binding	p.A107T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTTCCAAGCAGCACTCAG	0.542000													84	156					0	0	0.003610	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457495	42457495	+	Missense_Mutation	SNP	G	G	A	rs143967758	byFrequency	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:42457495G>A	ENST00000262407.5	-	17	1658	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R543W	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	543					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.R543W(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGCTTCTGCCGGTCCAGCTGC	0.682000													14	22					0	0	0.012319	0	0
MMP19	4327	broad.mit.edu	37	12	56231060	56231060	+	Silent	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:56231060G>T	ENST00000394182.1	-	4	428	c.429C>A	c.(427-429)ccC>ccA	p.P143P	MMP19_ENST00000322569.4_Silent_p.P429P|MMP19_ENST00000548629.1_Silent_p.P406P|MMP19_ENST00000409200.3_3'UTR			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	429					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TAGCAGCCGAGGGCTGGTTTG	0.557000													174	50					4.83926e-127	8.49995e-127	0.003610	1	0
PGM3	5238	broad.mit.edu	37	6	83898345	83898345	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:83898345C>T	ENST00000513973.1	-	3	493	c.377G>A	c.(376-378)gGt>gAt	p.G126D	PGM3_ENST00000512866.1_Missense_Mutation_p.G126D|PGM3_ENST00000506587.1_Missense_Mutation_p.G154D|PGM3_ENST00000283977.4_Missense_Mutation_p.G45D	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	126					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	p.G126D(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GGTATCTCTACCAATAACTAC	0.363000													17	97					0	0	0.007413	0	0
CLN6	54982	broad.mit.edu	37	15	68500662	68500662	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:68500662T>C	ENST00000249806.5	-	7	909	c.752A>G	c.(751-753)aAg>aGg	p.K251R	CLN6_ENST00000566347.1_Missense_Mutation_p.K188R|CLN6_ENST00000565471.1_Missense_Mutation_p.K98R|CLN6_ENST00000538696.1_Missense_Mutation_p.K283R|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000418702.2_Missense_Mutation_p.K122R	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	251					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	p.K251R(1)		large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAAGAGGCGCTTGCGCTTCTG	0.602000													34	162					0	0	0.003755	0	0
SLC37A2	219855	broad.mit.edu	37	11	124946670	124946670	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:124946670T>A	ENST00000403796.2	+	2	378	c.77T>A	c.(76-78)cTg>cAg	p.L26Q	SLC37A2_ENST00000407458.1_Missense_Mutation_p.L26Q|SLC37A2_ENST00000308074.4_Missense_Mutation_p.L26Q|SLC37A2_ENST00000298280.5_Missense_Mutation_p.L26Q	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	26					carbohydrate transport|transmembrane transport	integral to membrane		p.L26Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GGCCTCATCCTGCTGCTGACC	0.582000													18	66					0	0	0.003330	0	0
F8	2157	broad.mit.edu	37	X	154158632	154158632	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:154158632G>T	ENST00000360256.4	-	14	3633	c.3433C>A	c.(3433-3435)Cca>Aca	p.P1145T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1145	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.P1145T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATTGCTTTGGACTGGGGCCT	0.408000													42	180					1.8453e-21	2.6617e-21	0.010771	1	0
PDE4B	5142	broad.mit.edu	37	1	66798085	66798085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:66798085delG	ENST00000371045.5	+	1	399	c.13delG	c.(13-15)ggfs	p.G6fs	PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000423207.2_Intron	NM_001037339.1	NP_001032416.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GAAGGAGCACGGGGGCACCTT	0.567													13	57	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152280188	152280188	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr1:152280188delG	ENST00000368799.1	-	3	7209	c.7174delC	c.(7174-7176)atfs	p.H2392fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2392	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCTGATGGGGCCCAGCC	0.582									Ichthyosis				78	180	---	---	---	---					
SUCLG1	8802	broad.mit.edu	37	2	84668395	84668395	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:84668395delC	ENST00000393868.2	-	4	717	c.507delG	c.(505-507)ggfs	p.G169fs		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	169					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GGCAGTTGGGCCCAATTAGCC	0.458													45	112	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179584914	179584914	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr2:179584914delC	ENST00000589042.1	-	81	23679	c.23455delG	c.(23455-23457)agfs	p.E7819fs	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.E7502fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.E6575fs|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7502	Ig-like 60.						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)			TGGAAGCCCTCCACTATGGCC	0.428													15	61	---	---	---	---					
LRIG1	26018	broad.mit.edu	37	3	66550812	66550812	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:66550812delC	ENST00000383703.3	-	1	623	c.20delG	c.(19-21)gafs	p.G8fs	LRIG1_ENST00000273261.3_Frame_Shift_Del_p.G8fs			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	8						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCCGAGCCCTCCCCGGACCGG	0.781													7	2	---	---	---	---					
FOXP1	27086	broad.mit.edu	37	3	71090529	71090529	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:71090529delT	ENST00000318789.4	-	11	1344	c.819delA	c.(817-819)ccfs	p.P273fs	FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.P273fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.P273fs|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.P275fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.P197fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.P273fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.P273fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	273					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TAGAGGCATGTGGGTTCATTA	0.498			T	PAX5	ALL								79	50	---	---	---	---					
WDR49	151790	broad.mit.edu	37	3	167293709	167293710	+	In_Frame_Ins	INS	-	-	TTCAAGATA			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:167293709_167293710insTTCAAGATA	ENST00000308378.3	-	4	787_788	c.482_483insTATCTTGAA	c.(481-483)aca>aTATCTTGAAca	p.160_161insIS*	WDR49_ENST00000479765.1_In_Frame_Ins_p.501_502insIS*|WDR49_ENST00000453925.2_In_Frame_Ins_p.213_214insIS*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	160										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCATTACCTGCTTCAAGATAGA	0.366													49	143	---	---	---	---					
RP11-644C3.1	0	broad.mit.edu	37	3	176487539	176487542	+	RNA	DEL	AGGA	AGGA	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr3:176487539_176487542delAGGA	ENST00000428516.1	-	0	198																											ggagggagggaggaaggaaggaag	0.485													5	1	---	---	---	---					
LRFN2	57497	broad.mit.edu	37	6	40360309	40360309	+	Frame_Shift_Del	DEL	G	G	-	rs147506870	byFrequency	TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:40360309delG	ENST00000338305.6	-	3	2285	c.1743delC	c.(1741-1743)ggfs	p.G581fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	581						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGGCTGGGCGCCGTTGGTCT	0.677													10	20	---	---	---	---					
LPAL2	80350	broad.mit.edu	37	6	160906749	160906783	+	RNA	DEL	GACAAGTAGAGTCCTGAGCAGTTATCTCAAAGCAG	GACAAGTAGAGTCCTGAGCAGTTATCTCAAAGCAG	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr6:160906749_160906783delGACAAGTAGAGTCCTGAGCAGTTATCTCAAAGCAG	ENST00000335388.5	-	0	850					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CTGCATCTGAGACAAGTAGAGTCCTGAGCAGTTATCTCAAAGCAGGAGTCTTCTA	0.438													18	68	---	---	---	---					
NYAP1	222950	broad.mit.edu	37	7	100087052	100087052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:100087052delG	ENST00000423930.1	+	4	1867	c.1708delG	c.(1708-1710)ggfs	p.G571fs	NYAP1_ENST00000300179.2_Frame_Shift_Del_p.G571fs|NYAP1_ENST00000454988.1_Frame_Shift_Del_p.G514fs			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	571																	CCTCAAGGCTGGGGGGGTGCT	0.642													32	74	---	---	---	---					
GRM8	2918	broad.mit.edu	37	7	126086394	126086394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:126086394delG	ENST00000339582.2	-	10	3271	c.2463delC	c.(2461-2463)tcfs	p.S821fs	GRM8_ENST00000444921.2_Frame_Shift_Del_p.S821fs|GRM8_ENST00000358373.3_Frame_Shift_Del_p.S821fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	821					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTAAACTCATGGAGACAGTAA	0.363										HNSCC(24;0.065)			43	84	---	---	---	---					
LOC101928451	101928451	broad.mit.edu	37	7	128210234	128210235	+	RNA	INS	-	-	TT	rs57917869		TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr7:128210234_128210235insTT	ENST00000605862.1	+	0	189																											agttttagttcttTTTTTTTTT	0.441													3	5	---	---	---	---					
WTAPP1	100288077	broad.mit.edu	37	11	102622949	102622954	+	RNA	DEL	CAACAA	CAACAA	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr11:102622949_102622954delCAACAA	ENST00000416164.1	-	0	66																											TACTGCCTGTCAACAAAAAATCGGCC	0.461													4	2	---	---	---	---					
CMAS	55907	broad.mit.edu	37	12	22211589	22211590	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:22211589_22211590insT	ENST00000229329.2	+	4	778_779	c.648_649insT	c.(646-651)tctttafs	p.L217fs		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	217					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AAAATGGCTCATTTTATTTTGC	0.381													7	289	---	---	---	---					
PRDM4	11108	broad.mit.edu	37	12	108147700	108147700	+	Splice_Site	DEL	C	C	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr12:108147700delC	ENST00000228437.5	-	4	791		c.e4+1		RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4						cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GTAACACTTACCAGGTAGAAT	0.418													28	32	---	---	---	---					
LNX2	222484	broad.mit.edu	37	13	28143266	28143267	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr13:28143266_28143267insGC	ENST00000316334.3	-	3	683_684	c.554_555insGC	c.(553-555)ggtfs	p.G185fs		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	185							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCACAGGCACTGCGCCTGTCCC	0.535													144	270	---	---	---	---					
G2E3	55632	broad.mit.edu	37	14	31074781	31074782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:31074781_31074782insT	ENST00000206595.6	+	11	1235_1236	c.1081_1082insT	c.(1081-1083)taafs	p.*361fs	G2E3_ENST00000438909.2_Frame_Shift_Ins_p.*315fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.*391fs|G2E3_ENST00000544007.1_Intron	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	361					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TAAAAAAAAAACTAAAAGATTG	0.277													8	14	---	---	---	---					
SLC35F4	341880	broad.mit.edu	37	14	58060834	58060835	+	In_Frame_Ins	INS	-	-	GGA			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:58060834_58060835insGGA	ENST00000556826.1	-	2	347_348	c.111_112insTCC	c.(109-114)tcgatc>tcTCCgatc	p.37_38SI>SPI	SLC35F4_ENST00000557430.1_5'UTR|SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000339762.6_In_Frame_Ins_p.73_74SI>SPI	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTGATGATCTGGAGGTACCTG	0.436													7	37	---	---	---	---					
BEGAIN	57596	broad.mit.edu	37	14	101010278	101010278	+	Frame_Shift_Del	DEL	G	G	-	rs140676218		TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:101010278delG	ENST00000556751.1	-	3	3480	c.76delC	c.(76-78)gtfs	p.R26fs	BEGAIN_ENST00000355173.2_Frame_Shift_Del_p.R90fs|BEGAIN_ENST00000443071.2_Frame_Shift_Del_p.R90fs			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	90						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CTCAGCGCACGCTTCTCCTCC	0.617													12	19	---	---	---	---					
BRF1	2972	broad.mit.edu	37	14	105692428	105692429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr14:105692428_105692429insA	ENST00000546474.1	-	10	15984_15985	c.1025_1026insT	c.(1024-1026)gctfs	p.A342fs	BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Frame_Shift_Ins_p.A315fs|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Frame_Shift_Ins_p.A227fs|BRF1_ENST00000327359.3_Frame_Shift_Ins_p.A227fs|BRF1_ENST00000392557.4_Frame_Shift_Ins_p.A138fs|BRF1_ENST00000446501.2_Frame_Shift_Ins_p.A104fs	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	342					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGCTGGCCAGGCCCCCCTTGGC	0.475													58	87	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81737	81737	+	RNA	DEL	G	G	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:81737delG	ENST00000568710.1	-	0	434																											CCAACATCTTGGGCAGGCCAG	0.527													9	103	---	---	---	---					
PSKH1	5681	broad.mit.edu	37	16	67961404	67961405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:67961404_67961405insG	ENST00000291041.5	+	3	1304_1305	c.1134_1135insG	c.(1132-1137)cgcctcfs	p.L379fs		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	379						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TCCTTAAACGTGCCTCCTCGCG	0.624													40	53	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70871619	70871619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr16:70871619delT	ENST00000393567.2	-	77	13366	c.13216delA	c.(13216-13218)tcfs	p.I4406fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4406										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCCCTTTGATTTCGACTGTT	0.453													19	93	---	---	---	---					
UNC13D	201294	broad.mit.edu	37	17	73837068	73837071	+	Frame_Shift_Del	DEL	ATGT	ATGT	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chr17:73837068_73837071delATGT	ENST00000207549.4	-	7	960_963	c.581_584delACAT	c.(580-585)gcfs	p.DI194fs	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Frame_Shift_Del_p.DI194fs	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	194	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCATTGGTGATGTCCTCAAACTC	0.593									Familial Hemophagocytic Lymphohistiocytosis				62	376	---	---	---	---					
MXRA5	25878	broad.mit.edu	37	X	3242878	3242878	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:3242878delG	ENST00000217939.6	-	5	1002	c.848delC	c.(847-849)ctfs	p.P283fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	283						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGTCTCAGAGGGGACTCTAT	0.493													61	117	---	---	---	---					
HEPH	9843	broad.mit.edu	37	X	65474875	65474875	+	Splice_Site	DEL	A	A	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:65474875delA	ENST00000519389.1	+	16	2904		c.e16-1		HEPH_ENST00000374727.3_Splice_Site|HEPH_ENST00000343002.2_Splice_Site|HEPH_ENST00000336279.5_Splice_Site|HEPH_ENST00000441993.2_Splice_Site|HEPH_ENST00000419594.1_Splice_Site			Q9BQS7	HEPH_HUMAN	hephaestin						cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTACACTTCTAGGTGAGGTGG	0.502													12	72	---	---	---	---					
TCEAL4	79921	broad.mit.edu	37	X	102842138	102842138	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:102842138delT	ENST00000472745.1	+	3	1087	c.535delT	c.(535-537)ttfs	p.F179fs	TCEAL4_ENST00000472484.1_Frame_Shift_Del_p.F179fs|TCEAL4_ENST00000468024.1_Frame_Shift_Del_p.F179fs|TCEAL4_ENST00000372629.4_Frame_Shift_Del_p.F322fs|TCEAL4_ENST00000494801.1_Frame_Shift_Del_p.F179fs|TCEAL4_ENST00000415568.2_Frame_Shift_Del_p.F179fs			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						ATTGGGGGCGTTTTTGTGGAT	0.448													15	628	---	---	---	---					
TENM1	10178	broad.mit.edu	37	X	123805609	123805609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4670-01A-01D-1265-08	TCGA-73-4670-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aea0652-17ae-4dfa-9358-206d4f24f02f	a5b33638-194b-4a5e-9eca-5c110202dc06	g.chrX:123805609delC	ENST00000422452.2	-	6	1155	c.1092delG	c.(1090-1092)ggfs	p.G364fs	TENM1_ENST00000371130.3_Frame_Shift_Del_p.G364fs	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCCCCCTGTTCCCTTTGCTAA	0.433													62	313	---	---	---	---					
