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
ARHGEF10L	55160	broad.mit.edu	37	1	17983154	17983154	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:17983154G>A	ENST00000361221.3	+	25	2970	c.2811G>A	c.(2809-2811)ctG>ctA	p.L937L	ARHGEF10L_ENST00000375408.3_Silent_p.L710L|ARHGEF10L_ENST00000167825.4_Silent_p.L640L|ARHGEF10L_ENST00000434513.1_Silent_p.L932L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.L898L|ARHGEF10L_ENST00000375415.1_Silent_p.L898L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	937					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.L937L(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCTTCCACCTGCTCGCTGGCC	0.662000													20	94					0	0	0.001882	0	0
CACNA1G	8913	broad.mit.edu	37	17	48680470	48680470	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:48680470A>G	ENST00000352832.5	+	20	4382	c.4010A>G	c.(4009-4011)gAc>gGc	p.D1337G	CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1360G|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1337G|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1360G|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1337G|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1360G|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1337G|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1337G|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1337G|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1360G|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1337G|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1360G|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1337G	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	1360					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.D1360G(3)|p.D1337G(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)	TCCGTCATCGACATTCTGGTG	0.652000													8	134					0	0	0.006214	0	0
IGHG2	3501	broad.mit.edu	37	14	106110951	106110951	+	RNA	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:106110951G>T	ENST00000390545.2	-	0	176																											AGAGTCCTGAGGACTGTAGGA	0.617000													10	99					1.58986e-06	1.93682e-06	0.008291	1	0
PAH	5053	broad.mit.edu	37	12	103238194	103238194	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:103238194C>A	ENST00000553106.1	-	10	1457	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L	PAH_ENST00000307000.2_Missense_Mutation_p.V324L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	329					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.V329L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCAAACTCCACAGTAAACCAG	0.438000													10	34					0.000442599	0.000487966	0.006214	1	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													3	43					0	0	0.001168	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763929	14763929	+	Silent	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr18:14763929A>G	ENST00000358984.4	+	7	1245	c.1065A>G	c.(1063-1065)aaA>aaG	p.K355K	ANKRD30B_ENST00000447268.2_Silent_p.K355K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	355										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GGCCAGCAAAAGAAAGATCTA	0.373000													3	15					0	0	0.004672	0	0
TRIM60	166655	broad.mit.edu	37	4	165961743	165961743	+	Silent	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:165961743A>G	ENST00000512596.1	+	3	735	c.519A>G	c.(517-519)aaA>aaG	p.K173K	TRIM60_ENST00000508504.1_Silent_p.K173K|TRIM60_ENST00000341062.5_Silent_p.K173K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	173						intracellular	zinc ion binding	p.K173K(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TGGAGCTGAAAAAGAAGGTAG	0.353000													11	75					0	0	0.001855	0	0
PLXNA4	91584	broad.mit.edu	37	7	131908295	131908295	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:131908295C>A	ENST00000359827.3	-	9	3050	c.2088G>T	c.(2086-2088)aaG>aaT	p.K696N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.K696N			Q9HCM2	PLXA4_HUMAN	plexin A4	696	PSI 2.					integral to membrane|intracellular|plasma membrane		p.K696N(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTCGGGCAGCTTCACTCGGC	0.567000													8	35					0.000157383	0.000176606	0.003080	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790344	133790344	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:133790344C>A	ENST00000321016.8	-	18	3506	c.3276G>T	c.(3274-3276)ccG>ccT	p.P1092P	IGSF9B_ENST00000533871.2_Silent_p.P1092P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1092	Pro-rich.					integral to membrane|plasma membrane		p.P1092P(1)|p.P548P(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACAGGATGCCCGGGTAGGCCG	0.721000													20	46					1.2644e-06	1.55338e-06	0.010504	1	0
TAS2R19	259294	broad.mit.edu	37	12	11174543	11174543	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:11174543G>A	ENST00000390673.2	-	1	676	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	210					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R210W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTATGGAGCCGCATCTTCTTG	0.403000													30	102					0	0	0.002445	0	0
EDARADD	128178	broad.mit.edu	37	1	236645937	236645937	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:236645937C>T	ENST00000359362.5	+	6	820	c.606C>T	c.(604-606)tcC>tcT	p.S202S	EDARADD_ENST00000334232.4_Silent_p.S212S	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	212	Death.				cell differentiation|signal transduction	cytoplasm		p.S212S(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAGACCCCTCCAGGCACTTCT	0.542000													41	205					0	0	0.003610	0	0
MMP16	4325	broad.mit.edu	37	8	89053848	89053848	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:89053848C>A	ENST00000286614.6	-	10	1946	c.1665G>T	c.(1663-1665)ctG>ctT	p.L555L		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	555					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.L555L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTGTGTTGTCCAGTTTGATGA	0.453000													45	71					1.00953e-15	1.58435e-15	0.003214	1	0
NRG3	10718	broad.mit.edu	37	10	84498364	84498364	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:84498364G>A	ENST00000372142.2	+	4	596	c.322G>A	c.(322-324)Gat>Aat	p.D108N	NRG3_ENST00000556918.1_Missense_Mutation_p.D159N|NRG3_ENST00000404547.1_Missense_Mutation_p.D329N|NRG3_ENST00000372141.2_Missense_Mutation_p.D329N|NRG3_ENST00000404576.2_Missense_Mutation_p.D133N	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	329	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.D108N(1)|p.D329N(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGTCCGTTGTGATCAATTTCT	0.393000													31	139					0	0	0.002836	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239874	6239874	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:6239874T>A	ENST00000265978.4	-	8	1749	c.1391A>T	c.(1390-1392)cAc>cTc	p.H464L	FAM160A2_ENST00000524416.1_Missense_Mutation_p.H464L|FAM160A2_ENST00000449352.2_Missense_Mutation_p.H464L	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	464					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.H464L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGGGGGCGTGGTGCCGACA	0.592000													52	278					0	0	0.003610	0	0
NDEL1	81565	broad.mit.edu	37	17	8350154	8350154	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:8350154A>G	ENST00000334527.7	+	4	520	c.323A>G	c.(322-324)aAg>aGg	p.K108R	NDEL1_ENST00000402554.3_Missense_Mutation_p.K108R|NDEL1_ENST00000380025.4_Missense_Mutation_p.K108R|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.K108R	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	108	Interaction with KATNB1 (By similarity).|Self-association (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		p.K108R(2)		large_intestine(6)|lung(4)|skin(3)	13						CGGGCCATTAAGGAGCAGTTG	0.453000													21	53					0	0	0.002299	0	0
MYO1G	64005	broad.mit.edu	37	7	45005450	45005450	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:45005450C>A	ENST00000258787.7	-	17	2303	c.2167G>T	c.(2167-2169)Ggc>Tgc	p.G723C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	723	IQ.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.G723C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GCCAAGGTGCCCCGCCATGCC	0.607000													11	26					8.10497e-08	1.04511e-07	0.010504	1	0
POLR1A	25885	broad.mit.edu	37	2	86271325	86271325	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:86271325C>T	ENST00000263857.6	-	22	3450	c.3072G>A	c.(3070-3072)ctG>ctA	p.L1024L	POLR1A_ENST00000409681.1_Silent_p.L1024L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1024					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.L1024L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGGGGATGTCCAGGCCATCCT	0.602000													18	99					0	0	0.007413	0	0
PDE6C	5146	broad.mit.edu	37	10	95380423	95380423	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:95380423C>A	ENST00000371447.3	+	2	653	c.515C>A	c.(514-516)aCt>aAt	p.T172N		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	172	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.T172N(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GACAAGCAAACTGGGTATGTC	0.433000													22	134					7.45023e-12	1.07371e-11	0.010504	1	0
TRPS1	7227	broad.mit.edu	37	8	116427219	116427219	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:116427219C>G	ENST00000395715.3	-	7	3494	c.2917G>C	c.(2917-2919)Gct>Cct	p.A973P	TRPS1_ENST00000220888.5_Missense_Mutation_p.A960P|TRPS1_ENST00000519076.1_Missense_Mutation_p.A714P|TRPS1_ENST00000520276.1_Missense_Mutation_p.A964P	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	960					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A960P(1)|p.A973P(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCTGCTCAGCCTGAAGTGCC	0.478000									Langer-Giedion syndrome				53	104					0	0	0.003610	0	0
CACNA1S	779	broad.mit.edu	37	1	201043678	201043678	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:201043678G>T	ENST00000362061.3	-	14	2245	c.2019C>A	c.(2017-2019)gcC>gcA	p.A673A	CACNA1S_ENST00000367338.3_Silent_p.A673A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	673					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.A673A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGCCTTCTGGGCAGAAGTCA	0.567000													8	47					3.09899e-07	3.92716e-07	0.004482	1	0
OR8S1	341568	broad.mit.edu	37	12	48920047	48920047	+	Silent	SNP	C	C	T	rs139022158	byFrequency	TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:48920047C>T	ENST00000310194.1	+	1	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGGGAAACTTCCTTTTGGTCT	0.537000													39	135					0	0	0.004878	0	0
CCR2	729230	broad.mit.edu	37	3	46400068	46400068	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:46400068C>A	ENST00000445132.2	+	2	1545	c.1050C>A	c.(1048-1050)tcC>tcA	p.S350S	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000292301.4_Intron|CCR2_ENST00000400888.2_Intron	NM_001123396.1	NP_001116868.1	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	0					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.S350S(1)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ACACGCCTTCCACTGGGGAGC	0.438000													7	10					8.12818e-05	9.1911e-05	0.001984	1	0
BRF1	2972	broad.mit.edu	37	14	105692627	105692627	+	Splice_Site	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:105692627G>A	ENST00000546474.1	-	9	15875	c.915_splice	c.e9-1	p.L306_splice	BRF1_ENST00000379937.2_Splice_Site_p.L279_splice|BRF1_ENST00000392557.4_Splice_Site_p.L102_splice|BRF1_ENST00000440513.3_Splice_Site_p.L191_splice|BRF1_ENST00000446501.2_Splice_Site_p.L68_splice|BRF1_ENST00000327359.3_Splice_Site_p.L191_splice|BRF1_ENST00000379932.4_Splice_Site_p.L102_splice|BRF1_ENST00000551787.1_Splice_Site_p.L102_splice	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	306					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	p.L191F(1)|p.L306F(1)		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)		ACTTGTTCAAGCTGAAAGGGA	0.527000													74	177					0	0	0.003610	0	0
CDAN1	146059	broad.mit.edu	37	15	43027805	43027805	+	Silent	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr15:43027805C>G	ENST00000356231.3	-	4	869	c.846G>C	c.(844-846)cgG>cgC	p.R282R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	282						integral to membrane	protein binding	p.R282R(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGCTTCCTGTCCGGCTGGGGA	0.577000													19	68					0	0	0.003954	0	0
AKNA	80709	broad.mit.edu	37	9	117139109	117139109	+	Silent	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:117139109C>G	ENST00000307564.4	-	3	1139	c.978G>C	c.(976-978)cgG>cgC	p.R326R	AKNA_ENST00000374088.3_Silent_p.R326R|AKNA_ENST00000374075.5_Silent_p.R245R|AKNA_ENST00000312033.3_Silent_p.R326R|AKNA_ENST00000223791.3_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R326R(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCCTGCCCTGCCGCGTTGGCC	0.622000													7	28					0	0	0.003080	0	0
SGCD	6444	broad.mit.edu	37	5	155935668	155935668	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:155935668G>T	ENST00000435422.3	+	3	734	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	SGCD_ENST00000337851.4_Nonsense_Mutation_p.E84*|SGCD_ENST00000517913.1_Nonsense_Mutation_p.E84*|SGCD_ENST00000447401.1_Nonsense_Mutation_p.E84*	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	83					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.E84*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGAGACTCTGAATTCTTACA	0.413000													7	19					3.86212e-05	4.38968e-05	0.008291	1	0
FRAS1	80144	broad.mit.edu	37	4	79343066	79343066	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:79343066G>A	ENST00000264895.6	+	34	5030	c.4590G>A	c.(4588-4590)acG>acA	p.T1530T	FRAS1_ENST00000325942.6_Silent_p.T1530T	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1529					cell communication	integral to membrane|plasma membrane	metal ion binding	p.T1530T(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGTATTTCACGCAAGAGGATA	0.552000													37	243					0	0	0.003610	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552501	21552501	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:21552501G>T	ENST00000281523.2	-	4	809	c.291C>A	c.(289-291)gcC>gcA	p.A97A	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	97						nucleus	nucleic acid binding|zinc ion binding	p.A97A(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTGTAGTGGGCCGCAGCCT	0.448000													12	56					9.31168e-06	1.09798e-05	0.001855	1	0
CHL1	10752	broad.mit.edu	37	3	383704	383704	+	Silent	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:383704T>A	ENST00000256509.2	+	7	1260	c.618T>A	c.(616-618)gcT>gcA	p.A206A	CHL1_ENST00000397491.2_Silent_p.A206A	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	206	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.A206A(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTTGCTTTGCTGCATTTCCAA	0.373000													5	27					0	0	0.001168	0	0
TMEM69	51249	broad.mit.edu	37	1	46159007	46159007	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:46159007G>C	ENST00000372025.4	+	3	1331	c.174G>C	c.(172-174)atG>atC	p.M58I	TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	58						integral to membrane		p.M58I(1)		kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CAGCGTATATGAGCAAGACAC	0.463000													128	578					0	0	0.003610	0	0
POLD2	5425	broad.mit.edu	37	7	44156543	44156543	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:44156543A>C	ENST00000406581.2	-	7	1302	c.653T>G	c.(652-654)cTg>cGg	p.L218R	POLD2_ENST00000452185.1_Missense_Mutation_p.L218R|POLD2_ENST00000223361.3_Missense_Mutation_p.L218R	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	218					base-excision repair|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	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	p.L218R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CACATCCACCAGCAGCTGGGT	0.687000													7	38					0	0	0.004482	0	0
LAMA3	3909	broad.mit.edu	37	18	21441624	21441624	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr18:21441624G>A	ENST00000313654.9	+	35	4678	c.4437G>A	c.(4435-4437)ctG>ctA	p.L1479L	LAMA3_ENST00000399516.3_Silent_p.L1479L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1479	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L1479L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGATATGCTGGGCTGGCACC	0.557000													14	73					0	0	0.002450	0	0
MYOM2	9172	broad.mit.edu	37	8	2057240	2057240	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:2057240G>A	ENST00000262113.4	+	25	3239	c.3098G>A	c.(3097-3099)cGc>cAc	p.R1033H	MYOM2_ENST00000523438.1_Missense_Mutation_p.R458H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1033					muscle contraction	myosin filament	structural constituent of muscle	p.R1033H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGCGGGTTCGCTTCTGGCTC	0.443000													25	39					0	0	0.005443	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581684	140581684	+	Silent	SNP	T	T	C	rs142465110	byFrequency	TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:140581684T>C	ENST00000354757.3	+	1	2337	c.2337T>C	c.(2335-2337)ctT>ctC	p.L779L	PCDHB11_ENST00000536699.1_Silent_p.L414L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		779					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L779L(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAAGGTCTTGGGAAGAATA	0.383000													34	128					0	0	0.009718	0	0
FRMPD1	22844	broad.mit.edu	37	9	37733495	37733495	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:37733495A>G	ENST00000539465.1	+	11	1614	c.1021A>G	c.(1021-1023)Ata>Gta	p.I341V	FRMPD1_ENST00000541302.1_Missense_Mutation_p.I210V|FRMPD1_ENST00000536622.1_Missense_Mutation_p.I163V|FRMPD1_ENST00000377765.3_Missense_Mutation_p.I341V|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	341	FERM.					cytoskeleton|cytosol|plasma membrane		p.I341V(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGAGAACTTTATATCTCCAAC	0.428000													13	125					0	0	0.001368	0	0
AGR3	155465	broad.mit.edu	37	7	16900155	16900155	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:16900155C>A	ENST00000310398.2	-	7	490	c.420G>T	c.(418-420)ttG>ttT	p.L140F	AGR3_ENST00000402239.3_Missense_Mutation_p.L140F	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	140						extracellular region		p.L140F(1)		central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CATATGTGTACAATCTGTTAG	0.393000													12	80					3.03607e-14	4.61692e-14	0.001368	1	0
PCDH17	27253	broad.mit.edu	37	13	58207776	58207776	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr13:58207776C>T	ENST00000377918.3	+	1	1122	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	366	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P366S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGAGGCCGCCCCTCCCGGCAC	0.682000													6	49					0	0	0.006214	0	0
TM4SF20	79853	broad.mit.edu	37	2	228243815	228243815	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:228243815C>G	ENST00000304568.3	-	1	207	c.170G>C	c.(169-171)gGa>gCa	p.G57A		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	57						integral to membrane|plasma membrane		p.G57A(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CAGACCTGCTCCTATAATTCC	0.418000													17	80					0	0	0.004007	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765131	77765131	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:77765131C>T	ENST00000521891.2	+	10	6422	c.5974C>T	c.(5974-5976)Ctt>Ttt	p.L1992F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1947F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1947F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1966F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1947	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L1992F(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)			CTATGACAAGCTTTATCCAAT	0.488000										HNSCC(33;0.089)			13	35					0	0	0.001368	0	0
UFC1	51506	broad.mit.edu	37	1	161123809	161123809	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:161123809C>T	ENST00000368003.5	+	1	268	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	8					protein ufmylation		protein binding|UFM1 conjugating enzyme activity	p.R8C(1)		endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCACGCGACGTGTTGTGTC	0.567000													26	135					0	0	0.005443	0	0
CPNE4	131034	broad.mit.edu	37	3	131293942	131293942	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:131293942G>C	ENST00000512055.1	-	14	3026	c.900C>G	c.(898-900)atC>atG	p.I300M	CPNE4_ENST00000429747.1_Missense_Mutation_p.I300M|CPNE4_ENST00000511604.1_Missense_Mutation_p.I300M|CPNE4_ENST00000512332.1_Missense_Mutation_p.I318M|CPNE4_ENST00000502818.1_Missense_Mutation_p.I318M			Q96A23	CPNE4_HUMAN	copine IV	300								p.I300M(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGCCACCCATGATGTAGTCCA	0.433000													31	82					0	0	0.009535	0	0
GJA1	2697	broad.mit.edu	37	6	121768009	121768009	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:121768009G>A	ENST00000282561.3	+	2	173	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	6					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.A6T(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGACTGGAGCGCCTTAGGCAA	0.463000													6	212					0	0	0.001168	0	0
TRPC6	7225	broad.mit.edu	37	11	101353723	101353723	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:101353723G>T	ENST00000344327.3	-	5	1891	c.1467C>A	c.(1465-1467)tcC>tcA	p.S489S	TRPC6_ENST00000532133.1_Silent_p.S489S|TRPC6_ENST00000348423.4_Silent_p.S373S|TRPC6_ENST00000360497.4_Silent_p.S434S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	489					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.S489S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATGAGAAGCAGGATGTTTTCA	0.403000													15	71					5.35267e-07	6.68704e-07	0.007413	1	0
KMT2C	58508	broad.mit.edu	37	7	151945162	151945162	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:151945162G>T	ENST00000355193.2	-	14	2575	c.2357C>A	c.(2356-2358)aCa>aAa	p.T786K	KMT2C_ENST00000262189.6_Missense_Mutation_p.T786K					lysine (K)-specific methyltransferase 2C									p.T786K(2)									TGAAGAAGGTGTTGGGGAGGA	0.433000													8	318					1.12685e-05	1.32165e-05	0.004482	1	0
NASP	4678	broad.mit.edu	37	1	46081054	46081054	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:46081054C>G	ENST00000350030.3	+	11	2020	c.1933C>G	c.(1933-1935)Ctg>Gtg	p.L645V	NASP_ENST00000537798.1_Missense_Mutation_p.L581V|NASP_ENST00000402363.3_Missense_Mutation_p.L647V|NASP_ENST00000372052.4_Missense_Mutation_p.L279V|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Missense_Mutation_p.L306V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	645	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	p.L647V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ACTAAAGGAACTGCTACCCGA	0.428000													23	119					0	0	0.002780	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862482	43862482	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:43862482C>A	ENST00000389420.3	-	8	1143	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D382Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	382	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.D382Y(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTAAAGGATCACATATGGTA	0.333000													4	27					0.00909568	0.0096423	0.009096	1	0
LMTK2	22853	broad.mit.edu	37	7	97821047	97821047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:97821047C>T	ENST00000297293.5	+	11	1563	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	424					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q424*(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGACTTTGAACAGCAGTGGAA	0.572000													30	55					0	0	0.007291	0	0
EPC2	26122	broad.mit.edu	37	2	149542282	149542282	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:149542282G>T	ENST00000258484.6	+	13	2097	c.2063G>T	c.(2062-2064)aGc>aTc	p.S688I		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	688					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S688I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTATCATCCAGCCCAGGGATT	0.418000													30	155					6.02846e-25	1.08512e-24	0.003271	1	0
LMO7	4008	broad.mit.edu	37	13	76427505	76427505	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr13:76427505G>T	ENST00000357063.3	+	29	6058	c.4798G>T	c.(4798-4800)Ggc>Tgc	p.G1600C	LMO7_ENST00000341547.4_Missense_Mutation_p.G1266C|LMO7_ENST00000377534.3_Missense_Mutation_p.G1600C|LMO7_ENST00000526202.1_Missense_Mutation_p.G1192C|LMO7_ENST00000321797.8_Missense_Mutation_p.G1315C|LMO7_ENST00000465261.2_Missense_Mutation_p.G1315C			Q8WWI1	LMO7_HUMAN	LIM domain 7	1600						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.G1315C(1)|p.G1600C(1)|p.G1266C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCACAGTCAGGCTCTCAGCT	0.532000													15	51					1.05317e-09	1.43348e-09	0.002450	1	0
HUS1B	135458	broad.mit.edu	37	6	656684	656684	+	Silent	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:656684C>G	ENST00000380907.2	-	1	279	c.261G>C	c.(259-261)ctG>ctC	p.L87L	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	87								p.L87L(1)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CCGCCCGGGACAGGTGCTCCG	0.677000													5	16					0	0	0.001168	0	0
KLB	152831	broad.mit.edu	37	4	39439587	39439587	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:39439587C>A	ENST00000257408.4	+	3	1674	c.1577C>A	c.(1576-1578)tCc>tAc	p.S526Y		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	526	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.S526Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGTGACTTCTCCTGGGGTGTC	0.403000													11	45					0.000978159	0.00107039	0.000978	1	0
NLRP3	114548	broad.mit.edu	37	1	247588096	247588096	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:247588096C>T	ENST00000366497.2	+	4	2131	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	NLRP3_ENST00000336119.3_Silent_p.L451L|NLRP3_ENST00000348069.2_Silent_p.L451L|NLRP3_ENST00000391827.2_Silent_p.L451L|NLRP3_ENST00000391828.3_Silent_p.L451L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.L451L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	451	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L451L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTCCAGTTTGCTGCAGCCCCG	0.592000													15	63					0	0	0.004007	0	0
RYR1	6261	broad.mit.edu	37	19	38939038	38939038	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:38939038C>T	ENST00000355481.4	+	10	975	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	RYR1_ENST00000360985.3_Missense_Mutation_p.R282W|RYR1_ENST00000359596.3_Missense_Mutation_p.R282W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	282	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R282W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTCCGAGTCCGGCATGTCAC	0.642000													41	195					0	0	0.003610	0	0
DMBX1	127343	broad.mit.edu	37	1	46978112	46978112	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:46978112G>T	ENST00000371956.4	+	4	1110	c.1095G>T	c.(1093-1095)cgG>cgT	p.R365R	DMBX1_ENST00000360032.3_Silent_p.R360R	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	365					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R365L(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGAACCTGCGGCTCCGGGCCA	0.632000													18	124					1.55795e-14	2.39392e-14	0.001882	1	0
ADCY2	108	broad.mit.edu	37	5	7709407	7709407	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:7709407C>A	ENST00000338316.4	+	10	1574	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.T315T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	495					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.T495T(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCGCATGACCCGGTACTTGG	0.592000													6	53					3.59834e-05	4.11105e-05	0.001168	1	0
RTN1	6252	broad.mit.edu	37	14	60213093	60213093	+	Silent	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:60213093A>G	ENST00000267484.5	-	2	683	c.348T>C	c.(346-348)ccT>ccC	p.P116P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	116					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P116P(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AATCCTCCTGAGGTGGATAGC	0.488000													4	109					0	0	0.000602	0	0
NRXN2	9379	broad.mit.edu	37	11	64418893	64418893	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:64418893C>A	ENST00000265459.6	-	14	3213	c.2752G>T	c.(2752-2754)Gat>Tat	p.D918Y	NRXN2_ENST00000377551.1_Missense_Mutation_p.D918Y|NRXN2_ENST00000409571.1_Missense_Mutation_p.D911Y|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.D878Y	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	918	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding	p.D918Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTGACGGGATCGGCCACGATG	0.587000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	58					1.58986e-06	1.93682e-06	0.008291	1	0
DMBX1	127343	broad.mit.edu	37	1	46978111	46978111	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:46978111G>T	ENST00000371956.4	+	4	1109	c.1094G>T	c.(1093-1095)cGg>cTg	p.R365L	DMBX1_ENST00000360032.3_Missense_Mutation_p.R360L	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	365					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R365L(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAGAACCTGCGGCTCCGGGCC	0.637000													18	123					5.26018e-13	7.78436e-13	0.001882	1	0
TPRG1L	127262	broad.mit.edu	37	1	3542012	3542012	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:3542012G>C	ENST00000378344.2	+	2	297	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	TPRG1L_ENST00000344579.5_Missense_Mutation_p.E76Q	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	76						cell junction|synaptic vesicle		p.E76Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GCAGGCAGTGGAGGAGATCCG	0.716000													4	10					0	0	0.000602	0	0
MMP27	64066	broad.mit.edu	37	11	102576439	102576439	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:102576439G>T	ENST00000260229.4	-	1	98	c.7C>A	c.(7-9)Cgc>Agc	p.R3S		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	3					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R3S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AGCAGAAGGCGCTTCATTCCT	0.388000													20	83					4.96729e-08	6.42397e-08	0.008871	1	0
GOLGB1	2804	broad.mit.edu	37	3	121411082	121411082	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:121411082T>A	ENST00000393667.3	-	14	7239	c.7129A>T	c.(7129-7131)Agg>Tgg	p.R2377W	GOLGB1_ENST00000340645.5_Missense_Mutation_p.R2372W	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2372					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.R2372W(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCATGCAGCCTACTGGTCAGT	0.428000													20	86					0	0	0.001882	0	0
C20orf26	26074	broad.mit.edu	37	20	20177420	20177420	+	Splice_Site	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr20:20177420G>T	ENST00000245957.5	+	16	1873	c.1797_splice	c.e16+1	p.K599_splice	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	599								p.K599N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAGAAGGCAAGGTAAGAGAAT	0.448000													14	69					7.93312e-07	9.79974e-07	0.002450	1	0
PSMB6	5694	broad.mit.edu	37	17	4701416	4701416	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:4701416C>A	ENST00000270586.3	+	5	596	c.545C>A	c.(544-546)aCc>aAc	p.T182N		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	182					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	p.T182N(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						GAAGGCATGACCAAGGAAGAG	0.537000													18	169					2.35188e-11	3.31367e-11	0.006122	1	0
FOXN1	8456	broad.mit.edu	37	17	26851543	26851543	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:26851543C>T	ENST00000226247.2	+	2	175	c.146C>T	c.(145-147)tCg>tTg	p.S49L	FOXN1_ENST00000579795.1_Missense_Mutation_p.S49L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	49					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S49L(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TTCAGCTGCTCGTCATTTGTG	0.642000													7	166					0	0	0.006214	0	0
CIITA	4261	broad.mit.edu	37	16	11016071	11016071	+	Missense_Mutation	SNP	G	G	T	rs142072017		TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr16:11016071G>T	ENST00000324288.8	+	17	3330	c.3197G>T	c.(3196-3198)cGt>cTt	p.R1066L	CIITA_ENST00000381835.5_Missense_Mutation_p.R482L	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1066					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.R1066L(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGCTTGGCTCGTGTGCTTCCG	0.627000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								59	277					2.48295e-43	4.74018e-43	0.003610	1	0
PDX1	3651	broad.mit.edu	37	13	28498617	28498617	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr13:28498617G>A	ENST00000381033.4	+	2	750	c.631G>A	c.(631-633)Ggc>Agc	p.G211S		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	211				GG -> SS (in Ref. 6; AAC05157).	detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GAAGCGCGGCGGCGGGACAGC	0.662000													3	36					0	0	0.009096	0	0
FAT3	120114	broad.mit.edu	37	11	92616483	92616483	+	Silent	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:92616483C>G	ENST00000298047.6	+	23	12878	c.12861C>G	c.(12859-12861)ccC>ccG	p.P4287P	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Silent_p.P622P|FAT3_ENST00000525166.1_Silent_p.P4137P|FAT3_ENST00000409404.2_Silent_p.P4287P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4287					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P4287P(2)|p.P862P(1)		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)				GTGTGGCCCCCAACCTCCCCG	0.652000										TCGA Ovarian(4;0.039)			7	60					0	0	0.003080	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			68	150					7.62596e-35	1.43108e-34	0.003610	1	0
THEMIS	387357	broad.mit.edu	37	6	128134714	128134714	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:128134714C>A	ENST00000368250.1	-	5	1333	c.835G>T	c.(835-837)Gct>Tct	p.A279S	THEMIS_ENST00000543064.1_Missense_Mutation_p.A358S|THEMIS_ENST00000537166.1_Missense_Mutation_p.A323S|THEMIS_ENST00000368248.2_Missense_Mutation_p.A358S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	358	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.A358S(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						TCACTCTTAGCGATCTCTAGG	0.498000													22	84					1.87028e-06	2.27216e-06	0.001882	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656817	40656817	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:40656817G>T	ENST00000406785.1	-	2	793	c.604C>A	c.(604-606)Cgt>Agt	p.R202S	SLC8A1_ENST00000542756.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R202S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R202S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R202S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R202S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	202					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R202S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGAAGACACGCAAATGCTTA	0.458000													13	40					4.3838e-07	5.52359e-07	0.001855	1	0
LOX	4015	broad.mit.edu	37	5	121413408	121413408	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:121413408G>A	ENST00000231004.4	-	1	572	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	91					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	p.I91I(1)		endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GGATCAGCAGGATCGGAGTGC	0.751000													4	14					0	0	0.000602	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534744	31534744	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr22:31534744G>T	ENST00000215885.3	-	2	808	c.556C>A	c.(556-558)Cgc>Agc	p.R186S		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	186	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	p.R186S(2)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGTGGGCAGCGGTCATGTTCC	0.582000													42	144					7.05121e-23	1.23396e-22	0.002522	1	0
C1orf173	127254	broad.mit.edu	37	1	75065534	75065534	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:75065534T>C	ENST00000326665.5	-	11	1789	c.1571A>G	c.(1570-1572)aAt>aGt	p.N524S	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.N327S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	524	Glu-rich.							p.N524S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGGTATTCCATTCATTTGAAC	0.388000													13	67					0	0	0.002450	0	0
PRMT8	56341	broad.mit.edu	37	12	3677879	3677879	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:3677879C>A	ENST00000382622.3	+	5	879	c.489C>A	c.(487-489)acC>acA	p.T163T	PRMT8_ENST00000452611.2_Silent_p.T154T|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	163					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.T163T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGTCATCACCATATTTAAGG	0.522000													16	86					4.14922e-12	6.01909e-12	0.004007	1	0
CYP46A1	10858	broad.mit.edu	37	14	100182493	100182493	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:100182493C>T	ENST00000554176.1	+	4	1071	c.405C>T	c.(403-405)gaC>gaT	p.D135D	CYP46A1_ENST00000423126.2_Silent_p.D191D|CYP46A1_ENST00000261835.3_Silent_p.D288D			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	288					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.D288D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAGCCCAGGACGACGAGGGTC	0.517000													27	142					0	0	0.008361	0	0
FREM1	158326	broad.mit.edu	37	9	14859287	14859287	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:14859287C>A	ENST00000380881.4	-	5	1340	c.525G>T	c.(523-525)ctG>ctT	p.L175L	FREM1_ENST00000422223.2_Silent_p.L175L|FREM1_ENST00000380880.3_Silent_p.L175L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	175					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.D176Y(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCGCAGTGTCCAGGCTGACGG	0.527000													18	94					5.03518e-11	6.96086e-11	0.007413	1	0
SERPINI2	5276	broad.mit.edu	37	3	167183287	167183287	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:167183287G>T	ENST00000476257.1	-	5	951	c.653C>A	c.(652-654)gCt>gAt	p.A218D	SERPINI2_ENST00000471111.1_Missense_Mutation_p.A218D|SERPINI2_ENST00000264677.4_Missense_Mutation_p.A218D|SERPINI2_ENST00000461846.1_Missense_Mutation_p.A218D			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	218					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A218D(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCTCAGAAGAGCCTTCATCAT	0.328000													9	30					0.000274275	0.000304673	0.004482	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12919588	12919588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:12919588G>T	ENST00000240189.2	+	3	415	c.328G>T	c.(328-330)Gag>Tag	p.E110*		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	110								p.E110*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGATGAGAATTTCTG	0.542000													94	370					1.13638e-54	2.21745e-54	0.003610	1	0
STIM1	6786	broad.mit.edu	37	11	4103493	4103493	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:4103493G>T	ENST00000300737.4	+	8	1618	c.1049G>T	c.(1048-1050)tGg>tTg	p.W350L	STIM1_ENST00000533977.1_Missense_Mutation_p.W177L|STIM1_ENST00000527651.1_Missense_Mutation_p.W350L	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	350					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.W350L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CTTCAGAAGTGGCTGCAGCTG	0.532000													17	42					2.48551e-13	3.6906e-13	0.004990	1	0
PTPRC	5788	broad.mit.edu	37	1	198665956	198665956	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:198665956C>A	ENST00000367376.2	+	4	381	c.210C>A	c.(208-210)acC>acA	p.T70T	PTPRC_ENST00000352140.3_Silent_p.T70T|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Silent_p.T72T|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	70					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.T70T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCTCAGAGACCACAACTTCTC	0.458000													26	123					5.60225e-13	8.26285e-13	0.009535	1	0
CETN2	1069	broad.mit.edu	37	X	151997692	151997692	+	Splice_Site	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:151997692C>A	ENST00000370277.3	-	3	358		c.e3+1		CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2						cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.?(1)		breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCTACTTACCATTTTCTGG	0.398000								Direct reversal of damage;Nucleotide excision repair (NER)					37	67					2.2871e-25	4.13364e-25	0.007835	1	0
OR6N2	81442	broad.mit.edu	37	1	158746816	158746816	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:158746816C>T	ENST00000339258.1	-	1	609	c.610G>A	c.(610-612)Gct>Act	p.A204T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	204			A -> V (in dbSNP:rs12027473).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A204T(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					ATTATGAAAGCATTAATGGCA	0.393000													7	53					0	0	0.001984	0	0
LRRC25	126364	broad.mit.edu	37	19	18507413	18507413	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:18507413C>G	ENST00000339007.3	-	1	1014	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	LRRC25_ENST00000595840.1_Missense_Mutation_p.E121Q	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	121						integral to membrane		p.E121Q(1)		endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGCCAGGACTCCAGGGCACAG	0.632000													17	53					0	0	0.004990	0	0
FBXO36	130888	broad.mit.edu	37	2	230861624	230861624	+	Silent	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:230861624A>T	ENST00000373652.3	+	4	691	c.270A>T	c.(268-270)tcA>tcT	p.S90S	FBXO36_ENST00000409992.1_Silent_p.S101S|FBXO36_ENST00000283946.3_Silent_p.S121S			Q8NEA4	FBX36_HUMAN	F-box protein 36	121								p.S121S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTCAAACATCACACAGATTTG	0.333000													36	198					0	0	0.004289	0	0
LRRN3	54674	broad.mit.edu	37	7	110764808	110764808	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:110764808C>A	ENST00000451085.1	+	4	3026	c.1980C>A	c.(1978-1980)agC>agA	p.S660R	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S660R|LRRN3_ENST00000422987.3_Missense_Mutation_p.S660R|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	660						integral to membrane		p.S660R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GTGGACACAGCTATGTGAGGA	0.433000													34	84					6.70999e-13	9.86368e-13	0.004289	1	0
UBR4	23352	broad.mit.edu	37	1	19444381	19444381	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:19444381A>C	ENST00000375267.2	-	72	10568	c.10565T>G	c.(10564-10566)tTt>tGt	p.F3522C	UBR4_ENST00000375254.3_Missense_Mutation_p.F3522C|UBR4_ENST00000375217.2_Missense_Mutation_p.F3515C|UBR4_ENST00000375226.2_Missense_Mutation_p.F3498C|UBR4_ENST00000375218.3_5'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3522					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.F3522C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATAGCCATCAAACTCCACTAA	0.438000													28	112					0	0	0.002096	0	0
ARSH	347527	broad.mit.edu	37	X	2947341	2947341	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:2947341C>A	ENST00000381130.2	+	8	1253	c.1253C>A	c.(1252-1254)tCc>tAc	p.S418Y		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	418						integral to membrane	arylsulfatase activity|metal ion binding	p.S418Y(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCGTCCCACTCCGACCACGAG	0.547000													23	77					5.49717e-05	6.23201e-05	0.003330	1	0
OR7G1	125962	broad.mit.edu	37	19	9225999	9225999	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:9225999G>T	ENST00000293614.1	-	1	440	c.441C>A	c.(439-441)ctC>ctA	p.L147L	OR7G1_ENST00000541538.1_Silent_p.L147L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L147L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGAACATGGAGAGAAGAATCA	0.483000													28	54					1.68575e-08	2.21916e-08	0.007291	1	0
CHRM2	1129	broad.mit.edu	37	7	136700630	136700630	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:136700630A>C	ENST00000445907.2	+	3	1546	c.1018A>C	c.(1018-1020)Act>Cct	p.T340P	AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.T340P|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T340P|CHRM2_ENST00000397608.3_Missense_Mutation_p.T340P|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.T340P|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.T340P|AC009264.1_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	340					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.T340P(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATGTACCCCAACTAATACCAC	0.473000													8	118					0	0	0.006214	0	0
SEC23IP	11196	broad.mit.edu	37	10	121691670	121691670	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:121691670G>C	ENST00000369075.3	+	16	2670	c.2598G>C	c.(2596-2598)atG>atC	p.M866I	SEC23IP_ENST00000543134.1_Missense_Mutation_p.M655I|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	866	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.M866_G867>I*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCTCTCGTATGGGATCTGATT	0.388000													17	132					0	0	0.010504	0	0
HDAC9	9734	broad.mit.edu	37	7	18705968	18705968	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:18705968A>T	ENST00000406451.3	+	12	1741	c.1591A>T	c.(1591-1593)Agc>Tgc	p.S531C	HDAC9_ENST00000524023.1_Missense_Mutation_p.S454C|HDAC9_ENST00000406072.1_Missense_Mutation_p.S518C|HDAC9_ENST00000441542.2_Missense_Mutation_p.S534C|HDAC9_ENST00000432645.2_Missense_Mutation_p.S531C|HDAC9_ENST00000428307.2_Missense_Mutation_p.S487C|HDAC9_ENST00000417496.2_Missense_Mutation_p.S529C|HDAC9_ENST00000405010.3_Missense_Mutation_p.S531C|HDAC9_ENST00000456174.2_Missense_Mutation_p.S503C|HDAC9_ENST00000401921.1_Missense_Mutation_p.S490C	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	531					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.S534C(2)|p.S531C(1)|p.S529C(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TAGGAGCGACAGCAGTGCTTG	0.557000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	91					0	0	0.001368	0	0
CHST10	9486	broad.mit.edu	37	2	101010245	101010245	+	Splice_Site	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:101010245C>A	ENST00000264249.3	-	7	919		c.e7-1		CHST10_ENST00000409701.1_Splice_Site|CHST10_ENST00000542617.1_Splice_Site	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10						carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		p.?(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TGTTTTCAATCTAAGGAAAAA	0.428000													29	76					7.26314e-15	1.12388e-14	0.007291	1	0
SP3	6670	broad.mit.edu	37	2	174820756	174820756	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:174820756T>C	ENST00000310015.6	-	4	1014	c.484A>G	c.(484-486)Aat>Gat	p.N162D	SP3_ENST00000455789.2_Missense_Mutation_p.N109D|SP3_ENST00000418194.2_Missense_Mutation_p.N94D	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	162	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	p.N162D(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACTGTACCATTTGATGAATCT	0.428000													55	186					0	0	0.003610	0	0
CDH17	1015	broad.mit.edu	37	8	95188777	95188777	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:95188777G>T	ENST00000027335.3	-	5	540	c.416C>A	c.(415-417)tCt>tAt	p.S139Y	CDH17_ENST00000450165.2_Missense_Mutation_p.S139Y|CDH17_ENST00000441892.2_Missense_Mutation_p.S139Y	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	139	Cadherin 2.					integral to membrane	calcium ion binding	p.S139Y(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACCTGGGCGAGAGTTCTGCCT	0.517000													45	130					1.38658e-30	2.54783e-30	0.003610	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6086641	6086641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:6086641C>A	ENST00000409021.3	-	5	1335	c.886G>T	c.(886-888)Gaa>Taa	p.E296*	JAKMIP1_ENST00000409371.3_Nonsense_Mutation_p.E131*|JAKMIP1_ENST00000282924.5_Nonsense_Mutation_p.E296*|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Nonsense_Mutation_p.E296*|JAKMIP1_ENST00000410077.2_Nonsense_Mutation_p.E131*	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	296	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.E296*(2)|p.E296K(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAATTCAGTTCAGCAATTTTT	0.393000													92	376					2.14978e-47	4.12197e-47	0.003610	1	0
CD163L1	283316	broad.mit.edu	37	12	7531644	7531644	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:7531644C>A	ENST00000313599.3	-	9	2358	c.2301G>T	c.(2299-2301)tgG>tgT	p.W767C	CD163L1_ENST00000416109.2_Missense_Mutation_p.W777C|CD163L1_ENST00000396630.1_Missense_Mutation_p.W767C|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	767	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.W767C(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTATACAATCCCAGAGAGAGG	0.433000													12	65					5.35267e-07	6.68704e-07	0.007413	1	0
KCNK10	54207	broad.mit.edu	37	14	88729781	88729781	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:88729781A>T	ENST00000340700.5	-	2	603	c.152T>A	c.(151-153)gTg>gAg	p.V51E	KCNK10_ENST00000312350.5_Missense_Mutation_p.V56E|KCNK10_ENST00000319231.5_Missense_Mutation_p.V56E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	51					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.V56E(2)|p.V51E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCTGGCTACCACTGTGGCTCG	0.627000													29	164					0	0	0.006230	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433091	73433091	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:73433091G>T	ENST00000263666.4	-	10	2740	c.2626C>A	c.(2626-2628)Cac>Aac	p.H876N	PDZRN3_ENST00000466780.1_Missense_Mutation_p.H533N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H593N|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H533N|PDZRN3_ENST00000535920.1_Missense_Mutation_p.H598N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	876							ubiquitin-protein ligase activity|zinc ion binding	p.H876N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGCTGGGCGTGCGCCGGGATG	0.647000													30	141					8.58068e-18	1.39121e-17	0.007291	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281898	125281898	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:125281898G>T	ENST00000431078.1	+	9	1707	c.1343G>T	c.(1342-1344)gGc>gTc	p.G448V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	448	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G448V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGAATGATGGCCTGTGGCAC	0.552000													32	64					6.04164e-23	1.06455e-22	0.002096	1	0
SLC9A2	6549	broad.mit.edu	37	2	103274287	103274287	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:103274287G>T	ENST00000233969.2	+	2	696	c.554G>T	c.(553-555)gGg>gTg	p.G185V		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	185						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.G185V(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATTGGCATTGGGGTGTCTTTG	0.493000													62	424					1.22119e-34	2.28197e-34	0.003610	1	0
NPR3	4883	broad.mit.edu	37	5	32739117	32739117	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:32739117G>T	ENST00000265074.8	+	3	1383	c.1040G>T	c.(1039-1041)gGg>gTg	p.G347V	NPR3_ENST00000434067.2_Missense_Mutation_p.G131V|NPR3_ENST00000415685.2_Missense_Mutation_p.G131V|NPR3_ENST00000415167.2_Missense_Mutation_p.G347V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	347					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.G347V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGAAACAAGGGCTCAATATG	0.433000													20	109					7.21436e-19	1.19607e-18	0.008871	1	0
UGT2B28	54490	broad.mit.edu	37	4	70156378	70156378	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:70156378G>T	ENST00000335568.5	+	5	1161	c.1159G>T	c.(1159-1161)Ggg>Tgg	p.G387W	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	387					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G387W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AATCTACCATGGGATCCCTAT	0.428000													11	83					3.07112e-06	3.67036e-06	0.000978	1	0
POTEE	445582	broad.mit.edu	37	2	132021567	132021567	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:132021567C>A	ENST00000356920.5	+	15	2633	c.2539C>A	c.(2539-2541)Cgt>Agt	p.R847S	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	847	Actin-like.						ATP binding	p.R847S(1)									CACCTCTGGCCGTACTACTGG	0.607000													119	270					1.65771e-47	3.19236e-47	0.003610	1	0
CSMD2	114784	broad.mit.edu	37	1	33992844	33992844	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:33992844C>A	ENST00000373381.4	-	65	10362	c.10186G>T	c.(10186-10188)Ggg>Tgg	p.G3396W		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3252						integral to membrane|plasma membrane	protein binding	p.G3252W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGTCTCCCACTGGGCCGG	0.502000													19	101					3.99206e-14	6.04982e-14	0.007413	1	0
IRF4	3662	broad.mit.edu	37	6	394900	394900	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:394900G>A	ENST00000380956.4	+	3	422	c.296G>A	c.(295-297)tGc>tAc	p.C99Y	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	99					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.C99Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CGCCTGCGGTGCGCTTTGAAC	0.547000			T	IGH@	MM								29	201					0	0	0.002096	0	0
TRPM2	7226	broad.mit.edu	37	21	45825878	45825878	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr21:45825878C>A	ENST00000397928.1	+	18	3193	c.2748C>A	c.(2746-2748)atC>atA	p.I916I	TRPM2_ENST00000397932.2_Silent_p.I916I|TRPM2_ENST00000300481.9_Silent_p.I896I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.I916I	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	916						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.I916I(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTTTTACCATCAGTAAGACGC	0.652000													81	331					4.78148e-37	9.01126e-37	0.003610	1	0
HAL	3034	broad.mit.edu	37	12	96387882	96387882	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:96387882G>A	ENST00000261208.3	-	5	765	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	HAL_ENST00000538703.1_Missense_Mutation_p.R133C|HAL_ENST00000541929.1_De_novo_Start_InFrame	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	133					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.R133C(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATTTTGTAGCGTCCCTTTCCC	0.473000													150	536					0	0	0.003610	0	0
CHUK	1147	broad.mit.edu	37	10	101982738	101982738	+	Splice_Site	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:101982738C>A	ENST00000370397.7	-	3	287		c.e3-1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		ATGGTTCAACCTAATAAGAAA	0.348000													21	72					1.64113e-05	1.91466e-05	0.010504	1	0
ITCH	83737	broad.mit.edu	37	20	33001615	33001615	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr20:33001615G>T	ENST00000374864.4	+	6	618	c.405G>T	c.(403-405)ttG>ttT	p.L135F	ITCH_ENST00000262650.6_Missense_Mutation_p.L135F|ITCH_ENST00000535650.1_Missense_Mutation_p.L25F	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	135					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	p.L135F(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TAGGAGACTTGTCAATTTGTC	0.373000													17	77					9.16793e-09	1.21779e-08	0.004990	1	0
TAAR5	9038	broad.mit.edu	37	6	132910429	132910429	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:132910429G>T	ENST00000258034.2	-	1	448	c.397C>A	c.(397-399)Cac>Aac	p.H133N		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	133					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.H133N(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)		ATGGCACAGTGGCGGTCAATG	0.582000													26	50					1.55811e-20	2.66328e-20	0.008361	1	0
XIRP2	129446	broad.mit.edu	37	2	168115433	168115433	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:168115433G>C	ENST00000409728.1	+	11	2565	c.2476G>C	c.(2476-2478)Gtg>Ctg	p.V826L	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V826L|XIRP2_ENST00000409043.1_Missense_Mutation_p.V793L|XIRP2_ENST00000409756.2_Missense_Mutation_p.V793L|XIRP2_ENST00000409605.1_Missense_Mutation_p.V571L|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.V826L(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						TGGCAGTCCTGTGCAGCCTGC	0.438000													3	11					0	0	0.004672	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751813	62751813	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:62751813G>T	ENST00000377871.3	-	1	616	c.350C>A	c.(349-351)cCa>cAa	p.P117Q	SLC22A6_ENST00000421062.2_Missense_Mutation_p.P117Q|SLC22A6_ENST00000458333.2_Missense_Mutation_p.P117Q|SLC22A6_ENST00000360421.4_Missense_Mutation_p.P117Q	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	117					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.P117Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GATGGTAGATGGGAAGGTGCT	0.547000													27	185					3.33393e-15	5.17699e-15	0.004878	1	0
DMXL2	23312	broad.mit.edu	37	15	51780775	51780775	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr15:51780775T>C	ENST00000251076.5	-	21	5308	c.5021A>G	c.(5020-5022)aAg>aGg	p.K1674R	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.K1038R|DMXL2_ENST00000543779.2_Missense_Mutation_p.K1674R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1674						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.K1674R(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCTTTCTTCTTCATTGAAAG	0.353000													3	95					0	0	0.004672	0	0
NEK7	140609	broad.mit.edu	37	1	198225496	198225496	+	Silent	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:198225496G>C	ENST00000367383.1	+	4	421	c.237G>C	c.(235-237)gcG>gcC	p.A79A	NEK7_ENST00000538004.1_Intron|NEK7_ENST00000367385.4_Intron			Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	79	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GAGTGTGTGCGCTAAATGCAT	0.403000													4	24					0	0	0.000602	0	0
CETN2	1069	broad.mit.edu	37	X	151997693	151997693	+	Splice_Site	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:151997693C>A	ENST00000370277.3	-	3	357	c.291_splice	c.e3+1	p.M97_splice	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	97	EF-hand 2.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.M97I(1)|p.?(1)		breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTACTTACCATTTTCTGGG	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)					36	67					2.2871e-25	4.13364e-25	0.007835	1	0
CBR3	874	broad.mit.edu	37	21	37518591	37518591	+	Silent	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr21:37518591G>C	ENST00000290354.5	+	3	896	c.615G>C	c.(613-615)tcG>tcC	p.S205S	CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	205						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding	p.S205S(1)		kidney(1)|large_intestine(1)|lung(1)	3						CGGTCTTATCGAGGATCCTGG	0.527000													15	76					0	0	0.004007	0	0
CECR1	51816	broad.mit.edu	37	22	17669245	17669245	+	Missense_Mutation	SNP	G	G	T	rs116020027	by1000genomes	TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr22:17669245G>T	ENST00000399839.1	-	7	1335	c.1065C>A	c.(1063-1065)ttC>ttA	p.F355L	CECR1_ENST00000262607.3_Missense_Mutation_p.F355L|CECR1_ENST00000330232.4_Missense_Mutation_p.F114L|CECR1_ENST00000399837.2_Missense_Mutation_p.F355L|CECR1_ENST00000449907.2_Missense_Mutation_p.F313L			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	355					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	p.F114L(1)|p.F355L(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTCCGGCGTGGAAGAAGTAAG	0.602000													17	63					4.14922e-12	6.01909e-12	0.004007	1	0
FER1L6	654463	broad.mit.edu	37	8	124998416	124998416	+	Splice_Site	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:124998416G>T	ENST00000522917.1	+	12	1725	c.1519_splice	c.e12+1	p.G507_splice	FER1L6_ENST00000399018.1_Splice_Site_p.G507_splice|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	507						integral to membrane		p.G507C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGTTTCTATTGGTAAGTACAG	0.358000													15	86					7.93312e-07	9.79974e-07	0.002450	1	0
PDP1	54704	broad.mit.edu	37	8	94935758	94935758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:94935758G>T	ENST00000396200.3	+	3	1822	c.1546G>T	c.(1546-1548)Gag>Tag	p.E516*	PDP1_ENST00000520728.1_Nonsense_Mutation_p.E491*|PDP1_ENST00000517764.1_Nonsense_Mutation_p.E491*|PDP1_ENST00000297598.4_Nonsense_Mutation_p.E491*	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	491					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	p.E491*(1)|p.E516*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGGCAACAACGAGTTTGGGAC	0.453000													56	136					1.04682e-39	1.98132e-39	0.003610	1	0
MAP1LC3C	440738	broad.mit.edu	37	1	242161853	242161853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:242161853G>A	ENST00000357246.3	-	3	248	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	62					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	p.Q62*(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCAGCTCCTGCGGGACCAGG	0.617000											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	136					0	0	0.003163	0	0
BCOR	54880	broad.mit.edu	37	X	39933726	39933726	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:39933726C>T	ENST00000342274.4	-	4	1235	c.873G>A	c.(871-873)atG>atA	p.M291I	BCOR_ENST00000378444.4_Missense_Mutation_p.M291I|BCOR_ENST00000397354.3_Missense_Mutation_p.M291I|BCOR_ENST00000378455.4_Missense_Mutation_p.M291I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	291					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.M291_G292>IC(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGCTGACGCCCATCTTCCACG	0.612000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	25					0	0	0.000602	0	0
FAT2	2196	broad.mit.edu	37	5	150946774	150946774	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:150946774G>A	ENST00000261800.5	-	1	1731	c.1719C>T	c.(1717-1719)atC>atT	p.I573I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	573	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.I573I(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCTTGGCGGATAGACCCTG	0.453000													39	80					0	0	0.008740	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32894028	32894028	+	RNA	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr16:32894028G>A	ENST00000330048.5	-	0	1229					NR_003083.2																						CCAGGTAATAGAAGCCCCAGG	0.572000													12	57					0	0	0.004007	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	50					0.00909568	0.0096423	0.009096	1	0
ANGPTL2	23452	broad.mit.edu	37	9	129851286	129851286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:129851286G>A	ENST00000373425.3	-	5	2031	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.R170*|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	472	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding	p.R472*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GAGCCTCCTCGGAACTCAGCC	0.597000													67	236					0	0	0.003610	0	0
OR10A7	121364	broad.mit.edu	37	12	55615132	55615132	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:55615132C>A	ENST00000326258.1	+	1	324	c.324C>A	c.(322-324)ggC>ggA	p.G108G		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108G(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCTTCTTTGGCAGTTCTGAAT	0.428000													25	167					2.44723e-14	3.74732e-14	0.004656	1	0
RYR2	6262	broad.mit.edu	37	1	237895400	237895400	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:237895400C>T	ENST00000366574.2	+	78	11307	c.10990C>T	c.(10990-10992)Cta>Tta	p.L3664L	RYR2_ENST00000360064.6_Silent_p.L3662L|RYR2_ENST00000542537.1_Silent_p.L3648L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3664					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.L3662L(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)			AGTTGATCCTCTACATCAGCT	0.398000													4	32					0	0	0.001168	0	0
FLG	2312	broad.mit.edu	37	1	152284188	152284188	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:152284188G>T	ENST00000368799.1	-	3	3209	c.3174C>A	c.(3172-3174)gtC>gtA	p.V1058V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1058	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.V1058V(1)		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)			CACTGTCTCTGACTGCAGATG	0.562000									Ichthyosis				427	844					4.17645e-142	8.22238e-142	0.003610	1	0
CAD	790	broad.mit.edu	37	2	27465587	27465587	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:27465587A>C	ENST00000264705.4	+	41	6484	c.6322A>C	c.(6322-6324)Agc>Cgc	p.S2108R	CAD_ENST00000403525.1_Missense_Mutation_p.S2045R	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2108	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.S2108R(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGCACCTCCCAGCCTGCGCAT	0.647000													14	101					0	0	0.010504	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072677	17072677	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr22:17072677G>T	ENST00000359963.3	-	1	1023	c.764C>A	c.(763-765)gCa>gAa	p.A255E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	255					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A255E(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGTTGCTGGTGCATTTGGATG	0.502000													53	174					4.96213e-28	9.08009e-28	0.003610	1	0
DTX2	113878	broad.mit.edu	37	7	76112259	76112259	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:76112259G>T	ENST00000324432.5	+	5	1213	c.703G>T	c.(703-705)Gct>Tct	p.A235S	DTX2_ENST00000307569.8_Missense_Mutation_p.A235S|DTX2_ENST00000446820.2_Missense_Mutation_p.A235S|DTX2_ENST00000430490.2_Missense_Mutation_p.A235S|DTX2_ENST00000446600.1_Missense_Mutation_p.A144S|DTX2_ENST00000413936.2_Missense_Mutation_p.A235S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	235					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.A235S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACACAGGACCGCTTCTGTGTT	0.662000													45	739					1.77355e-41	3.37128e-41	0.003610	1	0
SLC25A52	147407	broad.mit.edu	37	18	29340603	29340603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr18:29340603C>A	ENST00000269205.5	-	1	240	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	SLC25A52_ENST00000579441.2_Nonsense_Mutation_p.E8*	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	8					transport	integral to membrane|mitochondrial inner membrane		p.E8*(1)|p.E18*(1)									GGCCTCTTTTCATGAGCTTCT	0.398000													35	206					6.05902e-23	1.06455e-22	0.003755	1	0
DDR2	4921	broad.mit.edu	37	1	162748381	162748381	+	Silent	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:162748381T>A	ENST00000367922.2	+	18	2733	c.2295T>A	c.(2293-2295)acT>acA	p.T765T	DDR2_ENST00000367921.3_Silent_p.T765T	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	765	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.T765T(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCAAGTTCACTACAGCAAGTG	0.418000													56	317					0	0	0.003610	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	139					0	0	0.000602	0	0
CNTF	1270	broad.mit.edu	37	11	58391556	58391556	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:58391556G>T	ENST00000361987.4	+	2	244	c.164G>T	c.(163-165)gGg>gTg	p.G55V	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	55					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	p.G55V(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCTGCGGATGGGATGCCAGTG	0.532000													20	72					1.56452e-12	2.29221e-12	0.007413	1	0
SMU1	55234	broad.mit.edu	37	9	33073725	33073725	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:33073725C>G	ENST00000397149.3	-	2	156	c.106G>C	c.(106-108)Gtg>Ctg	p.V36L	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	36	LisH.					cytoplasm|nucleus		p.V36L(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TTCAGAGACACAGTAGTCTCC	0.453000													17	110					0	0	0.004990	0	0
OR52I2	143502	broad.mit.edu	37	11	4608223	4608223	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:4608223C>A	ENST00000312614.4	+	1	203	c.181C>A	c.(181-183)Ctg>Atg	p.L61M		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L61M(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTATCTCACTGAGTGCCAT	0.502000													52	237					8.28887e-21	1.43349e-20	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766327	77766327	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:77766327C>A	ENST00000521891.2	+	10	7618	c.7170C>A	c.(7168-7170)ccC>ccA	p.P2390P	ZFHX4_ENST00000455469.2_Silent_p.P2345P|ZFHX4_ENST00000050961.6_Silent_p.P2345P|ZFHX4_ENST00000518282.1_Silent_p.P2364P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2345	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2374P(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)			CCAGCACCCCCCTGATTCCAT	0.527000										HNSCC(33;0.089)			28	104					1.42536e-11	2.02768e-11	0.004656	1	0
PPFIA1	8500	broad.mit.edu	37	11	70118299	70118299	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:70118299G>T	ENST00000253925.7	+	2	236	c.21G>T	c.(19-21)ccG>ccT	p.P7P	PPFIA1_ENST00000389547.3_Silent_p.P7P	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	7					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.P7P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGGTGATGCCGACCATCAGCG	0.498000													63	291					2.01871e-26	3.67873e-26	0.003610	1	0
ZNF208	7757	broad.mit.edu	37	19	22157392	22157392	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:22157392G>T	ENST00000397126.4	-	4	592	c.444C>A	c.(442-444)ggC>ggA	p.G148G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G148G(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCATATTTGCCACGTTGAA	0.333000													7	23					2.7689e-08	3.60202e-08	0.001984	1	0
ZNF425	155054	broad.mit.edu	37	7	148815345	148815345	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:148815345C>T	ENST00000378061.2	-	2	246	c.114G>A	c.(112-114)atG>atA	p.M38I		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	38	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AATTGGTCTTCATCTCTTGCT	0.428000													9	398					0	0	0.008291	0	0
CCDC132	55610	broad.mit.edu	37	7	92921085	92921085	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:92921085G>T	ENST00000544910.1	+	14	1143	c.923G>T	c.(922-924)aGc>aTc	p.S308I	CCDC132_ENST00000535481.1_Missense_Mutation_p.S58I|CCDC132_ENST00000317751.6_Missense_Mutation_p.S69I|CCDC132_ENST00000541136.1_Missense_Mutation_p.S149I|CCDC132_ENST00000305866.5_Missense_Mutation_p.S338I	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	338								p.S338I(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTATGCTCAGCTATTATAGG	0.353000													6	20					0.00198382	0.00213381	0.001984	1	0
ABCG8	64241	broad.mit.edu	37	2	44079961	44079961	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:44079961C>A	ENST00000272286.2	+	6	1008	c.918C>A	c.(916-918)gcC>gcA	p.A306A		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	306	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.A306A(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTTCACAGCCATCGGCTACC	0.602000													6	150					0.000274275	0.000304673	0.004482	1	0
TMEM132D	121256	broad.mit.edu	37	12	129566310	129566310	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:129566310G>T	ENST00000422113.2	-	7	2243	c.1917C>A	c.(1915-1917)acC>acA	p.T639T	TMEM132D_ENST00000389441.4_Silent_p.T177T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	639						integral to membrane		p.T639T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTACCTGAATGGTGGTCATCC	0.493000													11	67					3.86212e-05	4.38968e-05	0.008291	1	0
TTC13	79573	broad.mit.edu	37	1	231052046	231052046	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:231052046C>A	ENST00000366661.4	-	18	1993	c.1986G>T	c.(1984-1986)caG>caT	p.Q662H	TTC13_ENST00000414259.1_Missense_Mutation_p.Q609H|TTC13_ENST00000366662.4_Splice_Site	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	662							binding	p.Q662H(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TAGTATTAAACTGCTTTCAGG	0.393000													31	175					1.55811e-20	2.66328e-20	0.008361	1	0
GRIN2A	2903	broad.mit.edu	37	16	10031897	10031897	+	Missense_Mutation	SNP	T	T	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr16:10031897T>G	ENST00000396573.2	-	4	1235	c.926A>C	c.(925-927)aAg>aCg	p.K309T	GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	309					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.K309T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTAGGAGAACTTCTCCAGCAT	0.572000													7	58					0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13885124	13885124	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:13885124T>A	ENST00000265104.4	-	19	3061	c.2957A>T	c.(2956-2958)cAt>cTt	p.H986L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	986	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.H986L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGAGAGGAATGAATACGTTT	0.443000									Kartagener syndrome				25	196					0	0	0.005443	0	0
RDH8	50700	broad.mit.edu	37	19	10132321	10132321	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:10132321G>T	ENST00000591589.1	+	6	1081	c.892G>T	c.(892-894)Gtg>Ttg	p.V298L	RDH8_ENST00000171214.1_Missense_Mutation_p.V278L			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	278					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	p.V278L(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CAGCCTGTATGTGCGAACGAC	0.637000													31	66					4.14481e-20	7.0033e-20	0.006230	1	0
NTF3	4908	broad.mit.edu	37	12	5603704	5603704	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:5603704C>A	ENST00000423158.3	+	2	575	c.363C>A	c.(361-363)gaC>gaA	p.D121E	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.D108E	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	108					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.D108E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGCTGAGCGACAGCACCCCCT	0.627000													28	120					1.7367e-05	2.0208e-05	0.006320	1	0
HAVCR1	26762	broad.mit.edu	37	5	156469690	156469690	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:156469690C>A	ENST00000339252.3	-	5	1317	c.785G>T	c.(784-786)gGg>gTg	p.G262V	HAVCR1_ENST00000425854.1_Missense_Mutation_p.G262V|HAVCR1_ENST00000523175.1_Missense_Mutation_p.G262V|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.G262V|HAVCR1_ENST00000544197.1_Missense_Mutation_p.G262V	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	257					interspecies interaction between organisms	integral to membrane	receptor activity	p.G262V(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGTCATTCCCATCTACTCA	0.343000													33	91					6.97489e-18	1.13503e-17	0.004878	1	0
FBXO10	26267	broad.mit.edu	37	9	37516063	37516063	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:37516063T>A	ENST00000432825.2	-	10	2582	c.2534A>T	c.(2533-2535)cAc>cTc	p.H845L	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.H370L	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	845						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.H851L(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCGGAACGAGTGGATCCGGTT	0.552000													21	70					0	0	0.001882	0	0
ALPL	249	broad.mit.edu	37	1	21902329	21902329	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:21902329C>A	ENST00000374840.3	+	10	1351	c.1101C>A	c.(1099-1101)tcC>tcA	p.S367S	ALPL_ENST00000539907.1_Silent_p.S290S|ALPL_ENST00000374832.1_Silent_p.S367S|ALPL_ENST00000540617.1_Silent_p.S312S|ALPL_ENST00000374829.1_Silent_p.S13S|ALPL_ENST00000374830.1_Silent_p.S13S|ALPL_ENST00000425315.2_Silent_p.S367S	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	367					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.S367S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GCTTGACCTCCTCGGAAGACA	0.597000													62	297					9.55688e-25	1.70631e-24	0.003610	1	0
PDE10A	10846	broad.mit.edu	37	6	165808673	165808673	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:165808673G>C	ENST00000366882.1	-	16	1626	c.1472C>G	c.(1471-1473)tCc>tGc	p.S491C	PDE10A_ENST00000354448.4_Missense_Mutation_p.S491C|PDE10A_ENST00000539869.2_Missense_Mutation_p.S501C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	491					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.S491C(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCATACCAGGATGTCCCACA	0.373000													5	27					0	0	0.001168	0	0
KRT82	3888	broad.mit.edu	37	12	52793777	52793777	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:52793777G>T	ENST00000257974.2	-	5	1011	c.934C>A	c.(934-936)Cag>Aag	p.Q312K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	312	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis	p.Q312K(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ACCCGGCACTGGTACCAGGCC	0.642000													26	113					8.16721e-17	1.30972e-16	0.002096	1	0
GORAB	92344	broad.mit.edu	37	1	170508612	170508612	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:170508612A>G	ENST00000367763.3	+	2	418	c.398A>G	c.(397-399)aAg>aGg	p.K133R	GORAB_ENST00000367762.1_Missense_Mutation_p.K133R|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	133						Golgi apparatus|nucleus		p.K133R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTCAGCCAAAGGAACTGGGA	0.443000													22	50					0	0	0.002299	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458658	53458658	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:53458658C>A	ENST00000331173.4	-	1	697	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	218					mRNA processing	nucleus	nucleotide binding|RNA binding	p.G218C(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		AGCccagggccagggccaggg	0.542000													11	51					1.58986e-06	1.93682e-06	0.008291	1	0
LINC00518	221718	broad.mit.edu	37	6	10430114	10430114	+	RNA	SNP	T	T	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:10430114T>G	ENST00000496285.1	-	0	921					NR_027793.1																						TATACAGCATTCGCAGGTTAG	0.458000											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	154					0	0	0.003610	0	0
OR4A16	81327	broad.mit.edu	37	11	55111191	55111191	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:55111191T>C	ENST00000314721.2	+	1	565	c.515T>C	c.(514-516)aTt>aCt	p.I172T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I172T(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCCAATGTTATTGACCACTCT	0.448000													46	128					0	0	0.003610	0	0
SPATA5	166378	broad.mit.edu	37	4	123850195	123850195	+	Splice_Site	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:123850195G>T	ENST00000274008.3	+	3	358	c.288_splice	c.e3-1	p.V97_splice	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	97					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.V97L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGTCTGGCAGGTGTATACAGC	0.423000													4	22					3.07112e-06	3.67036e-06	0.000978	1	0
PREX1	57580	broad.mit.edu	37	20	47292735	47292735	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr20:47292735G>A	ENST00000396220.1	-	14	1683	c.1661C>T	c.(1660-1662)gCt>gTt	p.A554V	PREX1_ENST00000371941.3_Missense_Mutation_p.A554V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	554	DEP 2.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.A554V(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCACCTGAGCCAGCAGCCA	0.517000													29	188					0	0	0.002096	0	0
ANO4	121601	broad.mit.edu	37	12	101436171	101436171	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:101436171T>A	ENST00000392979.3	+	11	1335	c.974T>A	c.(973-975)aTg>aAg	p.M325K	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.M360K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	360						chloride channel complex	chloride channel activity	p.M325K(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TACACCGGCATGCTCTTCCCA	0.488000										HNSCC(74;0.22)			25	90					0	0	0.004656	0	0
PADI6	353238	broad.mit.edu	37	1	17723626	17723626	+	RNA	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:17723626G>C	ENST00000434762.2	+	0	1729							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.E559Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAAGCAGAATGAATACGTGGA	0.567000													11	45					0	0	0.001855	0	0
C6orf118	168090	broad.mit.edu	37	6	165715670	165715670	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:165715670C>A	ENST00000230301.8	-	2	161	c.141G>T	c.(139-141)cgG>cgT	p.R47R	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	47								p.R47R(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTTCTGAAGCCGATTCAGAA	0.547000													51	117					1.35964e-18	2.229e-18	0.003610	1	0
CUL2	8453	broad.mit.edu	37	10	35333791	35333791	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:35333791C>A	ENST00000374748.1	-	8	825	c.512G>T	c.(511-513)cGt>cTt	p.R171L	CUL2_ENST00000374751.3_Missense_Mutation_p.R171L|CUL2_ENST00000374746.1_Missense_Mutation_p.R171L|CUL2_ENST00000374749.3_Missense_Mutation_p.R171L|CUL2_ENST00000537177.1_Missense_Mutation_p.R190L|CUL2_ENST00000602371.1_Missense_Mutation_p.R114L|CUL2_ENST00000374742.1_Missense_Mutation_p.R171L			Q13617	CUL2_HUMAN	cullin 2	171					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.R171L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTCTCCACCACGATCACTAAA	0.333000													11	66					9.70103e-10	1.32451e-09	0.008291	1	0
GPC2	221914	broad.mit.edu	37	7	99773222	99773222	+	Silent	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:99773222C>G	ENST00000292377.2	-	3	788	c.621G>C	c.(619-621)ggG>ggC	p.G207G		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	207						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.G207G(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGTGAGTCCCCAAAGGGCT	0.622000													6	31					0	0	0.001984	0	0
MYT1L	23040	broad.mit.edu	37	2	1926245	1926245	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:1926245G>T	ENST00000399161.2	-	10	2043	c.1296C>A	c.(1294-1296)acC>acA	p.T432T	MYT1L_ENST00000428368.2_Silent_p.T432T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	432					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T432T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCTCCAGCAGGGTCAGGTTCC	0.547000													43	163					2.95478e-19	4.93582e-19	0.008740	1	0
MMP13	4322	broad.mit.edu	37	11	102818698	102818698	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:102818698T>C	ENST00000260302.3	-	8	1161	c.1133A>G	c.(1132-1134)gAa>gGa	p.E378G	MMP13_ENST00000340273.4_Missense_Mutation_p.E378G	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	378					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.E378G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTTCTTAACTTCTTTTGGAAG	0.413000													6	72					0	0	0.001168	0	0
C1orf94	84970	broad.mit.edu	37	1	34663245	34663245	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:34663245C>A	ENST00000488417.1	+	2	860	c.740C>A	c.(739-741)tCc>tAc	p.S247Y	C1orf94_ENST00000373374.3_Missense_Mutation_p.S57Y	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	57							protein binding	p.S57Y(1)|p.S247Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCACTGAAGTCCACTGAGACA	0.562000													22	98					3.62473e-10	4.97977e-10	0.001882	1	0
NRXN2	9379	broad.mit.edu	37	11	64390552	64390552	+	Splice_Site	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:64390552T>A	ENST00000265459.6	-	21	4309		c.e21-2		NRXN2_ENST00000377551.1_Splice_Site|NRXN2_ENST00000409571.1_Splice_Site|NRXN2_ENST00000301894.2_Splice_Site|NRXN2_ENST00000377559.3_Splice_Site	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2						cell adhesion	integral to membrane	metal ion binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCTGGCGGCCTTGCaggagtg	0.612000													4	15					0	0	0.009096	0	0
AMER3	205147	broad.mit.edu	37	2	131519727	131519727	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:131519727G>T	ENST00000423981.1	+	2	192	c.82G>T	c.(82-84)Gct>Tct	p.A28S	AMER3_ENST00000321420.4_Missense_Mutation_p.A28S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.A28S(1)									AGCAGCCGTGGCTGCAGCCAG	0.642000													3	19					1.06961e-07	1.37122e-07	0.003080	1	0
PMS1	5378	broad.mit.edu	37	2	190719014	190719014	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:190719014C>T	ENST00000441310.2	+	9	1249	c.1016C>T	c.(1015-1017)cCa>cTa	p.P339L	PMS1_ENST00000409823.3_Missense_Mutation_p.P300L|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.P339L|PMS1_ENST00000418224.3_Missense_Mutation_p.P163L|PMS1_ENST00000432292.3_Missense_Mutation_p.P163L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	339					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.P339L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGTTATGGACCATTACCTAGT	0.294000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					4	29					0	0	0.009096	0	0
IGHG2	3501	broad.mit.edu	37	14	106110952	106110952	+	RNA	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:106110952G>T	ENST00000390545.2	-	0	175																											GAGTCCTGAGGACTGTAGGAC	0.622000													9	98					2.17888e-05	2.51541e-05	0.006214	1	0
SPTA1	6708	broad.mit.edu	37	1	158636191	158636191	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:158636191G>C	ENST00000368148.3	-	16	2315	c.2135C>G	c.(2134-2136)tCt>tGt	p.S712C	SPTA1_ENST00000368147.3_Missense_Mutation_p.S712C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	712					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S712C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATAATCCTCAGAGGTGACTTG	0.542000													13	33					0	0	0.001368	0	0
ANKRD54	129138	broad.mit.edu	37	22	38229004	38229004	+	Silent	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr22:38229004A>G	ENST00000215941.4	-	6	873	c.681T>C	c.(679-681)caT>caC	p.H227H	ANKRD54_ENST00000411961.2_Silent_p.H211H|ANKRD54_ENST00000406423.1_Silent_p.H107H|ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	227								p.H227H(1)		lung(1)	1	Melanoma(58;0.045)					GGCACTGGGCATGGCCCTCCT	0.622000													27	82					0	0	0.003271	0	0
IGFBP6	3489	broad.mit.edu	37	12	53494882	53494882	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:53494882C>A	ENST00000548547.1	+	3	814	c.532C>A	c.(532-534)Cga>Aga	p.R178R	IGFBP6_ENST00000301464.3_Silent_p.R180R|IGFBP6_ENST00000549628.1_3'UTR			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	180	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction			p.R180R(1)		large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						TGAGGTCTACCGAGGGGCTCA	0.572000													25	113					1.2476e-16	1.99345e-16	0.006320	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798258	55798258	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:55798258C>T	ENST00000313555.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	122			R -> L (in dbSNP:rs12224086).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(3)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGCTTATGACCGCTATGCAGC	0.458000													7	44					0	0	0.003080	0	0
PADI6	353238	broad.mit.edu	37	1	17723578	17723578	+	RNA	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:17723578A>G	ENST00000434762.2	+	0	1681							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.K543E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGGAAGCCAAAACCATCGA	0.587000													6	37					0	0	0.001984	0	0
RBM15	64783	broad.mit.edu	37	1	110882449	110882449	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:110882449G>T	ENST00000369784.3	+	1	1322	c.422G>T	c.(421-423)cGc>cTc	p.R141L	RBM15_ENST00000602849.1_Missense_Mutation_p.R141L|RBM15_ENST00000487146.2_Missense_Mutation_p.R141L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	141	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.R141L(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGAATCGCGCAGCAGCTCC	0.652000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	52					0.00188189	0.0020341	0.001882	1	0
TTN	7273	broad.mit.edu	37	2	179449825	179449825	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:179449825G>T	ENST00000589042.1	-	309	64870	c.64646C>A	c.(64645-64647)aCt>aAt	p.T21549N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T12484N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T12609N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18981N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T19908N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T12676N|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19908	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18979N(1)|p.T12484N(1)|p.T12609N(1)|p.T18981N(1)|p.T12676N(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)			GATTTTCTGAGTGTCTGTCCC	0.373000													69	328					4.98926e-31	9.20612e-31	0.003610	1	0
SERPINB3	6317	broad.mit.edu	37	18	61323052	61323052	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr18:61323052C>G	ENST00000283752.5	-	8	1155	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	SERPINB3_ENST00000332821.8_Missense_Mutation_p.E286Q|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	338					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.E338Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTCCCTCCTCTGTAACCTCC	0.517000													11	50					0	0	0.003163	0	0
BTBD11	121551	broad.mit.edu	37	12	107914368	107914368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:107914368G>T	ENST00000280758.5	+	2	1768	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*	BTBD11_ENST00000490090.2_Nonsense_Mutation_p.E414*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.E414*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	414						integral to membrane	DNA binding	p.E414*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGGACCATCGAGCAGTCTTT	0.557000													26	109					7.41945e-09	9.88513e-09	0.005443	1	0
OR4K17	390436	broad.mit.edu	37	14	20586080	20586080	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:20586080G>A	ENST00000315543.4	+	1	515	c.515G>A	c.(514-516)tGt>tAt	p.C172Y		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C172Y(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AAGAAGGTATGTGTTTTGCTT	0.463000													16	110					0	0	0.004007	0	0
OR2T33	391195	broad.mit.edu	37	1	248436623	248436623	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:248436623G>T	ENST00000318021.2	-	1	515	c.494C>A	c.(493-495)cCa>cAa	p.P165Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P165Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCACAATATGGGAAGCTCAG	0.562000													19	133					2.4624e-09	3.32085e-09	0.008871	1	0
VPS13C	54832	broad.mit.edu	37	15	62174899	62174899	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr15:62174899G>T	ENST00000261517.5	-	69	9593	c.9520C>A	c.(9520-9522)Cct>Act	p.P3174T	VPS13C_ENST00000249837.3_Missense_Mutation_p.P3131T|VPS13C_ENST00000395898.3_Missense_Mutation_p.P3131T|VPS13C_ENST00000395896.4_Missense_Mutation_p.P3174T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3174					protein localization			p.P3174T(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTACGAATAGGGAGGCGCATT	0.373000													20	57					7.92952e-12	1.13906e-11	0.003954	1	0
RGS14	10636	broad.mit.edu	37	5	176799028	176799028	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:176799028C>T	ENST00000408923.3	+	15	1841	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	551					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	p.A551A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATCAGCAGCCCAGCCCATCG	0.627000													11	510					0	0	0.008291	0	0
GPR50	9248	broad.mit.edu	37	X	150348520	150348520	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:150348520G>T	ENST00000218316.3	+	2	534	c.465G>T	c.(463-465)atG>atT	p.M155I		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	155					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.M155I(3)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGATCATGACCGTCCTGG	0.517000													64	80					2.50483e-33	4.6413e-33	0.003610	1	0
OR56A3	390083	broad.mit.edu	37	11	5969347	5969347	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:5969347C>A	ENST00000329564.6	+	1	778	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T257T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCAGCACCATCCTTCTGG	0.527000													51	204					9.55421e-19	1.57805e-18	0.003610	1	0
FAT3	120114	broad.mit.edu	37	11	92086706	92086706	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:92086706G>T	ENST00000298047.6	+	1	1445	c.1428G>T	c.(1426-1428)ctG>ctT	p.L476L	FAT3_ENST00000541502.1_Silent_p.L476L|FAT3_ENST00000525166.1_Silent_p.L326L|FAT3_ENST00000409404.2_Silent_p.L476L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	476	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L476L(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)				AGCAACCACTGTATGATGCTT	0.418000										TCGA Ovarian(4;0.039)			7	22					0.000442599	0.000487966	0.006214	1	0
PALD1	27143	broad.mit.edu	37	10	72291088	72291088	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:72291088C>A	ENST00000263563.6	+	5	779	c.511C>A	c.(511-513)Ctg>Atg	p.L171M		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.L171M(1)									TGTGCTTTTCCTGCGTGCAGA	0.587000													43	180					3.05275e-18	4.98615e-18	0.003214	1	0
ENSA	2029	broad.mit.edu	37	1	150601933	150601933	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:150601933T>C	ENST00000271690.8	-	1	120	c.14A>G	c.(13-15)cAa>cGa	p.Q5R	ENSA_ENST00000369009.3_Missense_Mutation_p.Q5R|ENSA_ENST00000369016.4_Missense_Mutation_p.Q5R|ENSA_ENST00000369014.5_Missense_Mutation_p.Q5R|ENSA_ENST00000362052.7_Missense_Mutation_p.Q5R|ENSA_ENST00000356527.5_Missense_Mutation_p.Q5R|ENSA_ENST00000503241.1_Missense_Mutation_p.Q5R|ENSA_ENST00000503345.1_Missense_Mutation_p.Q5R|ENSA_ENST00000339643.5_Missense_Mutation_p.Q5R	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	5				Q -> R (in Ref. 8; CAG38815).	cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	p.Q5R(2)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTTCTTCTTGTTTCTGGGA	0.662000													16	126					0	0	0.007291	0	0
PKP2	5318	broad.mit.edu	37	12	32949210	32949210	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:32949210C>G	ENST00000340811.4	-	11	2298	c.2190G>C	c.(2188-2190)ttG>ttC	p.L730F	PKP2_ENST00000070846.6_Missense_Mutation_p.L774F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	774					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.L774F(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGATGGAAACCAAATCAGGGA	0.363000													11	66					0	0	0.000978	0	0
LRP1B	53353	broad.mit.edu	37	2	141643727	141643727	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:141643727C>T	ENST00000389484.3	-	24	4915	c.3944G>A	c.(3943-3945)gGa>gAa	p.G1315E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1315					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G1315E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAAGCTTTCCCCGGTATAT	0.303000										TSP Lung(27;0.18)			6	47					0	0	0.001168	0	0
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:16640580T>C	ENST00000546361.2	-	8	1159	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	336	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667000													2	7					0	0	0.004672	0	0
INTU	27152	broad.mit.edu	37	4	128637582	128637582	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:128637582A>T	ENST00000335251.5	+	16	2923	c.2820A>T	c.(2818-2820)ttA>ttT	p.L940F		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	940								p.L940F(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTTTGGGTTAACCTTGTAGC	0.363000													10	36					0	0	0.000978	0	0
SLC11A2	4891	broad.mit.edu	37	12	51382191	51382191	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:51382191T>C	ENST00000394904.3	-	16	1739	c.1690A>G	c.(1690-1692)Atg>Gtg	p.M564V	SLC11A2_ENST00000545993.2_Missense_Mutation_p.M531V|SLC11A2_ENST00000262051.7_Missense_Mutation_p.M535V|SLC11A2_ENST00000262052.5_Missense_Mutation_p.M535V|SLC11A2_ENST00000547198.1_Missense_Mutation_p.M535V|SLC11A2_ENST00000546743.1_Missense_Mutation_p.M456V|SLC11A2_ENST00000541174.2_Missense_Mutation_p.M535V|SLC11A2_ENST00000547688.1_Missense_Mutation_p.M564V	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	535					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	p.M535V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGGAAGGACATGCCCAGTGCA	0.483000													21	71					0	0	0.001882	0	0
RELN	5649	broad.mit.edu	37	7	103193923	103193923	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:103193923G>A	ENST00000424685.2	-	40	6216	c.6057C>T	c.(6055-6057)acC>acT	p.T2019T	RELN_ENST00000343529.5_Silent_p.T2019T|RELN_ENST00000428762.1_Silent_p.T2019T			P78509	RELN_HUMAN	reelin	2019					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.T2019T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGTATGATGGTGTTCTCAT	0.348000													26	79					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179429587	179429587	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:179429587A>G	ENST00000589042.1	-	326	81496	c.81272T>C	c.(81271-81273)gTg>gCg	p.V27091A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18026A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18151A|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24523A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25450A|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18218A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25450	Fibronectin type-III 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V24521A(1)|p.V24523A(1)|p.V18026A(1)|p.V18218A(1)|p.V18151A(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)			ATGCCATTGCACAAGCATCTG	0.388000													16	64					0	0	0.004007	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206297	71206297	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:71206297G>A	ENST00000272421.6	+	2	507	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000360589.3_Missense_Mutation_p.A81T|ANKRD53_ENST00000457410.1_Intron|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	81								p.A81T(2)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GCGCCGCCCTGCCTCGCTCAC	0.726000													11	122					0	0	0.008291	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846409	47846409	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:47846409A>T	ENST00000339488.4	-	3	2204	c.2171T>A	c.(2170-2172)tTc>tAc	p.F724Y		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	724						integral to membrane	hedgehog receptor activity	p.F724Y(1)									GTCAATGGCGAAATTCAAGGT	0.448000													14	38					0	0	0.002450	0	0
SRPK2	6733	broad.mit.edu	37	7	104767464	104767464	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:104767464C>A	ENST00000357311.3	-	13	1936	c.1765G>T	c.(1765-1767)Ggg>Tgg	p.G589W	SRPK2_ENST00000489828.1_Missense_Mutation_p.G589W|SRPK2_ENST00000393651.3_Missense_Mutation_p.G600W	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	589	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G589W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TAGTCTTCCCCAGAATGTGGT	0.478000													18	166					1.26454e-06	1.55338e-06	0.005443	1	0
MYO19	80179	broad.mit.edu	37	17	34859855	34859855	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:34859855C>A	ENST00000431794.3	-	20	2433	c.1911G>T	c.(1909-1911)ctG>ctT	p.L637L	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	637	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	p.L637L(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCAGCTGGCTCAGGACCTGCA	0.632000													4	13					0.00024832	0.000277942	0.009096	1	0
DSG4	147409	broad.mit.edu	37	18	28979469	28979469	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr18:28979469A>G	ENST00000359747.4	+	9	1269	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	DSG4_ENST00000308128.4_Missense_Mutation_p.I414V|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	414	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.I414V(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)			ATATACAGCCATAGATTTGGA	0.408000													16	68					0	0	0.004007	0	0
PDE6C	5146	broad.mit.edu	37	10	95394518	95394518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:95394518G>T	ENST00000371447.3	+	9	1261	c.1123G>T	c.(1123-1125)Gga>Tga	p.G375*		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	375	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.G375*(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTTGTAGAAAGGACCTGTAGA	0.353000													12	58					1.08611e-07	1.38833e-07	0.000978	1	0
OR5H2	79310	broad.mit.edu	37	3	98002178	98002178	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:98002178G>T	ENST00000355273.2	+	1	447	c.447G>T	c.(445-447)ctG>ctT	p.L149L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L149L(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GCATACGGCTGTTAGCCTTCT	0.353000													10	35					2.17888e-05	2.51541e-05	0.006214	1	0
EXOC3	11336	broad.mit.edu	37	5	458042	458042	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:458042G>C	ENST00000512944.1	+	6	1381	c.1192G>C	c.(1192-1194)Gcg>Ccg	p.A398P	EXOC3_ENST00000315013.5_Missense_Mutation_p.A398P	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	409					exocytosis|protein transport			p.A398P(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCTGCGGAAAGCGCTGGAGAC	0.527000													5	24					0	0	0.001984	0	0
ZNF845	91664	broad.mit.edu	37	19	53855116	53855116	+	Silent	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:53855116A>T	ENST00000458035.1	+	4	1305	c.1188A>T	c.(1186-1188)tcA>tcT	p.S396S	ZNF845_ENST00000595091.1_Silent_p.S396S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S396S(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTCGGAAGTCATCCCTTACAC	0.403000													7	98					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9048356	9048356	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:9048356G>T	ENST00000397910.4	-	5	33478	c.33275C>A	c.(33274-33276)cCt>cAt	p.P11092H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11094	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P6725H(1)|p.P11092H(1)		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						TGATACCCCAGGTGAAACAGT	0.502000													17	69					1.67942e-08	2.21743e-08	0.006122	1	0
USP1	7398	broad.mit.edu	37	1	62913035	62913035	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:62913035C>G	ENST00000339950.4	+	7	2088	c.1273C>G	c.(1273-1275)Cta>Gta	p.L425V	USP1_ENST00000371146.1_Missense_Mutation_p.L425V	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	425					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L425V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGGTTTTGAGCTAGTGGAGAA	0.323000													3	91					0	0	0.004672	0	0
GRM7	2917	broad.mit.edu	37	3	7620535	7620535	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:7620535G>A	ENST00000486284.1	+	8	2216	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T	GRM7_ENST00000403881.1_Missense_Mutation_p.A648T|GRM7_ENST00000357716.4_Missense_Mutation_p.A648T|GRM7_ENST00000389336.4_Missense_Mutation_p.A648T|GRM7_ENST00000402647.2_Missense_Mutation_p.A648T|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	648					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.A648T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCTGATGATTGCCAAACCAGA	0.478000													12	191					0	0	0.001855	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455094	84455094	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr13:84455094G>C	ENST00000377084.2	-	1	1434	c.549C>G	c.(547-549)gaC>gaG	p.D183E		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	183						integral to membrane		p.D183E(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TACCCCGGAGGTCGAGGTGGG	0.527000													26	119					0	0	0.005443	0	0
SSPO	23145	broad.mit.edu	37	7	149475980	149475980	+	RNA	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:149475980T>A	ENST00000378016.2	+	0	946							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)			CCACGAGCTCTGGGGACAGAC	0.622000													35	189					0	0	0.007835	0	0
LGALS13	29124	broad.mit.edu	37	19	40097972	40097972	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:40097972G>T	ENST00000221797.4	+	4	458	c.413G>T	c.(412-414)tGc>tTc	p.C138F		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	138	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	p.C138F(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GTGTGTGTCTGCAATTGAGGG	0.478000													23	60					3.6726e-16	5.82596e-16	0.003954	1	0
C4orf21	55345	broad.mit.edu	37	4	113541279	113541279	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:113541279C>A	ENST00000505019.1	-	5	355	c.230G>T	c.(229-231)gGa>gTa	p.G77V	C4orf21_ENST00000445203.2_Missense_Mutation_p.G46V|C4orf21_ENST00000309071.5_Missense_Mutation_p.G77V	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	77								p.G77V(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACCTATGGCTCCAGCAACTTT	0.383000													10	67					5.50884e-06	6.56594e-06	0.001368	1	0
ATP7A	538	broad.mit.edu	37	X	77254174	77254174	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:77254174G>T	ENST00000341514.6	+	5	1691	c.1536G>T	c.(1534-1536)cgG>cgT	p.R512R	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.R512R	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	512	HMA 5.				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.R512R(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						ATTTAAGGCGGGAAGAAGGTG	0.393000													17	56					3.32936e-07	4.20701e-07	0.006122	1	0
ZNF143	7702	broad.mit.edu	37	11	9534020	9534020	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:9534020G>T	ENST00000396602.2	+	13	1520	c.1401G>T	c.(1399-1401)ggG>ggT	p.G467G	ZNF143_ENST00000299606.2_Silent_p.G439G|ZNF143_ENST00000396604.1_Silent_p.G466G|ZNF143_ENST00000530463.1_Silent_p.G466G|ZNF143_ENST00000396597.3_Silent_p.G436G	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	467					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	p.G467G(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TTCTTAAAGGGTCCCAGATTA	0.363000													48	194					5.39261e-20	9.07688e-20	0.003610	1	0
ASPH	444	broad.mit.edu	37	8	62580819	62580819	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:62580819A>C	ENST00000389204.4	-	5	381	c.296T>G	c.(295-297)gTa>gGa	p.V99G	ASPH_ENST00000517847.2_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.V84G|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000522835.1_Intron	NM_020164.4	NP_064549.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	109					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	p.V99G(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCTCTTGGCTACCCCACTGGG	0.303000													2	9					0	0	0.004672	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457421	110457421	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:110457421G>C	ENST00000378402.5	+	38	5427	c.5323G>C	c.(5323-5325)Gtt>Ctt	p.V1775L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1775	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V1777L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGGGACTGTTTTGGAGGA	0.403000										HNSCC(38;0.096)			5	56					0	0	0.001168	0	0
GORAB	92344	broad.mit.edu	37	1	170513848	170513848	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:170513848C>T	ENST00000367763.3	+	4	619	c.599C>T	c.(598-600)tCc>tTc	p.S200F	GORAB_ENST00000367762.1_Missense_Mutation_p.S200F	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	200						Golgi apparatus|nucleus		p.S200F(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTTCTAGATCCAAAAGAACT	0.383000													9	84					0	0	0.004482	0	0
SHOX2	6474	broad.mit.edu	37	3	157815836	157815836	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:157815836C>T	ENST00000490689.2	-	5	2086	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	SHOX2_ENST00000389589.4_Missense_Mutation_p.A350T|SHOX2_ENST00000441443.2_Missense_Mutation_p.A185T|SHOX2_ENST00000425436.3_Missense_Mutation_p.A326T|SHOX2_ENST00000483851.2_Missense_Mutation_p.A314T			O60902	SHOX2_HUMAN	short stature homeobox 2	326					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A350T(1)|p.A185T(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)			AGGGCTGCGGCGTGCTTTTTG	0.667000													37	764					0	0	0.003610	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452074	74452074	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:74452074G>T	ENST00000394019.2	-	28	3536	c.3139C>A	c.(3139-3141)Cag>Aag	p.Q1047K	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P987Q|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.Q1063K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Q945K|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Q966K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Q945K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Q1063K|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Q966K	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1063						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.Q1063K(1)|p.Q1047K(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGTCGTGCTGGGAAAAGATG	0.478000													24	159					8.24728e-16	1.29895e-15	0.004656	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590616	140590616	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:140590616C>A	ENST00000239450.2	+	1	2326	c.2137C>A	c.(2137-2139)Ctg>Atg	p.L713M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L376M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		713					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L713M(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)			GGCGGTGCGGCTGTGCAGGAG	0.682000													131	149					2.02395e-77	3.96695e-77	0.003610	1	0
DNPEP	23549	broad.mit.edu	37	2	220251413	220251413	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:220251413C>T	ENST00000273075.4	-	4	527	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	DNPEP_ENST00000523282.1_Missense_Mutation_p.A111T|DNPEP_ENST00000373972.1_Missense_Mutation_p.A28T	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	93					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TCCGTGTGGGCCCCGATGAGG	0.577000													5	30					0	0	0.001168	0	0
FKBP10	60681	broad.mit.edu	37	17	39974501	39974501	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:39974501C>A	ENST00000321562.4	+	3	656	c.552C>A	c.(550-552)acC>acA	p.T184T		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	184	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.T184T(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACAATGGCACCCTGCTGGACG	0.672000													17	74					2.35188e-11	3.31367e-11	0.006122	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106810239	106810239	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:106810239G>A	ENST00000526355.1	-	4	1621	c.1153C>T	c.(1153-1155)Ccg>Tcg	p.P385S	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P385S|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P385S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	385					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.P385S(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ATCACAAACGGGGTAGACAGT	0.458000													14	92					0	0	0.002450	0	0
TM2D2	83877	broad.mit.edu	37	8	38851131	38851131	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:38851131G>A	ENST00000412303.1	-	3	629	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	TM2D2_ENST00000456397.2_Missense_Mutation_p.H122Y|TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456845.2_Missense_Mutation_p.H79Y|TM2D2_ENST00000397070.2_Missense_Mutation_p.H79Y	NM_001024380.1|NM_001024381.1|NM_031940.3	NP_001019551.1|NP_001019552.1|NP_114146.3	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	122						integral to membrane		p.H79Y(1)|p.H122Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TCTAAGGCATGGCACTGGACT	0.453000													4	73					0	0	0.000602	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806979	6806979	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:6806979C>A	ENST00000307401.4	+	1	732	c.711C>A	c.(709-711)gcC>gcA	p.A237A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGAAGAAAGCCCTTGTCACCT	0.498000													23	81					1.50039e-11	2.12756e-11	0.001882	1	0
SP4	6671	broad.mit.edu	37	7	21470206	21470206	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:21470206C>A	ENST00000222584.3	+	3	1641	c.1423C>A	c.(1423-1425)Cag>Aag	p.Q475K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	475					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.Q475K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGTACAGGTTCAGAATATTCA	0.433000													39	348					9.62906e-15	1.48476e-14	0.006230	1	0
SETBP1	26040	broad.mit.edu	37	18	42530189	42530189	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr18:42530189G>T	ENST00000282030.5	+	4	1180	c.884G>T	c.(883-885)aGc>aTc	p.S295I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	295						nucleus	DNA binding	p.S241I(1)|p.S295I(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCCAAGCAGCCACAGCTCA	0.567000									Schinzel-Giedion syndrome				23	79					2.48779e-11	3.48291e-11	0.005443	1	0
GRIA3	2892	broad.mit.edu	37	X	122319800	122319800	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:122319800G>C	ENST00000264357.5	+	2	518	c.226G>C	c.(226-228)Gat>Cat	p.D76H	GRIA3_ENST00000542149.1_Missense_Mutation_p.D76H|GRIA3_ENST00000371264.3_Missense_Mutation_p.D76H|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371266.1_Missense_Mutation_p.D76H|GRIA3_ENST00000371256.5_Missense_Mutation_p.D76H|GRIA3_ENST00000371251.1_Missense_Mutation_p.D76H|GRIA3_ENST00000541091.1_Missense_Mutation_p.D60H	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	76					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.D76H(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTACCACGTAGATCACTTGGA	0.468000													12	63					0	0	0.000978	0	0
PDP1	54704	broad.mit.edu	37	8	94935757	94935757	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:94935757C>T	ENST00000396200.3	+	3	1821	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	PDP1_ENST00000520728.1_Silent_p.N490N|PDP1_ENST00000517764.1_Silent_p.N490N|PDP1_ENST00000297598.4_Silent_p.N490N	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	490					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	p.E491*(1)|p.E516*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TGGGCAACAACGAGTTTGGGA	0.453000													56	135					0	0	0.003610	0	0
LTBP1	4052	broad.mit.edu	37	2	33590483	33590483	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:33590483G>C	ENST00000404816.2	+	31	4977	c.4624G>C	c.(4624-4626)Ggc>Cgc	p.G1542R	LTBP1_ENST00000390003.4_Missense_Mutation_p.G1217R|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1543R|LTBP1_ENST00000272273.5_Missense_Mutation_p.G440R|LTBP1_ENST00000402934.1_Missense_Mutation_p.G1161R|LTBP1_ENST00000407925.1_Missense_Mutation_p.G1216R|LTBP1_ENST00000404525.1_Missense_Mutation_p.G1163R|LTBP1_ENST00000418533.2_Missense_Mutation_p.G1174R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1542	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G1543R(1)|p.G1543S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCCTCTTGTGGGCAAGCAGAC	0.507000													20	91					0	0	0.007413	0	0
MYEOV	26579	broad.mit.edu	37	11	69063537	69063537	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:69063537G>T	ENST00000535407.1	+	2	1089	c.446G>T	c.(445-447)gGg>gTg	p.G149V	MYEOV_ENST00000441339.2_Missense_Mutation_p.G207V|MYEOV_ENST00000308946.3_Missense_Mutation_p.G207V			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	207								p.G207V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		CGCTCACCTGGGCGAGGACTT	0.617000													41	191					1.32136e-16	2.10367e-16	0.008740	1	0
OR4D6	219983	broad.mit.edu	37	11	59224871	59224871	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:59224871G>A	ENST00000300127.2	+	1	461	c.438G>A	c.(436-438)gtG>gtA	p.V146V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V146V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCTTGGTGGTGGCTTCTTGGG	0.507000													31	206					0	0	0.002836	0	0
TP53	7157	broad.mit.edu	37	17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:7578492C>T	ENST00000420246.2	-	5	570	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	146	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).		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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)		TGGAATCAACCCACAGCTGCA	0.602000		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)			32	81					0	0	0.002836	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454311	84454311	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr13:84454311C>A	ENST00000377084.2	-	1	2217	c.1332G>T	c.(1330-1332)gcG>gcT	p.A444A		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	444						integral to membrane		p.A444A(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTTGCAGCCCCGCGAATTTCT	0.507000													48	171					2.24722e-20	3.82635e-20	0.003610	1	0
C12orf40	283461	broad.mit.edu	37	12	40076707	40076707	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:40076707G>T	ENST00000324616.5	+	8	1135	c.981G>T	c.(979-981)atG>atT	p.M327I	C12orf40_ENST00000398716.1_Missense_Mutation_p.M250I|C12orf40_ENST00000405531.3_Missense_Mutation_p.M327I	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	327								p.M327N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGATAGTATGGGAGATACTT	0.308000													7	46					0.00198382	0.00213381	0.001984	1	0
OR9G1	390174	broad.mit.edu	37	11	56468505	56468505	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:56468505G>T	ENST00000312153.1	+	1	642	c.642G>T	c.(640-642)ctG>ctT	p.L214L		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.L214L(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGCTCATCCTGGCCTCCTACC	0.547000													32	221					1.22384e-17	1.96975e-17	0.002836	1	0
SEMA3E	9723	broad.mit.edu	37	7	83016314	83016314	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:83016314C>T	ENST00000307792.3	-	15	2187	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	574					axon guidance	extracellular space|membrane	receptor activity	p.G574R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACTGTTGTCCAAAGCACTGC	0.358000													4	26					0	0	0.009096	0	0
EREG	2069	broad.mit.edu	37	4	75246765	75246765	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:75246765G>A	ENST00000244869.2	+	3	355	c.189G>A	c.(187-189)gtG>gtA	p.V63V		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	63					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.V63V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TGGCTCAAGTGTCAATAACAA	0.398000													31	114					0	0	0.002445	0	0
ARSF	416	broad.mit.edu	37	X	3002330	3002330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:3002330C>A	ENST00000381127.1	+	6	674	c.453C>A	c.(451-453)tgC>tgA	p.C151*	ARSF_ENST00000359361.2_Nonsense_Mutation_p.C151*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.C151*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	151						extracellular region	arylsulfatase activity|metal ion binding	p.C151*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGACCAGTGCCACCATCCAT	0.488000													24	39					1.42536e-11	2.02768e-11	0.004656	1	0
LRRC10	376132	broad.mit.edu	37	12	70004184	70004184	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:70004184G>T	ENST00000361484.3	-	1	758	c.435C>A	c.(433-435)ctC>ctA	p.L145L		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	145						nucleus		p.L145L(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGTCTTAAGGAGACTCAGCT	0.647000													13	72					9.31168e-06	1.09798e-05	0.001855	1	0
DPH1	1801	broad.mit.edu	37	17	1936926	1936926	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:1936926G>T	ENST00000263083.6	+	2	249	c.204G>T	c.(202-204)agG>agT	p.R68S	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	68					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		p.R68S(1)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCATCTGGAGGATCCAACAAG	0.577000													21	113					7.41877e-09	9.88513e-09	0.001882	1	0
RFX4	5992	broad.mit.edu	37	12	107075814	107075814	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:107075814G>T	ENST00000392842.1	+	5	773	c.359G>T	c.(358-360)gGg>gTg	p.G120V	RP11-482D24.2_ENST00000547531.1_RNA|RFX4_ENST00000357881.4_Missense_Mutation_p.G129V|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	120					transcription, DNA-dependent	nucleus	DNA binding	p.G120V(1)|p.G129V(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGAAGACTCGGGACCCGAGGA	0.522000													15	100					4.7546e-09	6.37319e-09	0.004007	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138714662	138714662	+	Silent	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:138714662C>G	ENST00000389532.4	-	11	1909	c.1845G>C	c.(1843-1845)cgG>cgC	p.R615R	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.R337R|CAMSAP1_ENST00000409386.3_Silent_p.R626R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	615						cytoplasm|microtubule		p.R615R(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCCTTCCCCCCGTTCATCCT	0.547000													7	129					0	0	0.003080	0	0
COL15A1	1306	broad.mit.edu	37	9	101807041	101807041	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:101807041C>T	ENST00000375001.3	+	26	3091	c.2668C>T	c.(2668-2670)Cca>Tca	p.P890S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	890	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.P890S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCATGGAGCCCCAGGACCAAT	0.458000													7	42					0	0	0.003080	0	0
EYS	346007	broad.mit.edu	37	6	66205086	66205086	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:66205086G>T	ENST00000503581.1	-	4	755	c.218C>A	c.(217-219)gCt>gAt	p.A73D	EYS_ENST00000370618.3_Missense_Mutation_p.A73D|EYS_ENST00000370616.2_Missense_Mutation_p.A73D|EYS_ENST00000342421.5_Missense_Mutation_p.A73D|EYS_ENST00000370621.3_Missense_Mutation_p.A73D|EYS_ENST00000393380.2_Missense_Mutation_p.A73D	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	73					response to stimulus|visual perception	extracellular region	calcium ion binding	p.A73D(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGGGGAACAGCTTGATTGCC	0.358000													31	96					5.77227e-19	9.60593e-19	0.008361	1	0
CEACAM16	388551	broad.mit.edu	37	19	45206812	45206812	+	Silent	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:45206812T>A	ENST00000587331.1	+	3	446	c.231T>A	c.(229-231)ccT>ccA	p.P77P	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.P77P	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	77								p.P142P(2)		endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				ATGAGACTCCTGGCCCGGCCC	0.662000													9	30					0	0	0.006214	0	0
PSG9	5678	broad.mit.edu	37	19	43763160	43763160	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:43763160G>T	ENST00000418820.2	-	3	656	c.558C>A	c.(556-558)agC>agA	p.S186R	PSG9_ENST00000270077.3_Missense_Mutation_p.S279R|PSG9_ENST00000443718.3_Missense_Mutation_p.S186R|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	186	Ig-like C2-type 1.				female pregnancy	extracellular region		p.S279R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGACGGGGAGGCTCTGACCGT	0.468000													102	379					1.44639e-49	2.79762e-49	0.003610	1	0
CSTA	1475	broad.mit.edu	37	3	122060408	122060408	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:122060408C>T	ENST00000264474.3	+	3	340	c.291C>T	c.(289-291)ggC>ggT	p.G97G		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	97					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	p.G97G(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		AGCTGACGGGCTTTTAGCAGC	0.398000													27	108					0	0	0.009535	0	0
DIP2A	23181	broad.mit.edu	37	21	47954024	47954024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr21:47954024G>T	ENST00000318711.7	+	12	1723	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*	DIP2A_ENST00000457905.3_Nonsense_Mutation_p.E513*|DIP2A_ENST00000435722.3_Nonsense_Mutation_p.E513*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.E509*|DIP2A_ENST00000427143.2_Nonsense_Mutation_p.E449*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.E513*|DIP2A_ENST00000466639.1_Nonsense_Mutation_p.E470*	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	513					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.E514*(1)|p.E449*(1)|p.E513*(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGCCTACATTGAGGTAATGAC	0.468000													5	57					3.59834e-05	4.11105e-05	0.001168	1	0
KCNB1	3745	broad.mit.edu	37	20	47990014	47990014	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr20:47990014G>T	ENST00000371741.4	-	2	2249	c.2083C>A	c.(2083-2085)Ctc>Atc	p.L695I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	695					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.L695I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGGTTCCTGAGAGGGTCATGG	0.567000													16	90					1.64113e-05	1.91466e-05	0.010504	1	0
FLT1	2321	broad.mit.edu	37	13	29005449	29005449	+	Splice_Site	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr13:29005449T>C	ENST00000282397.4	-	7	1065		c.e7-2		FLT1_ENST00000541932.1_Splice_Site|FLT1_ENST00000539099.1_Splice_Site	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTTATTTTTCTAGAAAGAAAA	0.338000													4	25					0	0	0.009096	0	0
SIRPG	55423	broad.mit.edu	37	20	1617103	1617103	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr20:1617103G>T	ENST00000381580.1	-	3	559	c.380C>A	c.(379-381)cCt>cAt	p.P127H	SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.P160H|SIRPG_ENST00000303415.3_Missense_Mutation_p.P160H|SIRPG_ENST00000381583.2_Missense_Mutation_p.P160H|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	160	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.P160H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGTATGCTCAGGTGTGGTCCT	0.517000													28	96					1.62565e-12	2.37388e-12	0.002445	1	0
MSH6	2956	broad.mit.edu	37	2	48032810	48032810	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:48032810G>C	ENST00000234420.4	+	7	3762	c.3610G>C	c.(3610-3612)Gca>Cca	p.A1204P	MSH6_ENST00000538136.1_Missense_Mutation_p.A902P|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.A1074P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1204					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.A1204P(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTCATGCATGCAACAGCACA	0.294000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				26	89					0	0	0.002096	0	0
NID1	4811	broad.mit.edu	37	1	236195839	236195839	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:236195839C>T	ENST00000264187.6	-	6	1481	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R	NID1_ENST00000366595.3_Missense_Mutation_p.G467R	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	467	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G467R(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TAGGAGCGCCCGTGGTTCATT	0.522000													21	103					0	0	0.008871	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99991416	99991416	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:99991416G>T	ENST00000314594.5	+	7	2278	c.181G>T	c.(181-183)Gac>Tac	p.D61Y	R3HCC1L_ENST00000298999.3_Missense_Mutation_p.D645Y|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D645Y|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.D51Y	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like									p.D645Y(1)									TCATACTGAAGACCTTCTACG	0.363000													12	66					4.36969e-10	5.98458e-10	0.001855	1	0
ZNF407	55628	broad.mit.edu	37	18	72346333	72346333	+	Nonsense_Mutation	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr18:72346333A>T	ENST00000299687.5	+	1	3358	c.3358A>T	c.(3358-3360)Aaa>Taa	p.K1120*	ZNF407_ENST00000309902.6_Nonsense_Mutation_p.K1120*|ZNF407_ENST00000577538.1_Nonsense_Mutation_p.K1120*|ZNF407_ENST00000582337.1_Nonsense_Mutation_p.K1120*	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K1120*(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGATACTCTTAAATCTAGAAA	0.353000													7	35					0	0	0.001984	0	0
RDX	5962	broad.mit.edu	37	11	110108242	110108242	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:110108242T>A	ENST00000343115.4	-	11	1545	c.1226A>T	c.(1225-1227)gAc>gTc	p.D409V	RDX_ENST00000528900.1_Missense_Mutation_p.D62V|RDX_ENST00000405097.1_Missense_Mutation_p.D409V|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.D273V|RDX_ENST00000528498.1_Missense_Mutation_p.D409V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	409	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	p.D409V(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTCATCTGGTCGGCAGCTTG	0.403000													24	71					0	0	0.004656	0	0
OR2L8	391190	broad.mit.edu	37	1	248112520	248112520	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:248112520C>T	ENST00000357191.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(2)|p.R121S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			GGCCTATGATCGTTACATTGC	0.443000													46	204					0	0	0.003214	0	0
UFL1	23376	broad.mit.edu	37	6	96973215	96973215	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:96973215G>A	ENST00000369278.4	+	4	361	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	99	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										TAGAATTGGTGACATTATTAA	0.279000													5	120					0	0	0.001984	0	0
MASP1	5648	broad.mit.edu	37	3	186953530	186953530	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:186953530C>A	ENST00000296280.6	-	11	2354	c.2129G>T	c.(2128-2130)tGg>tTg	p.W710L	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.W597L	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	690					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.W710L(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTCCCACACCCAGTCCACGTA	0.597000													8	114					0.000157383	0.000176606	0.003080	1	0
SCN3A	6328	broad.mit.edu	37	2	165986747	165986747	+	Silent	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:165986747A>T	ENST00000360093.3	-	17	3116	c.2625T>A	c.(2623-2625)atT>atA	p.I875I	SCN3A_ENST00000409101.3_Silent_p.I826I|SCN3A_ENST00000283254.7_Silent_p.I875I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	875						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I826I(1)|p.I875I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAGAATTGCCAATGATCTTAA	0.418000													27	105					0	0	0.004656	0	0
ZNF536	9745	broad.mit.edu	37	19	31040159	31040159	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:31040159C>T	ENST00000355537.3	+	4	3780	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1211P(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTGCAGCCCACAGGCACCT	0.602000													13	107					0	0	0.006122	0	0
SLC6A14	11254	broad.mit.edu	37	X	115582710	115582710	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:115582710C>G	ENST00000371900.4	+	8	1122	c.1034C>G	c.(1033-1035)tCt>tGt	p.S345C		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	345					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.S345C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AACTGCTTCTCTGATGCCATT	0.408000													11	46					0	0	0.001368	0	0
ZRANB3	84083	broad.mit.edu	37	2	136261918	136261918	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:136261918C>A	ENST00000401392.1	-	2	354	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S	ZRANB3_ENST00000264159.6_Missense_Mutation_p.A48S|ZRANB3_ENST00000536680.1_Missense_Mutation_p.A48S			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	48	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	p.A48S(1)|p.A48T(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CTTTTGAGGGCAAAAATGATG	0.343000													6	73					0.00116845	0.00126917	0.001168	1	0
FREM1	158326	broad.mit.edu	37	9	14859286	14859286	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:14859286C>A	ENST00000380881.4	-	5	1341	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	FREM1_ENST00000422223.2_Missense_Mutation_p.D176Y|FREM1_ENST00000380880.3_Missense_Mutation_p.D176Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	176					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.D176Y(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCGCAGTGTCCAGGCTGACG	0.527000													18	95					5.03518e-11	6.96086e-11	0.007413	1	0
NGEF	25791	broad.mit.edu	37	2	233834989	233834989	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:233834989G>T	ENST00000264051.3	-	3	596	c.318C>A	c.(316-318)atC>atA	p.I106I		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	106	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.I106I(2)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGCTCCAGGGGATATTCAAGG	0.463000													25	135					1.42536e-11	2.02768e-11	0.004656	1	0
EPHB6	2051	broad.mit.edu	37	7	142563342	142563342	+	Silent	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:142563342C>G	ENST00000392957.2	+	8	1846	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G	EPHB6_ENST00000442129.1_Silent_p.G353G|EPHB6_ENST00000411471.2_Silent_p.G76G	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	353	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.G338G(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCTGGAGGGCTTCTACCGGG	0.637000													6	69					0	0	0.003080	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767880	31767880	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:31767880C>A	ENST00000240587.4	-	2	3146	c.2819G>T	c.(2818-2820)gGg>gTg	p.G940V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	940					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G757V(1)|p.G940V(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CATGGACAGCCCGGTGAACCT	0.572000													11	73					2.62699e-14	4.00866e-14	0.003163	1	0
IL10RA	3587	broad.mit.edu	37	11	117864126	117864126	+	Splice_Site	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:117864126G>C	ENST00000227752.3	+	4	657		c.e4+1		IL10RA_ENST00000545409.1_Splice_Site|IL10RA_ENST00000541785.1_Splice_Site|IL10RA_ENST00000533700.1_Splice_Site	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha							integral to membrane|plasma membrane	interleukin-10 receptor activity	p.?(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AAACTTCACGGTATGGGGTTC	0.562000													22	80					0	0	0.004656	0	0
C12orf40	283461	broad.mit.edu	37	12	40076706	40076706	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:40076706T>A	ENST00000324616.5	+	8	1134	c.980T>A	c.(979-981)aTg>aAg	p.M327K	C12orf40_ENST00000398716.1_Missense_Mutation_p.M250K|C12orf40_ENST00000405531.3_Missense_Mutation_p.M327K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	327								p.M327N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TATGATAGTATGGGAGATACT	0.313000													7	46					0	0	0.001984	0	0
PCDH10	57575	broad.mit.edu	37	4	134073607	134073607	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:134073607G>C	ENST00000264360.4	+	1	3138	c.2312G>C	c.(2311-2313)tGt>tCt	p.C771S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	771	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C771S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGACCTGCTGTGGCCGCCAA	0.582000													3	19					0	0	0.009096	0	0
ANXA2	302	broad.mit.edu	37	15	60641388	60641388	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr15:60641388C>T	ENST00000396024.3	-	13	1005	c.846G>A	c.(844-846)ggG>ggA	p.G282G	ANXA2_ENST00000451270.2_Silent_p.G282G|ANXA2_ENST00000421017.2_Silent_p.G282G|ANXA2_ENST00000332680.4_Silent_p.G300G	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	282					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	p.G300G(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TATCTCGCGTCCCCTTGCCCT	0.433000													18	50					0	0	0.004990	0	0
CUL2	8453	broad.mit.edu	37	10	35333797	35333797	+	Splice_Site	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:35333797C>A	ENST00000374748.1	-	8	820		c.e8-1		CUL2_ENST00000374751.3_Splice_Site|CUL2_ENST00000374746.1_Splice_Site|CUL2_ENST00000374749.3_Splice_Site|CUL2_ENST00000537177.1_Splice_Site|CUL2_ENST00000602371.1_Splice_Site|CUL2_ENST00000374742.1_Splice_Site			Q13617	CUL2_HUMAN	cullin 2						cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.?(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ACCACGATCACTAAAACAAGG	0.328000													9	58					1.76689e-08	2.31217e-08	0.006214	1	0
JMJD1C	221037	broad.mit.edu	37	10	64945331	64945331	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:64945331C>A	ENST00000399262.2	-	20	7040	c.6822G>T	c.(6820-6822)atG>atT	p.M2274I	JMJD1C_ENST00000542921.1_Missense_Mutation_p.M2092I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.M2037I|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2274	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.M2037I(1)|p.M2274I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACCTTGCTGGCATCATAGTCT	0.388000													12	67					9.31168e-06	1.09798e-05	0.001855	1	0
SRGAP3	9901	broad.mit.edu	37	3	9055137	9055137	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:9055137C>T	ENST00000383836.3	-	17	2429	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	SRGAP3_ENST00000360413.3_Missense_Mutation_p.D644N	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	668	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.D668N(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCTGCCCATCAGGGATGTGC	0.547000			T	RAF1	pilocytic astrocytoma								18	78					0	0	0.007413	0	0
KRT1	3848	broad.mit.edu	37	12	53069297	53069297	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:53069297A>T	ENST00000252244.3	-	9	1673	c.1615T>A	c.(1615-1617)Tat>Aat	p.Y539N		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	539	Gly/Ser-rich.|Tail.				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.Y539N(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						ccagaaccatagctaccacct	0.677000													10	27					0	0	0.002450	0	0
FTCD	10841	broad.mit.edu	37	21	47570097	47570097	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr21:47570097G>A	ENST00000397748.1	-	7	885	c.842C>T	c.(841-843)gCg>gTg	p.A281V	FTCD_ENST00000355384.2_Missense_Mutation_p.A281V|FTCD_ENST00000291670.5_Missense_Mutation_p.A281V|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Missense_Mutation_p.A281V|FTCD_ENST00000359679.2_Missense_Mutation_p.A281V|FTCD_ENST00000397746.3_Missense_Mutation_p.A281V			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	281	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	p.A281V(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAAGGCGGCCGCATCCAGCAG	0.682000													4	19					0	0	0.000602	0	0
OCA2	4948	broad.mit.edu	37	15	28171326	28171326	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr15:28171326T>C	ENST00000354638.3	-	19	2181	c.2026A>G	c.(2026-2028)Aga>Gga	p.R676G	OCA2_ENST00000353809.5_Missense_Mutation_p.R652G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	676					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.R676G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CATTCCACTCTGTGTAGAATT	0.368000									Oculocutaneous Albinism				23	74					0	0	0.003954	0	0
OBSCN	84033	broad.mit.edu	37	1	228482094	228482094	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:228482094C>T	ENST00000570156.2	+	47	12734	c.12660C>T	c.(12658-12660)acC>acT	p.T4220T	OBSCN_ENST00000422127.1_Silent_p.T3791T|OBSCN_ENST00000366707.4_Silent_p.T910T|OBSCN_ENST00000366709.4_Silent_p.T910T|OBSCN_ENST00000284548.11_Silent_p.T3791T|OBSCN_ENST00000359599.6_Silent_p.T2638T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3263	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.T4074T(1)|p.T3845T(1)|p.T3975T(1)|p.T3791T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAGAGGACCTCAGCCACAC	0.587000													32	150					0	0	0.002445	0	0
SPEG	10290	broad.mit.edu	37	2	220354241	220354241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:220354241C>A	ENST00000312358.7	+	36	8633	c.8501C>A	c.(8500-8502)tCg>tAg	p.S2834*	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2834	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.S2834*(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCTTGTCCTCGCTCAAGGCT	0.682000													42	154					1.15505e-17	1.86585e-17	0.009718	1	0
SHQ1	55164	broad.mit.edu	37	3	72890283	72890283	+	Silent	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:72890283G>C	ENST00000325599.8	-	4	538	c.399C>G	c.(397-399)ccC>ccG	p.P133P	SHQ1_ENST00000463369.1_Silent_p.P105P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	133					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.P133P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCTCTTCACAGGGTGTCTGCT	0.393000													40	146					0	0	0.006230	0	0
TNRC18	84629	broad.mit.edu	37	7	5360180	5360180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:5360180G>A	ENST00000399537.4	-	23	6967	c.6619C>T	c.(6619-6621)Cag>Tag	p.Q2207*	TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Q2207*			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2207							DNA binding	p.Q2207*(2)|p.Q39*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCAGCAACTGCTCCAGACAG	0.672000													7	27					0	0	0.004482	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617641	37617641	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr21:37617641C>T	ENST00000399151.3	+	19	3448	c.3363C>T	c.(3361-3363)gaC>gaT	p.D1121D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1121					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.D1121D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCCACACGGACAGCGAGAACA	0.642000													26	118					0	0	0.003271	0	0
HYDIN	54768	broad.mit.edu	37	16	71007834	71007834	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr16:71007834G>T	ENST00000393567.2	-	34	5277	c.5127C>A	c.(5125-5127)gcC>gcA	p.A1709A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1709								p.A1708A(1)|p.A1660A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTGAATTGTGGCAAAGTCCA	0.498000													22	131					2.4375e-19	4.08721e-19	0.007291	1	0
LIG3	3980	broad.mit.edu	37	17	33319679	33319679	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:33319679G>T	ENST00000378526.4	+	8	1556	c.1423G>T	c.(1423-1425)Gcc>Tcc	p.A475S	LIG3_ENST00000262327.5_Missense_Mutation_p.A475S	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	475					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	p.A388S(1)|p.A475S(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GAGCGTCCAGGCCTCGCTGAT	0.622000								Other BER factors					14	62					6.72482e-11	9.26765e-11	0.003163	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													3	37					0	0	0.009096	0	0
MKS1	54903	broad.mit.edu	37	17	56283513	56283513	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:56283513C>A	ENST00000393119.2	-	18	1681	c.1607G>T	c.(1606-1608)cGg>cTg	p.R536L	MKS1_ENST00000546108.1_Missense_Mutation_p.R333L|MKS1_ENST00000537529.2_Missense_Mutation_p.R526L|MKS1_ENST00000337050.7_Intron|MKS1_ENST00000313863.6_3'UTR	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	536					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.R536L(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATGCGGCGCCGGGCTCGACG	0.602000													17	62					1.33834e-09	1.81045e-09	0.007413	1	0
CD101	9398	broad.mit.edu	37	1	117561104	117561104	+	Silent	SNP	A	A	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:117561104A>C	ENST00000256652.4	+	6	1997	c.1939A>C	c.(1939-1941)Aga>Cga	p.R647R	CD101_ENST00000369470.1_Silent_p.R647R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	647	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R647R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTTTATGACAGAAATTCCCT	0.463000													54	110					0	0	0.003610	0	0
BEST3	144453	broad.mit.edu	37	12	70087526	70087526	+	Translation_Start_Site	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:70087526G>T	ENST00000476098.1	-	0	308				BEST3_ENST00000330891.5_Missense_Mutation_p.L137M|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000331471.4_Missense_Mutation_p.L137M|BEST3_ENST00000553096.1_Missense_Mutation_p.L31M|BEST3_ENST00000551160.1_Missense_Mutation_p.L31M|BEST3_ENST00000393365.1_Missense_Mutation_p.L31M|BEST3_ENST00000266661.4_Missense_Mutation_p.L31M			Q8N1M1	BEST3_HUMAN	bestrophin 3							chloride channel complex|plasma membrane	chloride channel activity	p.L137M(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGATGAGCAGGGAGGTGAGA	0.522000													14	76					2.23348e-06	2.69117e-06	0.004007	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21790024	21790024	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:21790024G>A	ENST00000206660.6	+	13	1623	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	RPGRIP1_ENST00000557771.1_Silent_p.E514E|RPGRIP1_ENST00000556336.1_Silent_p.E514E|RPGRIP1_ENST00000400017.2_Silent_p.E541E|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Silent_p.E183E			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	541					response to stimulus|visual perception	cilium		p.E541E(1)|p.E157E(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGGAACTGGAGGCAATGATGA	0.408000													8	41					0	0	0.003080	0	0
CUBN	8029	broad.mit.edu	37	10	16867009	16867009	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:16867009G>T	ENST00000377833.4	-	67	10902	c.10837C>A	c.(10837-10839)Cgt>Agt	p.R3613S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3613	CUB 27.				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.R3613S(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)	GCGGATGGACGCCGTGCATAA	0.458000													12	36					0.00185496	0.00200992	0.001855	1	0
KDM4C	23081	broad.mit.edu	37	9	7049120	7049120	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:7049120G>C	ENST00000381309.3	+	17	2909	c.2344G>C	c.(2344-2346)Gtc>Ctc	p.V782L	KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000442236.2_Missense_Mutation_p.V527L|KDM4C_ENST00000381306.3_Missense_Mutation_p.V782L|KDM4C_ENST00000428870.2_Missense_Mutation_p.V469L|KDM4C_ENST00000543771.1_Missense_Mutation_p.V782L|KDM4C_ENST00000535193.1_Missense_Mutation_p.V804L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	782					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.V782L(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CGCCGTTGCGGTCCCAGAAGT	0.428000													10	50					0	0	0.008291	0	0
C17orf78	284099	broad.mit.edu	37	17	35742976	35742976	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:35742976G>C	ENST00000300618.4	+	4	471	c.421G>C	c.(421-423)Gtc>Ctc	p.V141L	ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	141						integral to membrane		p.V141L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				ACAATGTAAAGTCCTGGGGGC	0.388000													4	25					0	0	0.001168	0	0
SLC44A3	126969	broad.mit.edu	37	1	95360466	95360466	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:95360466C>T	ENST00000271227.6	+	15	2052	c.1950C>T	c.(1948-1950)gcC>gcT	p.A650A	SLC44A3_ENST00000446120.2_Silent_p.A614A|SLC44A3_ENST00000467909.1_Silent_p.A602A|SLC44A3_ENST00000529450.1_Silent_p.A617A|SLC44A3_ENST00000532427.1_Silent_p.A570A|SLC44A3_ENST00000527077.1_Silent_p.A582A	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	650						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A602A(1)|p.A650A(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AACTCCAGGCCATTGTGAGAT	0.398000													6	51					0	0	0.001168	0	0
GABRA2	2555	broad.mit.edu	37	4	46390663	46390663	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:46390663C>A	ENST00000507460.1	-	2	393	c.61G>T	c.(61-63)Gac>Tac	p.D21Y	GABRA2_ENST00000507069.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000515082.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000514090.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000356504.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000510861.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000381620.4_Missense_Mutation_p.D21Y			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	21					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D21Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGGCAGGGTCCCACACCAAG	0.373000													13	104					9.31168e-06	1.09798e-05	0.001855	1	0
TRAPPC2B	10597	broad.mit.edu	37	19	57876262	57876262	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:57876262G>C	ENST00000596755.1	+	1	1328	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	ZNF547_ENST00000282282.3_Intron|AC003002.4_ENST00000597658.1_Intron|TRAPPC2P1_ENST00000543226.1_Missense_Mutation_p.E21Q														p.E21Q(2)		kidney(1)|lung(2)	3						TTTTGAAATGGAGTTTTTGCC	0.468000													3	42					0	0	0.004672	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769365	15769365	+	Splice_Site	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:15769365G>A	ENST00000221307.7	+	11	1362	c.1314_splice	c.e11+1	p.E438_splice	CYP4F3_ENST00000591058.1_Splice_Site_p.E438_splice|CYP4F3_ENST00000585846.1_Splice_Site_p.E438_splice|CYP4F3_ENST00000586182.1_Splice_Site_p.E438_splice	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	438					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.E438E(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGGACCCTGAGGTGCGGGCCC	0.572000													61	275					0	0	0.003610	0	0
SOCS5	9655	broad.mit.edu	37	2	46986062	46986062	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:46986062G>T	ENST00000306503.5	+	2	565	c.393G>T	c.(391-393)aaG>aaT	p.K131N	SOCS5_ENST00000394861.2_Missense_Mutation_p.K131N	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	131					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			p.K131N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GTTCTACAAAGACCCAGAGTT	0.458000													18	60					1.33834e-09	1.81045e-09	0.007413	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77331205	77331205	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr16:77331205C>A	ENST00000282849.5	-	18	3200	c.2782G>T	c.(2782-2784)Gct>Tct	p.A928S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	928					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A928S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAGGAGAAAGCGTTGCAGATT	0.398000													25	123					1.55811e-20	2.66328e-20	0.008361	1	0
NUP37	79023	broad.mit.edu	37	12	102512147	102512147	+	Silent	SNP	C	C	A	rs139625051	by1000genomes	TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:102512147C>A	ENST00000552283.1	-	2	289	c.150G>T	c.(148-150)acG>acT	p.T50T	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.T50T			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	50					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.T50T(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TAACCTGAAACGTACACGTGC	0.363000													35	155					7.53189e-24	1.33934e-23	0.007835	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85521630	85521630	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:85521630A>T	ENST00000393217.2	+	18	4089	c.4028A>T	c.(4027-4029)cAg>cTg	p.Q1343L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1343	IQ 2.							p.Q1343L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTGGTAATCCAGTCATACTGG	0.403000													16	33					0	0	0.008871	0	0
CEP135	9662	broad.mit.edu	37	4	56878095	56878095	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:56878095A>T	ENST00000257287.4	+	21	2870	c.2746A>T	c.(2746-2748)Act>Tct	p.T916S		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	916					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.T916S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTCTATTGACACTGAGAGGAG	0.383000													11	74					0	0	0.000978	0	0
OR52H1	390067	broad.mit.edu	37	11	5566115	5566115	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:5566115C>A	ENST00000322653.4	-	1	664	c.639G>T	c.(637-639)atG>atT	p.M213I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M213I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGACCGTCATGATGGGAA	0.507000													16	77					4.7546e-09	6.37319e-09	0.004007	1	0
CACNA1D	776	broad.mit.edu	37	3	53531424	53531424	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:53531424G>A	ENST00000288139.3	+	2	431	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A105T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A105T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	105					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A105T(4)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACCTGCCCGCGCCCTTTTCTG	0.478000													42	130					0	0	0.003610	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99110112	99110112	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:99110112G>T	ENST00000394170.2	+	3	702	c.451G>T	c.(451-453)Gca>Tca	p.A151S	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.A151S|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.A151S	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	151					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A151S(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCGGAAGATGGCAACACCTGG	0.547000													31	208					2.08457e-15	3.24839e-15	0.002096	1	0
KCNH5	27133	broad.mit.edu	37	14	63246542	63246542	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:63246542G>T	ENST00000322893.7	-	10	2191	c.1923C>A	c.(1921-1923)atC>atA	p.I641I	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.I583I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	641					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.I641I(1)|p.I583I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTCCCGCTTGATGATGTGTA	0.483000													28	62					2.48779e-11	3.48291e-11	0.005443	1	0
SPEF2	79925	broad.mit.edu	37	5	35691155	35691155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:35691155G>A	ENST00000440995.2	+	11	1541	c.1541G>A	c.(1540-1542)tGg>tAg	p.W514*	SPEF2_ENST00000509059.1_Nonsense_Mutation_p.W514*|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.W514*|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	514					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.W514L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTGGAGAGTGGGCCTTACCA	0.348000													4	61					0	0	0.009096	0	0
BAGE2	85319	broad.mit.edu	37	21	11049455	11049455	+	RNA	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr21:11049455G>T	ENST00000470054.1	-	0	653									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACTTGCAGTTCTGGCACA	0.418000													7	167					0.000157383	0.000176606	0.003080	1	0
PRKG1	5592	broad.mit.edu	37	10	53822338	53822338	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:53822338C>A	ENST00000373980.4	+	7	1299	c.882C>A	c.(880-882)gtC>gtA	p.V294V	PRKG1_ENST00000373985.1_Silent_p.V267V|PRKG1_ENST00000373975.2_5'UTR|PRKG1_ENST00000401604.2_Silent_p.V279V	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	279					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.V279V(1)|p.V294V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AAGACCCAGTCTTTCTTAGAA	0.413000													9	51					2.17888e-05	2.51541e-05	0.006214	1	0
JMJD1C	221037	broad.mit.edu	37	10	64952769	64952769	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:64952769G>A	ENST00000399262.2	-	16	6223	c.6005C>T	c.(6004-6006)cCt>cTt	p.P2002L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.P1820L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P1765L|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2002					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.P1765L(1)|p.P2002L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGATTCTGGAGGAGTTAACTT	0.453000													59	294					0	0	0.003610	0	0
HTR3B	9177	broad.mit.edu	37	11	113803683	113803683	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:113803683G>T	ENST00000260191.2	+	6	821	c.564G>T	c.(562-564)ctG>ctT	p.L188L	HTR3B_ENST00000537778.1_Silent_p.L177L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	188					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	p.L188L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGGCCTTTCTGAGGAGCCCAG	0.473000													22	89					4.4004e-07	5.52871e-07	0.003330	1	0
PDILT	204474	broad.mit.edu	37	16	20370695	20370695	+	Missense_Mutation	SNP	C	C	A	rs142976690	byFrequency	TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr16:20370695C>A	ENST00000302451.4	-	12	1949	c.1701G>T	c.(1699-1701)aaG>aaT	p.K567N		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	567					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.K567N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTCCCTTTGGCTTAGCCACCA	0.483000													69	202					1.55545e-33	2.89431e-33	0.003610	1	0
ASIC1	41	broad.mit.edu	37	12	50472281	50472281	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:50472281C>T	ENST00000228468.4	+	6	1300	c.915C>T	c.(913-915)taC>taT	p.Y305Y	ASIC1_ENST00000552438.1_Silent_p.Y339Y|ASIC1_ENST00000447966.2_Silent_p.Y305Y	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	305					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.Y305Y(1)								Amiloride(DB00594)	TCGACTCCTACAGCATCACTG	0.617000													12	342					0	0	0.000978	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21370190	21370190	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:21370190A>C	ENST00000256958.2	+	12	1731	c.1635A>C	c.(1633-1635)ttA>ttC	p.L545F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	545					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.L545F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCTTGAATTTATTTTTCTCTG	0.353000													11	41					0	0	0.001368	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699042	68699042	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:68699042G>T	ENST00000283916.6	-	7	670	c.572C>A	c.(571-573)aCt>aAt	p.T191N	TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.T74N|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	191	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T191N(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTCAGCCTCAGTGCCTCCAAG	0.517000													24	174					7.87624e-14	1.18144e-13	0.002780	1	0
SULF2	55959	broad.mit.edu	37	20	46311847	46311847	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr20:46311847C>G	ENST00000359930.4	-	7	1806	c.955G>C	c.(955-957)Ggt>Cgt	p.G319R	SULF2_ENST00000361612.4_Missense_Mutation_p.G319R|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.G319R|SULF2_ENST00000467815.1_Missense_Mutation_p.G319R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	319					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.G319R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGTGGTAACCGTGGTCGGCG	0.567000													18	58					0	0	0.008361	0	0
MYH1	4619	broad.mit.edu	37	17	10408603	10408603	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:10408603G>T	ENST00000226207.5	-	21	2406	c.2312C>A	c.(2311-2313)gCt>gAt	p.A771D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	771	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A771D(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGAAGACCAGCTTTGAAAAA	0.458000													8	92					1.76689e-08	2.31217e-08	0.006214	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76573654	76573654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr16:76573654G>T	ENST00000307431.8	+	21	3641	c.3256G>T	c.(3256-3258)Gag>Tag	p.E1086*	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.E1038*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.E1014*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.E1090*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1087	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.E1014*(2)|p.E1086*(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAAATATCAAGAGCCTGATGT	0.343000													6	14					0.00116845	0.00126917	0.001168	1	0
MTOR	2475	broad.mit.edu	37	1	11270888	11270888	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:11270888T>C	ENST00000361445.4	-	24	3713	c.3637A>G	c.(3637-3639)Atc>Gtc	p.I1213V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1213					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.I1213V(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATTCTGCAGATGAGCACATCA	0.398000													22	90					0	0	0.003954	0	0
FZD1	8321	broad.mit.edu	37	7	90895971	90895971	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:90895971G>T	ENST00000287934.2	+	1	2189	c.1776G>T	c.(1774-1776)ccG>ccT	p.P592P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	592					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	p.P592P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCGCCCCGCCGCACCCGCCCA	0.647000													27	32					3.21399e-22	5.60226e-22	0.004878	1	0
HIAT1	64645	broad.mit.edu	37	1	100533603	100533603	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:100533603G>A	ENST00000370152.3	+	6	693	c.557G>A	c.(556-558)gGg>gAg	p.G186E	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	186					transmembrane transport	integral to membrane|plasma membrane	transporter activity	p.G186E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CGAGTATATGGGGACAGCTTG	0.433000													26	187					0	0	0.006320	0	0
C5orf34	375444	broad.mit.edu	37	5	43509410	43509410	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr5:43509410T>C	ENST00000306862.2	-	2	407	c.32A>G	c.(31-33)gAa>gGa	p.E11G	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	11								p.E11G(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGAATCATCTTCATAAAGTAT	0.363000													12	60					0	0	0.001855	0	0
SEC23IP	11196	broad.mit.edu	37	10	121691671	121691671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:121691671G>T	ENST00000369075.3	+	16	2671	c.2599G>T	c.(2599-2601)Gga>Tga	p.G867*	SEC23IP_ENST00000543134.1_Nonsense_Mutation_p.G656*|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	867	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.M866_G867>I*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTCTCGTATGGGATCTGATTT	0.388000													19	133					1.9806e-07	2.5244e-07	0.002299	1	0
ADAM33	80332	broad.mit.edu	37	20	3655230	3655230	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr20:3655230G>T	ENST00000356518.2	-	6	762	c.521C>A	c.(520-522)aCc>aAc	p.T174N	ADAM33_ENST00000379861.4_Missense_Mutation_p.T174N|ADAM33_ENST00000350009.2_Missense_Mutation_p.T174N	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	174					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.T174N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TCCTTTCCAGGTGAGCAGCTG	0.607000													60	232					5.08636e-23	9.00838e-23	0.003610	1	0
FBXL18	80028	broad.mit.edu	37	7	5540694	5540694	+	Silent	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:5540694G>A	ENST00000382368.3	-	3	1329	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G	FBXL18_ENST00000453700.3_Silent_p.G402G	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	402								p.G402G(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AGAGGTGGCGGCCCAGGCCCT	0.716000													12	34					0	0	0.002450	0	0
NBPF1	55672	broad.mit.edu	37	1	16902974	16902974	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:16902974T>A	ENST00000430580.2	-	19	2794	c.1907A>T	c.(1906-1908)cAa>cTa	p.Q636L	NBPF1_ENST00000287968.8_Missense_Mutation_p.Q1L|NBPF1_ENST00000432949.1_Missense_Mutation_p.Q94L	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	636						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GACTTTATATTGCCTAAGGTG	0.458000													8	449					0	0	0.004990	0	0
OR52N4	390072	broad.mit.edu	37	11	5776387	5776387	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:5776387C>A	ENST00000317254.3	+	1	465	c.417C>A	c.(415-417)acC>acA	p.T139T	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T139T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTATCCTCACCAATCCTGTAA	0.512000													25	112					8.24728e-16	1.29895e-15	0.004656	1	0
KCNH1	3756	broad.mit.edu	37	1	211093022	211093022	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:211093022G>T	ENST00000367007.4	-	7	1510	c.1341C>A	c.(1339-1341)gaC>gaA	p.D447E	KCNH1_ENST00000271751.4_Missense_Mutation_p.D474E	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	474					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.D474E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTTCTCAATGTCTGTGGATG	0.498000													7	199					2.0095e-06	2.42791e-06	0.001984	1	0
DBH	1621	broad.mit.edu	37	9	136501597	136501597	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:136501597C>A	ENST00000393056.2	+	1	116	c.104C>A	c.(103-105)gCc>gAc	p.A35D		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	35					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.A35D(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	ATCCTGGTGGCCGCACTGCAG	0.677000													10	110					7.48243e-07	9.29507e-07	0.006214	1	0
NCAN	1463	broad.mit.edu	37	19	19334856	19334856	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr19:19334856C>A	ENST00000252575.5	+	4	545	c.502C>A	c.(502-504)Cgg>Agg	p.R168R		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	168	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.R168R(1)|p.R182R(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCGATCAGCCCGGGACCGCTA	0.577000													23	109					4.26978e-12	6.17368e-12	0.003330	1	0
WBSCR17	64409	broad.mit.edu	37	7	70853322	70853322	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:70853322C>A	ENST00000333538.5	+	3	1158	c.524C>A	c.(523-525)gCc>gAc	p.A175D	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	175	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A175D(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTGCACAGTGCCGTCAATCAC	0.542000													34	96					1.90571e-15	2.9802e-15	0.004289	1	0
MYH13	8735	broad.mit.edu	37	17	10253943	10253943	+	Silent	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:10253943C>T	ENST00000418404.3	-	11	1237	c.1074G>A	c.(1072-1074)gtG>gtA	p.V358V	MYH13_ENST00000252172.4_Silent_p.V358V|MYH13_ENST00000570743.1_Silent_p.V358V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	358	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V358V(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CATAATGCATCACGGCTCCCG	0.512000													37	114					0	0	0.002522	0	0
CDC14A	8556	broad.mit.edu	37	1	100964529	100964529	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:100964529A>G	ENST00000336454.3	+	15	1821	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.N489S|CDC14A_ENST00000361544.6_Missense_Mutation_p.N489S|CDC14A_ENST00000542213.1_Missense_Mutation_p.N431S	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	489					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.N489S(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GGGAACTTGAATGCTGCAACA	0.473000													6	91					0	0	0.001168	0	0
OR13C2	392376	broad.mit.edu	37	9	107367587	107367587	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr9:107367587C>T	ENST00000542196.1	-	1	364	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCTGTTGTCCCCATGGCCAAG	0.512000													11	102					0	0	0.001855	0	0
LRRN2	10446	broad.mit.edu	37	1	204588373	204588373	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:204588373C>A	ENST00000367175.1	-	1	2960	c.748G>T	c.(748-750)Gcc>Tcc	p.A250S	LRRN2_ENST00000367176.3_Missense_Mutation_p.A250S|LRRN2_ENST00000367177.3_Missense_Mutation_p.A250S			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	250					cell adhesion	integral to membrane	receptor activity	p.A250S(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACCCGGGCCAGCTGGTTG	0.632000													23	122					7.87624e-14	1.18144e-13	0.002780	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801222	185801222	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:185801222A>T	ENST00000302277.6	+	4	1693	c.1099A>T	c.(1099-1101)Aat>Tat	p.N367Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	367						intracellular	zinc ion binding	p.N367Y(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						TGACATGTCTAATGATTGCAT	0.378000													5	30					0	0	0.001168	0	0
GPA33	10223	broad.mit.edu	37	1	167038228	167038228	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:167038228C>T	ENST00000367868.3	-	3	689	c.346G>A	c.(346-348)Gag>Aag	p.E116K	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	116	Ig-like V-type.					integral to plasma membrane	receptor activity	p.E116K(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGAACACTCGTAGGTGCCG	0.517000													38	68					0	0	0.006230	0	0
ZEB1	6935	broad.mit.edu	37	10	31809806	31809806	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:31809806A>C	ENST00000446923.2	+	7	1886	c.1495A>C	c.(1495-1497)Aag>Cag	p.K499Q	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.K448Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.K495Q|ZEB1_ENST00000320985.10_Missense_Mutation_p.K515Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.K516Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	515					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.K515Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCTTACTGTTAAGTCTGAGAA	0.373000													24	73					0	0	0.002780	0	0
INSC	387755	broad.mit.edu	37	11	15198682	15198682	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:15198682G>C	ENST00000379554.3	+	4	615	c.569G>C	c.(568-570)tGc>tCc	p.C190S	INSC_ENST00000379556.3_Missense_Mutation_p.C143S|INSC_ENST00000530161.1_Missense_Mutation_p.C143S|INSC_ENST00000528567.1_Missense_Mutation_p.C143S|INSC_ENST00000525218.1_Missense_Mutation_p.C143S|INSC_ENST00000424273.1_Missense_Mutation_p.C143S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	190					cell differentiation|nervous system development	cytoplasm	binding	p.C190S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ATGGAGAAATGCTCGGAGCTC	0.493000													19	138					0	0	0.006122	0	0
CHRDL1	91851	broad.mit.edu	37	X	109919536	109919536	+	Missense_Mutation	SNP	T	T	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chrX:109919536T>G	ENST00000218054.4	-	12	1490	c.1294A>C	c.(1294-1296)Agt>Cgt	p.S432R	CHRDL1_ENST00000434224.1_Missense_Mutation_p.S353R|CHRDL1_ENST00000372042.1_Missense_Mutation_p.S434R|CHRDL1_ENST00000372045.1_Missense_Mutation_p.S426R|CHRDL1_ENST00000394797.4_Missense_Mutation_p.S432R|CHRDL1_ENST00000482160.1_Missense_Mutation_p.S354R|CHRDL1_ENST00000444321.2_Missense_Mutation_p.S433R	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	426					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.S432R(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CATACACGACTTGAACACATC	0.463000													5	61					0	0	0.000602	0	0
BPIFB2	80341	broad.mit.edu	37	20	31608184	31608184	+	Silent	SNP	G	G	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr20:31608184G>T	ENST00000170150.3	+	12	1326	c.1131G>T	c.(1129-1131)ggG>ggT	p.G377G		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	377						extracellular region	lipid binding	p.G377G(1)									AGCTTCAGGGGACCACGTCTG	0.602000													17	84					5.03518e-11	6.96086e-11	0.007413	1	0
EPS8L3	79574	broad.mit.edu	37	1	110293311	110293311	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:110293311G>A	ENST00000369805.3	-	18	1973	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	EPS8L3_ENST00000361852.4_Missense_Mutation_p.R551W|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.R581W	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	581						cytoplasm	protein binding	p.R582W(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCCTCCAGCCGGGACAGGATT	0.612000													23	65					0	0	0.008361	0	0
KIAA1467	57613	broad.mit.edu	37	12	13232874	13232874	+	Silent	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:13232874C>G	ENST00000197268.8	+	12	1914	c.1794C>G	c.(1792-1794)acC>acG	p.T598T		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	598						integral to membrane		p.T598T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGGAGTCCACCCCCAAAATTG	0.547000													11	59					0	0	0.000978	0	0
IFITM5	387733	broad.mit.edu	37	11	299433	299433	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:299433C>A	ENST00000382614.2	-	1	93	c.58G>T	c.(58-60)Gcc>Tcc	p.A20S		NM_001025295.1	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	20					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane		p.A20S(1)		lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGTGTGGGCACCGGCCTTG	0.672000													3	14					0.004672	0.00498875	0.004672	1	0
DDO	8528	broad.mit.edu	37	6	110714106	110714106	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:110714106C>A	ENST00000368924.3	-	5	997	c.982G>T	c.(982-984)Gta>Tta	p.V328L	DDO_ENST00000368925.1_Missense_Mutation_p.V300L|DDO_ENST00000368923.3_Missense_Mutation_p.V269L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	300					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	p.V328L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TGGTGGACTACAGGCAGCCTC	0.642000													25	103					4.47668e-21	7.7725e-21	0.003954	1	0
TMEM63C	57156	broad.mit.edu	37	14	77709294	77709294	+	Silent	SNP	A	A	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr14:77709294A>T	ENST00000298351.4	+	15	1380	c.1236A>T	c.(1234-1236)gcA>gcT	p.A412A		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	412						integral to membrane		p.A412A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCTTTATCGCAATCAACACCT	0.512000													21	115					0	0	0.002780	0	0
FAM171B	165215	broad.mit.edu	37	2	187626438	187626438	+	Silent	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr2:187626438C>A	ENST00000304698.5	+	8	1572	c.1369C>A	c.(1369-1371)Cgg>Agg	p.R457R		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	457						integral to membrane	DNA binding	p.R457R(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGTAAAAACTCGGGACGATTT	0.368000													5	48					3.59834e-05	4.11105e-05	0.001168	1	0
KIF13A	63971	broad.mit.edu	37	6	17817465	17817465	+	Splice_Site	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr6:17817465C>A	ENST00000378814.5	-	17	1786		c.e17-1		KIF13A_ENST00000259711.6_Splice_Site|KIF13A_ENST00000378816.5_Splice_Site|KIF13A_ENST00000378843.2_Splice_Site|KIF13A_ENST00000378826.2_Splice_Site	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A						cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.?(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGAACTGGGTCTAGTGAGCCA	0.512000													29	115					2.47511e-08	3.22935e-08	0.008361	1	0
POTEA	340441	broad.mit.edu	37	8	43211932	43211932	+	RNA	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr8:43211932C>A	ENST00000522175.2	+	0	1255							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.A464E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATCCAGGATGCAGTTATTTCA	0.358000													8	71					0.000442599	0.000487966	0.006214	1	0
OR8B8	26493	broad.mit.edu	37	11	124310583	124310583	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:124310583C>A	ENST00000328064.2	-	1	471	c.399G>T	c.(397-399)atG>atT	p.M133I		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M133I(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACATGGTGACCATGTACAACA	0.507000													11	81					2.27111e-07	2.88634e-07	0.001368	1	0
SOX9	6662	broad.mit.edu	37	17	70120440	70120440	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr17:70120440C>G	ENST00000245479.2	+	3	1814	c.1442C>G	c.(1441-1443)gCc>gGc	p.A481G		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	481					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.A481G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACCCCCATCGCCGACACCTCT	0.647000													22	164					0	0	0.003330	0	0
RP1-125I3.2	0	broad.mit.edu	37	1	26186959	26186960	+	RNA	INS	-	-	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr1:26186959_26186960insT	ENST00000455431.1	+	0	263																											AAATTTTGTAATTTTTTTTTTT	0.554													4	7	---	---	---	---					
CACNA2D3	55799	broad.mit.edu	37	3	54354528	54354528	+	Frame_Shift_Del	DEL	A	A	-			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr3:54354528delA	ENST00000474759.1	+	3	312	c.264delA	c.(262-264)gtfs	p.V88fs	CACNA2D3_ENST00000490478.1_5'UTR|CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.V88fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.V88fs	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	88						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCCAACTGGTAAAGAAGCTGG	0.448													2	4	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaa>ga	p.EE142del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	142	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606													8	175	---	---	---	---					
HDAC9	9734	broad.mit.edu	37	7	18868809	18868810	+	Frame_Shift_Ins	INS	-	-	T			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr7:18868809_18868810insT	ENST00000406451.3	+	18	2489_2490	c.2339_2340insT	c.(2338-2340)cggfs	p.R780fs	HDAC9_ENST00000401921.1_Frame_Shift_Ins_p.R739fs|HDAC9_ENST00000441542.2_Frame_Shift_Ins_p.R783fs|HDAC9_ENST00000432645.2_Frame_Shift_Ins_p.R780fs	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	780	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTGAGGCCCCCTGGCCATCACG	0.530													25	169	---	---	---	---					
SORCS1	114815	broad.mit.edu	37	10	108459106	108459106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr10:108459106delC	ENST00000263054.6	-	9	1286	c.1279delG	c.(1279-1281)tcfs	p.V427fs	SORCS1_ENST00000344440.6_Frame_Shift_Del_p.V427fs|SORCS1_ENST00000369698.1_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	427						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CATTCTTGGACCGCTGCGAAC	0.478													17	102	---	---	---	---					
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	CG	-	rs61747093		TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr11:1577819_1577820delCG	ENST00000397374.3	-	7	1933_1934	c.1806_1807delCG	c.(1804-1809)cggcfs	p.RG602fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.RG602fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	602					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752													2	4	---	---	---	---					
METTL1	4234	broad.mit.edu	37	12	58165850	58165856	+	Frame_Shift_Del	DEL	CGAGTCT	CGAGTCT	-			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr12:58165850_58165856delCGAGTCT	ENST00000324871.7	-	1	720_726	c.11_17delAGACTCG	c.(10-18)ggfs	p.ETR4fs	METTL1_ENST00000257848.7_Frame_Shift_Del_p.ETR4fs|METTL21B_ENST00000548256.1_Intron|METTL1_ENST00000548681.1_5'UTR	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	4						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			GGCCACGTTCCGAGTCTCGGCTGCCAT	0.643													13	147	---	---	---	---					
SLC6A10P	386757	broad.mit.edu	37	16	32890877	32890877	+	RNA	DEL	C	C	-			TCGA-35-4123-01A-01D-1105-08	TCGA-35-4123-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ceccaee-df27-4f7f-bfcd-e1c59b365711	b5b71aef-8a1b-4f37-a875-e683bb10a1d3	g.chr16:32890877delC	ENST00000330048.5	-	0	3028					NR_003083.2																						GGCGGGAGGGCCAAGCTGGAG	0.632													10	48	---	---	---	---					
