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
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	by1000genomes	TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1																						GGAACATCACGTTGAAAGACT	0.622000													6	25					0	0	0.248553	0	0
TENM3	55714	broad.mit.edu	37	4	183676258	183676258	+	Missense_Mutation	SNP	C	C	A	rs77172314		TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr4:183676258C>A	ENST00000511685.1	+	22	4861	c.4738C>A	c.(4738-4740)Cct>Act	p.P1580T	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1580T					teneurin transmembrane protein 3									p.P1580N(1)									AGTGGTGTCTCCTGATAACCA	0.423000													22	23					1.32003e-05	1.44629e-05	0.693898	1	0
ZNF28	7576	broad.mit.edu	37	19	53304633	53304633	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:53304633C>A	ENST00000438150.2	-	2	1199	c.306G>T	c.(304-306)caG>caT	p.Q102H	ZNF28_ENST00000457749.2_Missense_Mutation_p.Q155H|ZNF28_ENST00000414252.2_Missense_Mutation_p.Q102H|ZNF28_ENST00000360272.4_Missense_Mutation_p.Q102H|ZNF28_ENST00000594602.1_Intron			P17035	ZNF28_HUMAN	zinc finger protein 28	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q102H(2)|p.Q155H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCCCTTCAGGCTGAAATATGT	0.398000													71	208					9.4991e-31	1.3601e-30	0.870114	1	0
FCAR	2204	broad.mit.edu	37	19	55401054	55401054	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:55401054G>A	ENST00000355524.3	+	5	699	c.689G>A	c.(688-690)cGc>cAc	p.R230H	FCAR_ENST00000391726.3_Missense_Mutation_p.R122H|FCAR_ENST00000391724.3_Missense_Mutation_p.R196H|FCAR_ENST00000345937.4_Missense_Mutation_p.R134H|FCAR_ENST00000353758.4_Missense_Mutation_p.R121H|FCAR_ENST00000391723.3_Silent_p.P193P|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.R218H|FCAR_ENST00000391725.3_Missense_Mutation_p.R208H	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	230					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.R230H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AACTTGATCCGCATGGCCGTG	0.532000													6	335					0	0	0.278610	0	0
MBD1	4152	broad.mit.edu	37	18	47800019	47800019	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr18:47800019G>C	ENST00000591416.1	-	12	1792	c.1361C>G	c.(1360-1362)aCt>aGt	p.T454S	MBD1_ENST00000588937.1_Missense_Mutation_p.T431S|MBD1_ENST00000353909.3_Missense_Mutation_p.T405S|MBD1_ENST00000587605.1_Missense_Mutation_p.T398S|MBD1_ENST00000591535.1_Missense_Mutation_p.T431S|MBD1_ENST00000590208.1_Missense_Mutation_p.T454S|MBD1_ENST00000398493.1_Missense_Mutation_p.T398S|MBD1_ENST00000398488.1_Missense_Mutation_p.T398S|MBD1_ENST00000585672.1_Missense_Mutation_p.T404S|MBD1_ENST00000585595.1_Missense_Mutation_p.T479S|MBD1_ENST00000457839.2_Missense_Mutation_p.T479S|MBD1_ENST00000436910.1_Missense_Mutation_p.T431S|MBD1_ENST00000424334.2_Missense_Mutation_p.T505S|MBD1_ENST00000398495.2_Missense_Mutation_p.T423S|MBD1_ENST00000349085.2_Missense_Mutation_p.T398S|MBD1_ENST00000347968.3_Missense_Mutation_p.T398S|MBD1_ENST00000339998.6_Missense_Mutation_p.T454S|MBD1_ENST00000269468.5_Missense_Mutation_p.T454S|MBD1_ENST00000269471.5_Missense_Mutation_p.T431S|MBD1_ENST00000382948.5_Missense_Mutation_p.T454S			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	454					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.T454S(2)|p.T431S(1)|p.T479S(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CACAAGGTCAGTGCCAGGCGG	0.622000													17	33					0	0	0.500413	0	0
PLXNA2	5362	broad.mit.edu	37	1	208252776	208252776	+	Silent	SNP	T	T	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:208252776T>A	ENST00000367033.3	-	12	3172	c.2415A>T	c.(2413-2415)gcA>gcT	p.A805A		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	805			A -> G (in dbSNP:rs17011882).		axon guidance	integral to membrane|intracellular|plasma membrane		p.A805A(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCCGCTGGGCTGCACACTTGT	0.587000													4	12					0	0	0.150653	0	0
DCAF13	25879	broad.mit.edu	37	8	104453721	104453721	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr8:104453721G>T	ENST00000297579.5	+	10	1858	c.1581G>T	c.(1579-1581)caG>caT	p.Q527H		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	375					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.Q527H(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATTATAACCAGAAATTGAAGG	0.348000													26	121					2.79863e-10	3.32668e-10	0.681144	1	0
OR5J2	282775	broad.mit.edu	37	11	55944912	55944912	+	Silent	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr11:55944912G>A	ENST00000312298.1	+	1	819	c.819G>A	c.(817-819)gtG>gtA	p.V273V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V273V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AAGAGAAAGTGGTTTCTATGT	0.428000													19	66					0	0	0.592651	0	0
RD3	343035	broad.mit.edu	37	1	211652496	211652496	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:211652496G>T	ENST00000367002.4	-	3	1633	c.470C>A	c.(469-471)gCg>gAg	p.A157E	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	157					response to stimulus|visual perception			p.A157E(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CGAGATGCGCGCGCGGGTCTT	0.687000													9	14					2.17888e-05	2.34648e-05	0.335167	1	0
RBM28	55131	broad.mit.edu	37	7	127954875	127954875	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr7:127954875C>G	ENST00000223073.1	-	17	2101	c.1987G>C	c.(1987-1989)Gat>Cat	p.D663H	RBM28_ENST00000415472.2_Missense_Mutation_p.D522H|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	663					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	p.D663H(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTCTTTCCATCAGGCAGCTCC	0.582000													36	125					0	0	0.779181	0	0
POSTN	10631	broad.mit.edu	37	13	38154715	38154715	+	Silent	SNP	T	T	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr13:38154715T>C	ENST00000379747.4	-	11	1629	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	POSTN_ENST00000541481.1_Silent_p.K504K|POSTN_ENST00000541179.1_Silent_p.K504K|POSTN_ENST00000379742.4_Silent_p.K504K|POSTN_ENST00000379743.4_Silent_p.K504K|POSTN_ENST00000379749.4_Silent_p.K504K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	504	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.K504K(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GCTTATCTTGTTTTAACTTTT	0.443000													107	48					0	0	0.870114	0	0
TIMD4	91937	broad.mit.edu	37	5	156349220	156349220	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:156349220C>A	ENST00000274532.2	-	7	958	c.902G>T	c.(901-903)gGa>gTa	p.G301V	TIMD4_ENST00000407087.3_Missense_Mutation_p.G273V|TIMD4_ENST00000406964.1_Missense_Mutation_p.G3V	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	301						integral to membrane		p.G301I(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGGGTATTCCATCCATCTG	0.502000													9	34					1.76689e-08	2.08064e-08	0.335167	1	0
ZNF45	7596	broad.mit.edu	37	19	44419176	44419176	+	Silent	SNP	A	A	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:44419176A>G	ENST00000269973.5	-	10	1502	c.412T>C	c.(412-414)Ttg>Ctg	p.L138L	ZNF45_ENST00000589703.1_Silent_p.L138L|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	138					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L138L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTATAGTGCAAATCATCTCGT	0.398000													22	59					0	0	0.592651	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463318	5463318	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:5463318A>G	ENST00000296564.7	+	13	4093	c.3871A>G	c.(3871-3873)Aat>Gat	p.N1291D		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1291								p.N1291D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTTAAATGTAAATAACAACAT	0.403000													8	9					0	0	0.278610	0	0
COL11A1	1301	broad.mit.edu	37	1	103427811	103427811	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:103427811C>A	ENST00000358392.2	-	40	3388	c.3071G>T	c.(3070-3072)gGt>gTt	p.G1024V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1012V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1012	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G1012V(1)|p.G1024V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTGAGGACCTGGATCACC	0.388000													46	20					8.48111e-28	1.18736e-27	0.870114	1	0
APOBEC3G	60489	broad.mit.edu	37	22	39482368	39482368	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr22:39482368G>T	ENST00000407997.3	+	6	1177	c.820G>T	c.(820-822)Gac>Tac	p.D274Y	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.D274Y	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G									p.D274Y(2)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCTGGACCTGGACCAGGACTA	0.507000													9	54					2.17888e-05	2.34648e-05	0.335167	1	0
PDE6G	5148	broad.mit.edu	37	17	79620209	79620209	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr17:79620209G>A	ENST00000573076.1	-	2	752	c.277C>T	c.(277-279)Cca>Tca	p.P93S	PDE6G_ENST00000571224.1_Missense_Mutation_p.P43S|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571004.1_Missense_Mutation_p.P43S|PDE6G_ENST00000331056.5_Missense_Mutation_p.P43S			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	43					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.P43S(1)		lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCTTTCTTTGGGGGCTTGCTC	0.637000													27	95					0	0	0.740014	0	0
CDH7	1005	broad.mit.edu	37	18	63548113	63548113	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr18:63548113G>C	ENST00000397968.2	+	12	2767	c.2341G>C	c.(2341-2343)Gag>Cag	p.E781Q	CDH7_ENST00000323011.3_Missense_Mutation_p.E781Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	781					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E781Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GACTGGCCAAGAGAGTTTGTA	0.368000													3	71					0	0	0.150653	0	0
PRRC2C	23215	broad.mit.edu	37	1	171501586	171501586	+	Silent	SNP	A	A	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:171501586A>G	ENST00000367742.3	+	12	1601	c.1359A>G	c.(1357-1359)caA>caG	p.Q453Q	PRRC2C_ENST00000392078.3_Silent_p.Q453Q|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Silent_p.Q451Q|PRRC2C_ENST00000338920.4_Silent_p.Q451Q			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	451							protein C-terminus binding	p.Q453Q(2)									GACGAAGACAACAATCAGAAA	0.493000													8	22					0	0	0.307466	0	0
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr12:25398281C>T	ENST00000311936.3	-	2	229	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000256078.4_Missense_Mutation_p.G13D|KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338000	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	15					0	0	0.457914	0	0
TIMD4	91937	broad.mit.edu	37	5	156349221	156349221	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:156349221C>T	ENST00000274532.2	-	7	957	c.901G>A	c.(901-903)Gga>Aga	p.G301R	TIMD4_ENST00000407087.3_Missense_Mutation_p.G273R|TIMD4_ENST00000406964.1_Missense_Mutation_p.G3R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	301						integral to membrane		p.G301I(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGGTATTCCATCCATCTGA	0.502000													9	36					0	0	0.307466	0	0
SLC12A2	6558	broad.mit.edu	37	5	127488427	127488427	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:127488427C>G	ENST00000262461.2	+	15	2482	c.2293C>G	c.(2293-2295)Ctg>Gtg	p.L765V	SLC12A2_ENST00000343225.4_Missense_Mutation_p.L765V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	765					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.L765V(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACACAAGCCCTGACTTACCT	0.413000													24	39					0	0	0.681144	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189063	11189063	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr8:11189063G>C	ENST00000382435.4	+	1	667	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	150	DUF6 1.					integral to membrane		p.E150Q(1)									CCTCTGCCTTGAGAGCCAGGG	0.582000													35	173					0	0	0.796494	0	0
APOA5	116519	broad.mit.edu	37	11	116661719	116661719	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr11:116661719G>T	ENST00000542499.1	-	4	298	c.226C>A	c.(226-228)Cct>Act	p.P76T	APOA5_ENST00000227665.4_Missense_Mutation_p.P76T	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	76					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.P76T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCACTCAGAGGCCTCAGCTTT	0.607000													10	31					0.00829132	0.00856316	0.361761	1	0
XPO7	23039	broad.mit.edu	37	8	21843107	21843107	+	Silent	SNP	A	A	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr8:21843107A>G	ENST00000434536.1	+	13	1611	c.1509A>G	c.(1507-1509)acA>acG	p.T503T	XPO7_ENST00000252512.9_Silent_p.T494T|XPO7_ENST00000433566.4_Silent_p.T495T			Q9UIA9	XPO7_HUMAN	exportin 7	494					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	p.T494T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAAGGCTGACATGGCTGGTTT	0.493000													114	72					0	0	0.870114	0	0
GFM2	84340	broad.mit.edu	37	5	74032775	74032775	+	Silent	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:74032775G>C	ENST00000296805.3	-	15	1813	c.1356C>G	c.(1354-1356)tcC>tcG	p.S452S	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Silent_p.S452S|GFM2_ENST00000427854.2_Silent_p.S452S|GFM2_ENST00000345239.2_Silent_p.S405S	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	452					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.S452S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTAATGCACTGGACTTGGATG	0.478000													23	22					0	0	0.639603	0	0
AP5M1	55745	broad.mit.edu	37	14	57741518	57741518	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr14:57741518A>G	ENST00000261558.3	+	2	1037	c.631A>G	c.(631-633)Att>Gtt	p.I211V	AP5M1_ENST00000431972.2_Missense_Mutation_p.I225V	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	211	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		p.I211V(1)									ACAAGTTTCTATTTCTATCAC	0.378000													26	64					0	0	0.654019	0	0
ADORA2B	136	broad.mit.edu	37	17	15877995	15877995	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr17:15877995A>T	ENST00000304222.2	+	2	670	c.338A>T	c.(337-339)tAt>tTt	p.Y113F		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	113					activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane		p.Y113F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TTAAACAGGTATAAAAGTTTG	0.488000													18	40					0	0	0.539581	0	0
ACTC1	70	broad.mit.edu	37	15	35085472	35085472	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr15:35085472G>A	ENST00000290378.4	-	3	1083	c.428C>T	c.(427-429)tCc>tTc	p.S143F	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	143					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.S143F(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGCATACAGGGATAGCACTGC	0.547000													15	33					0	0	0.479597	0	0
GRIA1	2890	broad.mit.edu	37	5	152870284	152870284	+	Translation_Start_Site	SNP	A	A	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:152870284A>T	ENST00000285900.5	+	0	179				GRIA1_ENST00000518142.1_De_novo_Start_InFrame|GRIA1_ENST00000518862.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCGGATTCCAAGGGAAACAG	0.498000													11	27					0	0	0.361761	0	0
LRP1B	53353	broad.mit.edu	37	2	141707953	141707953	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr2:141707953C>A	ENST00000389484.3	-	20	3958	c.2987G>T	c.(2986-2988)gGg>gTg	p.G996V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	996	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G996V(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)		CTCATCACTCCCGTCCCCACA	0.448000										TSP Lung(27;0.18)			20	27					1.37657e-19	1.84518e-19	0.608945	1	0
MGAT4C	25834	broad.mit.edu	37	12	86373688	86373688	+	Silent	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr12:86373688C>T	ENST00000604798.1	-	8	2020	c.816G>A	c.(814-816)ttG>ttA	p.L272L	MGAT4C_ENST00000393205.2_Silent_p.L301L|MGAT4C_ENST00000549405.2_Silent_p.L272L|MGAT4C_ENST00000552808.2_Silent_p.L272L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Silent_p.L272L|MGAT4C_ENST00000332156.1_Silent_p.L272L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	272					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.L272L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAAAATGGGCCAAACGTGGGA	0.383000													29	62					0	0	0.717897	0	0
KRT36	8689	broad.mit.edu	37	17	39645680	39645680	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr17:39645680G>C	ENST00000393986.2	-	2	499	c.287C>G	c.(286-288)aCc>aGc	p.T96S	KRT36_ENST00000328119.6_Missense_Mutation_p.T146S			O76013	KRT36_HUMAN	keratin 36	146	Coil 1A.|Rod.					intermediate filament	protein binding|structural constituent of epidermis	p.T146S(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ATCTTCGATGGTCTTGAAGTA	0.572000													12	62					0	0	0.457914	0	0
DSG4	147409	broad.mit.edu	37	18	28968847	28968847	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr18:28968847G>T	ENST00000359747.4	+	5	412	c.383G>T	c.(382-384)cGg>cTg	p.R128L	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.R128L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	128	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R128L(4)		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)			ATCTATTGCCGGGCTCTGAAT	0.373000													35	121					2.6416e-12	3.26315e-12	0.819951	1	0
SCN4A	6329	broad.mit.edu	37	17	62018408	62018408	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr17:62018408C>A	ENST00000435607.1	-	24	5310	c.5234G>T	c.(5233-5235)cGc>cTc	p.R1745L	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1745L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1745	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1745L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CTTCATGGAGCGCTGTAGCAG	0.622000													25	36					2.41591e-17	3.13819e-17	0.681144	1	0
C1orf173	127254	broad.mit.edu	37	1	75037634	75037634	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:75037634G>T	ENST00000326665.5	-	14	3978	c.3760C>A	c.(3760-3762)Ctg>Atg	p.L1254M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1254	Glu-rich.							p.L1254M(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						CTCCCCTCCAGTCCTGCGCAG	0.592000													41	26					7.53189e-24	1.04288e-23	0.834066	1	0
ESPNP	284729	broad.mit.edu	37	1	17023376	17023376	+	RNA	SNP	C	C	T	rs613579	by1000genomes	TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:17023376C>T	ENST00000492551.1	-	0	1571					NR_026567.1																						CCAGTAGCTCCGAGTTGTCGC	0.617000													5	23					0	0	0.184627	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208303	140208303	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:140208303C>G	ENST00000529310.1	+	1	741	c.627C>G	c.(625-627)aaC>aaG	p.N209K	PCDHA6_ENST00000527624.1_Missense_Mutation_p.N209K|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.N209K(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCACACAACTTATTCCTGA	0.453000													27	42					0	0	0.693898	0	0
SYT4	6860	broad.mit.edu	37	18	40854329	40854329	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr18:40854329C>A	ENST00000255224.3	-	2	433	c.65G>T	c.(64-66)aGt>aTt	p.S22I	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	22						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.S22I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GCCAAATGCACTGAAGATCCC	0.418000													7	24					2.0095e-06	2.28105e-06	0.248553	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965591	35965591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:35965591C>T	ENST00000274278.3	-	4	1097	c.740G>A	c.(739-741)tGg>tAg	p.W247*	UGT3A1_ENST00000507113.1_Nonsense_Mutation_p.W213*|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Nonsense_Mutation_p.W193*|UGT3A1_ENST00000503189.1_Nonsense_Mutation_p.W247*	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	247						integral to membrane	glucuronosyltransferase activity	p.W247*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTAACAAACCACAACTCTGC	0.438000													23	78					0	0	0.608945	0	0
VPS13B	157680	broad.mit.edu	37	8	100147266	100147266	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr8:100147266C>G	ENST00000395996.1	+	10	1437	c.1326C>G	c.(1324-1326)ttC>ttG	p.F442L	VPS13B_ENST00000358544.2_Missense_Mutation_p.F442L|VPS13B_ENST00000355155.1_Missense_Mutation_p.F442L|VPS13B_ENST00000357162.2_Missense_Mutation_p.F442L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	442					protein transport			p.F442L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAGAACCTTTCTTTGATTGCC	0.353000													25	112					0	0	0.740014	0	0
EIF4G3	8672	broad.mit.edu	37	1	21167521	21167521	+	Splice_Site	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:21167521C>A	ENST00000602326.1	-	28	4322	c.3738_splice	c.e28-1	p.E1247_splice	EIF4G3_ENST00000374937.3_Splice_Site_p.E1247_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.E961_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.E1241_splice|EIF4G3_ENST00000537738.1_Splice_Site_p.E731_splice|EIF4G3_ENST00000536266.1_Splice_Site_p.E845_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.E1241_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1241	MI.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.E1241*(1)|p.E1247*(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGCATGGCTTCCTGTTCCAAC	0.428000													26	33					5.77227e-19	7.57611e-19	0.729181	1	0
KCNH1	3756	broad.mit.edu	37	1	211280696	211280696	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:211280696C>G	ENST00000367007.4	-	2	272	c.103G>C	c.(103-105)Gct>Cct	p.A35P	KCNH1_ENST00000271751.4_Missense_Mutation_p.A35P	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	35	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.A35P(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)		ACTATCTGAGCATTCCCCAAC	0.398000													15	111					0	0	0.479597	0	0
CSMD3	114788	broad.mit.edu	37	8	113668455	113668455	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr8:113668455T>A	ENST00000297405.5	-	18	3176	c.2932A>T	c.(2932-2934)Agt>Tgt	p.S978C	CSMD3_ENST00000455883.2_Missense_Mutation_p.S874C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S978C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S938C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	978	CUB 5.					integral to membrane|plasma membrane		p.S938C(1)|p.S978C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAAATTACTGCTACTAAAT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			57	38					0	0	0.870114	0	0
DCC	1630	broad.mit.edu	37	18	50278474	50278474	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr18:50278474G>C	ENST00000442544.2	+	2	758	c.142G>C	c.(142-144)Gat>Cat	p.D48H		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	48	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.D48H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGAACCTTCTGATGCCGTCAC	0.473000													16	14					0	0	0.520397	0	0
TCIRG1	10312	broad.mit.edu	37	11	67808820	67808820	+	Missense_Mutation	SNP	C	C	T	rs139397145		TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr11:67808820C>T	ENST00000265686.3	+	2	190	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W		NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	28					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	p.R28W(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CTGCGTGAGTCGGCTGGGCGA	0.672000													10	32					0	0	0.411799	0	0
IQGAP2	10788	broad.mit.edu	37	5	75979701	75979701	+	Silent	SNP	A	A	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:75979701A>T	ENST00000274364.6	+	30	4161	c.3864A>T	c.(3862-3864)atA>atT	p.I1288I	IQGAP2_ENST00000396234.3_Silent_p.I784I|IQGAP2_ENST00000379730.3_Silent_p.I790I|IQGAP2_ENST00000502745.1_Silent_p.I784I	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1288					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.I1288I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AATATGACATAGAGGACGGTG	0.418000													14	42					0	0	0.479597	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													8	8					0	0	0.278610	0	0
ADAM19	8728	broad.mit.edu	37	5	156915334	156915334	+	Nonsense_Mutation	SNP	G	G	T	rs35242691		TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:156915334G>T	ENST00000257527.4	-	21	2567	c.2489C>A	c.(2488-2490)tCg>tAg	p.S830*	ADAM19_ENST00000394020.1_Nonsense_Mutation_p.S832*|ADAM19_ENST00000430702.2_Nonsense_Mutation_p.S563*|ADAM19_ENST00000517905.1_Nonsense_Mutation_p.S830*	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	830					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.S831*(1)|p.S830*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCTGGACGACTCCGTCCT	0.602000													25	89					1.55469e-16	1.9787e-16	0.654019	1	0
TPST2	8459	broad.mit.edu	37	22	26936823	26936823	+	Silent	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr22:26936823G>A	ENST00000338754.4	-	3	1044	c.774C>T	c.(772-774)atC>atT	p.I258I	TPST2_ENST00000398110.2_Silent_p.I258I|TPST2_ENST00000403880.1_Silent_p.I258I	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	258					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	p.I258I(1)		central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGCTCCAGGCGATGCCGAGGA	0.607000													3	24					0	0	0.150653	0	0
ENDOV	284131	broad.mit.edu	37	17	78389003	78389003	+	Silent	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr17:78389003G>A	ENST00000518137.1	+	1	37	c.9G>A	c.(7-9)ctG>ctA	p.L3L	ENDOV_ENST00000520367.1_Silent_p.L3L|ENDOV_ENST00000323854.5_Silent_p.L3L|ENDOV_ENST00000523999.1_Silent_p.L3L	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	3					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding	p.L3L(2)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CCATGGCCCTGGAGGCGGCGG	0.706000								Direct reversal of damage					6	16					0	0	0.217242	0	0
OR2W3	343171	broad.mit.edu	37	1	248059460	248059460	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:248059460G>T	ENST00000537741.1	+	3	829	c.572G>T	c.(571-573)aGc>aTc	p.S191I	OR2W3_ENST00000360358.3_Missense_Mutation_p.S191I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S191I(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			GCCTGCGTCAGCACTGTGGCC	0.612000													18	83					4.0492e-12	4.95339e-12	0.827153	1	0
OR51D1	390038	broad.mit.edu	37	11	4661441	4661441	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr11:4661441C>T	ENST00000357605.2	+	1	497	c.421C>T	c.(421-423)Cac>Tac	p.H141Y		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H141Y(1)|p.H141N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCATTTGCCACCCATTGCG	0.547000													26	55					0	0	0.681144	0	0
SYNE2	23224	broad.mit.edu	37	14	64421624	64421624	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr14:64421624G>A	ENST00000358025.3	+	8	1008	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E260K|SYNE2_ENST00000356081.3_Missense_Mutation_p.E260K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E260K|SYNE2_ENST00000341472.5_Missense_Mutation_p.E260K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	260	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E260K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGATTGCTGGAACCAGAAGG	0.348000													20	40					0	0	0.639603	0	0
IGLJ7	28827	broad.mit.edu	37	22	23263607	23263607	+	RNA	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr22:23263607G>T	ENST00000390330.2	+	0	46																											GACCGCCCTCGGTAAGTCTCC	0.582000													8	21					3.86212e-05	4.12396e-05	0.361761	1	0
EXOSC9	5393	broad.mit.edu	37	4	122723066	122723066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr4:122723066G>T	ENST00000512454.1	+	1	319	c.103G>T	c.(103-105)Gga>Tga	p.G35*	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Nonsense_Mutation_p.G51*|EXOSC9_ENST00000379663.3_Nonsense_Mutation_p.G51*			Q06265	EXOS9_HUMAN	exosome component 9	51	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	p.G51*(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TGTGGAACTTGGAAAAACAAG	0.388000													12	55					2.27111e-07	2.62532e-07	0.411799	1	0
TMEM132B	114795	broad.mit.edu	37	12	126138328	126138328	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr12:126138328A>G	ENST00000299308.3	+	9	2317	c.2309A>G	c.(2308-2310)cAg>cGg	p.Q770R	TMEM132B_ENST00000535886.1_Missense_Mutation_p.Q282R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	770						integral to membrane		p.Q770R(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAACCTTGTCAGAAGACCAAG	0.448000													26	57					0	0	0.667858	0	0
MBIP	51562	broad.mit.edu	37	14	36780791	36780791	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr14:36780791G>A	ENST00000416007.4	-	6	865	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	MBIP_ENST00000318473.7_Missense_Mutation_p.R260W|MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000359527.7_Missense_Mutation_p.R260W	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	260	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	p.R260W(1)		breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GTCTGTAACCGCAAGTGGGCC	0.403000													3	45					0	0	0.150653	0	0
RYR3	6263	broad.mit.edu	37	15	34123253	34123253	+	Silent	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr15:34123253C>T	ENST00000389232.4	+	86	11494	c.11424C>T	c.(11422-11424)gtC>gtT	p.V3808V	RYR3_ENST00000415757.3_Silent_p.V3803V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3808					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V3807V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTGGCAGTCACCAAGCAGA	0.373000													12	22					0	0	0.457914	0	0
SEC16B	89866	broad.mit.edu	37	1	177935061	177935061	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:177935061G>C	ENST00000308284.6	-	3	468	c.379C>G	c.(379-381)Cat>Gat	p.H127D	RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.H127D|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.H127D	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	127	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.H127D(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGGTGTCCATGATAGTAATAA	0.468000													3	10					0	0	0.150653	0	0
USP39	10713	broad.mit.edu	37	2	85866372	85866372	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr2:85866372A>C	ENST00000323701.6	+	9	1152	c.1142A>C	c.(1141-1143)gAg>gCg	p.E381A	USP39_ENST00000409470.1_Missense_Mutation_p.E381A|USP39_ENST00000409766.3_Missense_Mutation_p.E381A|USP39_ENST00000409025.1_Missense_Mutation_p.E381A|USP39_ENST00000450066.2_Missense_Mutation_p.E278A|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	381					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.E381A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GAGTACCAGGAGACAATGGTG	0.493000													13	39					0	0	0.435327	0	0
NPIPA1	9284	broad.mit.edu	37	16	15045628	15045628	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr16:15045628T>C	ENST00000328085.6	+	8	799	c.799T>C	c.(799-801)Tcc>Ccc	p.S267P	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1									p.S267P(2)									CAAGACACCTTCCGAGTGTCT	0.517000													3	47					0	0	0.217242	0	0
CT47B1	643311	broad.mit.edu	37	X	120009412	120009412	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chrX:120009412G>C	ENST00000371311.3	-	1	367	c.113C>G	c.(112-114)tCc>tGc	p.S38C		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	38								p.S38C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GTCGGGGCCGGAGTCGCCGCC	0.741000													13	12					0	0	0.457914	0	0
MYO9B	4650	broad.mit.edu	37	19	17264821	17264821	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:17264821A>T	ENST00000595618.1	+	5	1195	c.1043A>T	c.(1042-1044)gAa>gTa	p.E348V	CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.E348V|MYO9B_ENST00000397274.2_Missense_Mutation_p.E348V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	348	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.E348L(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTCAGCGAGGAAGAGCGCCAA	0.458000													32	31					0	0	0.870114	0	0
KEAP1	9817	broad.mit.edu	37	19	10602938	10602938	+	Splice_Site	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:10602938C>A	ENST00000171111.5	-	3	1187	c.639_splice	c.e3-1	p.V214_splice	KEAP1_ENST00000393623.2_Splice_Site_p.V214_splice|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	214	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.V214L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGCTTGGCCACCTGCAGAGGG	0.607000													6	3					0.0293803	0.0300969	0.248553	1	0
CCDC107	203260	broad.mit.edu	37	9	35660428	35660428	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr9:35660428G>C	ENST00000421582.2	+	3	352	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378406.1_Missense_Mutation_p.E97Q|CCDC107_ENST00000327351.2_Missense_Mutation_p.E97Q|CCDC107_ENST00000378407.3_Missense_Mutation_p.E97Q|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000426546.2_Missense_Mutation_p.E97Q|CCDC107_ENST00000378409.3_Missense_Mutation_p.E97Q|ARHGEF39_ENST00000378387.3_3'UTR			Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	97						integral to membrane		p.E97Q(1)		endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCCACGAGGAGGCAAGCAA	0.532000													17	28					0	0	0.520397	0	0
KIAA1407	57577	broad.mit.edu	37	3	113729802	113729802	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr3:113729802C>A	ENST00000295878.3	-	9	1376	c.1230G>T	c.(1228-1230)caG>caT	p.Q410H	KIAA1407_ENST00000545063.1_Missense_Mutation_p.Q241H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	410								p.Q410H(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CATGCCAATGCTGCCATTCTG	0.473000													57	162					5.82218e-30	8.24264e-30	0.870114	1	0
FBXO18	84893	broad.mit.edu	37	10	5948121	5948121	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr10:5948121G>T	ENST00000379999.5	+	4	536	c.432G>T	c.(430-432)atG>atT	p.M144I	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.M93I	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	93	F-box.				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.M144I(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGGGTGACATGATCTTTCCTG	0.597000													16	87					4.75885e-15	5.99615e-15	0.520397	1	0
PCDH9	5101	broad.mit.edu	37	13	67800037	67800037	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr13:67800037C>T	ENST00000544246.1	-	2	3227	c.2536G>A	c.(2536-2538)Gca>Aca	p.A846T	PCDH9_ENST00000377865.2_Missense_Mutation_p.A846T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A846T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A846T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A846T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	846					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A846T(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTCTGAGCTGCTTTGAACCTT	0.483000													6	68					0	0	0.217242	0	0
NCAM1	4684	broad.mit.edu	37	11	113126630	113126630	+	Silent	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr11:113126630G>A	ENST00000316851.7	+	14	1830	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.Q492Q	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	620	Fibronectin type-III 2.			QG -> R (in Ref. 8; AAA59913).	axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.Q619Q(1)|p.Q610Q(1)|p.Q75Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCGAAGGGCAGATGGGAGAGG	0.498000													4	8					0	0	0.184627	0	0
ZNF658	26149	broad.mit.edu	37	9	40772845	40772845	+	Silent	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr9:40772845C>T	ENST00000602553.1	-	5	2724	c.2430G>A	c.(2428-2430)aaG>aaA	p.K810K	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Silent_p.K810K			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K810K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAGGGCTGCCTTATAGACAA	0.423000													34	52					0	0	0.870114	0	0
TENM3	55714	broad.mit.edu	37	4	183676259	183676259	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr4:183676259C>A	ENST00000511685.1	+	22	4862	c.4739C>A	c.(4738-4740)cCt>cAt	p.P1580H	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1580H					teneurin transmembrane protein 3									p.P1580N(1)									GTGGTGTCTCCTGATAACCAA	0.418000													21	23					9.90768e-06	1.09506e-05	0.681144	1	0
UNC13A	23025	broad.mit.edu	37	19	17750267	17750267	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:17750267C>T	ENST00000428389.2	-	25	3187	c.3188G>A	c.(3187-3189)aGc>aAc	p.S1063N	UNC13A_ENST00000552293.1_Missense_Mutation_p.S975N|UNC13A_ENST00000550896.1_Missense_Mutation_p.S973N|UNC13A_ENST00000252773.7_Missense_Mutation_p.S975N|UNC13A_ENST00000551649.1_Missense_Mutation_p.S975N|UNC13A_ENST00000519716.2_Missense_Mutation_p.S975N			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	975					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1063N(1)|p.S975N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GAAGGTGATGCTGGTGAGAAG	0.537000													11	3					0	0	0.411799	0	0
NT5C1B	93034	broad.mit.edu	37	2	18758102	18758102	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr2:18758102C>T	ENST00000304081.4	-	7	1181	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	NT5C1B_ENST00000359846.2_Missense_Mutation_p.A421T|NT5C1B_ENST00000600945.1_Missense_Mutation_p.A421T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.A421T	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB									p.A421T(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTAAGATATGCCTTCAAATAG	0.383000													33	84					0	0	0.740014	0	0
TMEM43	79188	broad.mit.edu	37	3	14170966	14170966	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr3:14170966C>T	ENST00000306077.4	+	2	321	c.67C>T	c.(67-69)Cca>Tca	p.P23S		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	23						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		p.P23S(1)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CAGCTCCCAGCCAGGCTTCCT	0.453000													14	38					0	0	0.539581	0	0
MARCH6	10299	broad.mit.edu	37	5	10381944	10381944	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:10381944A>T	ENST00000274140.5	+	4	355	c.223A>T	c.(223-225)Att>Ttt	p.I75F	MARCH6_ENST00000449913.2_Intron|MARCH6_ENST00000503788.1_Intron	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	75					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.I75F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ACGGCTTCCAATTCAAGACAT	0.358000													100	90					0	0	0.870114	0	0
UBTF	7343	broad.mit.edu	37	17	42287499	42287499	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr17:42287499C>T	ENST00000302904.4	-	15	2111	c.1619G>A	c.(1618-1620)cGa>cAa	p.R540Q	UBTF_ENST00000343638.5_Missense_Mutation_p.R503Q|UBTF_ENST00000526094.1_Missense_Mutation_p.R503Q|UBTF_ENST00000529383.1_Missense_Mutation_p.R540Q|UBTF_ENST00000436088.1_Missense_Mutation_p.R540Q|UBTF_ENST00000393606.3_Missense_Mutation_p.R503Q|UBTF_ENST00000533177.1_Missense_Mutation_p.R503Q|UBTF_ENST00000527034.1_Missense_Mutation_p.R503Q|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	540					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	p.R540Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TACCTCATATCGCTTTTGGTC	0.517000											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	111					0	0	0.539581	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424435	47424435	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:47424435C>G	ENST00000404338.3	+	1	2503	c.2503C>G	c.(2503-2505)Ctg>Gtg	p.L835V		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	835					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.L835V(2)									GCGGATTGAACTGTCTGTTCT	0.438000													31	99					0	0	0.750413	0	0
ZNF646	9726	broad.mit.edu	37	16	31087948	31087948	+	Silent	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr16:31087948C>T	ENST00000394979.2	+	1	726	c.303C>T	c.(301-303)ggC>ggT	p.G101G	ZNF646_ENST00000300850.5_Silent_p.G101G			O15015	ZN646_HUMAN	zinc finger protein 646	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G101G(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTCCTGAGGGCCGCCGCAGGC	0.622000													15	33					0	0	0.479597	0	0
COL11A1	1301	broad.mit.edu	37	1	103484401	103484401	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:103484401T>A	ENST00000358392.2	-	10	1676	c.1359A>T	c.(1357-1359)gaA>gaT	p.E453D	COL11A1_ENST00000353414.4_Missense_Mutation_p.E402D|COL11A1_ENST00000512756.1_Missense_Mutation_p.E325D|COL11A1_ENST00000370096.3_Missense_Mutation_p.E441D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	441	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.E453D(1)|p.E441D(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGTGGTCCTTCGACAAGCA	0.328000													28	12					0	0	0.760397	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912815	77912815	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chrX:77912815G>T	ENST00000321110.1	-	2	1398	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	368							nucleic acid binding|zinc ion binding	p.S368Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ATCTTGTATAGAACTGGCAAG	0.488000													20	15					2.94398e-08	3.43465e-08	0.557998	1	0
TPST2	8459	broad.mit.edu	37	22	26936841	26936841	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr22:26936841G>C	ENST00000338754.4	-	3	1026	c.756C>G	c.(754-756)atC>atG	p.I252M	TPST2_ENST00000398110.2_Missense_Mutation_p.I252M|TPST2_ENST00000403880.1_Missense_Mutation_p.I252M	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	252					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	p.I252M(1)		central_nervous_system(1)|large_intestine(1)|lung(5)	7						GGAAGTCGAGGATGAGCTTGA	0.612000													5	25					0	0	0.184627	0	0
LIPF	8513	broad.mit.edu	37	10	90428413	90428413	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr10:90428413G>T	ENST00000394375.3	+	5	465	c.352G>T	c.(352-354)Gat>Tat	p.D118Y	LIPF_ENST00000238983.4_Missense_Mutation_p.D108Y|LIPF_ENST00000355843.2_Splice_Site	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	108					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	p.D118Y(1)|p.D108Y(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CATTCTGGCAGATGCTGGTTA	0.488000													26	35					2.27525e-19	3.0177e-19	0.667858	1	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors					4	10					0	0	0.217242	0	0
COL11A2	1302	broad.mit.edu	37	6	33145920	33145920	+	Missense_Mutation	SNP	G	G	T	rs121912952		TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr6:33145920G>T	ENST00000341947.2	-	21	2088	c.1861C>A	c.(1861-1863)Cct>Act	p.P621T	COL11A2_ENST00000374712.1_Missense_Mutation_p.P540T|COL11A2_ENST00000374714.1_Missense_Mutation_p.P595T|COL11A2_ENST00000395197.1_Missense_Mutation_p.P561T|COL11A2_ENST00000357486.1_Missense_Mutation_p.P600T|COL11A2_ENST00000361917.1_Missense_Mutation_p.P514T|COL11A2_ENST00000374708.4_Missense_Mutation_p.P535T|COL11A2_ENST00000374713.1_Missense_Mutation_p.P574T	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	621	Triple-helical region.		P -> T (in DFNB53).		cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.P621T(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGGTCCAGGAATACCAGGT	0.567000													6	45					0.000157383	0.000166641	0.278610	1	0
MAN2A2	4122	broad.mit.edu	37	15	91455886	91455886	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr15:91455886G>A	ENST00000360468.3	+	15	2479	c.2461G>A	c.(2461-2463)Gag>Aag	p.E821K	MAN2A2_ENST00000431652.2_Missense_Mutation_p.E329K|MAN2A2_ENST00000430376.2_Intron|MAN2A2_ENST00000559717.1_Missense_Mutation_p.E821K	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	821					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.E821K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCCCGATGGCGAGGCCAAGGT	0.597000													8	29					0	0	0.278610	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481893	123481893	+	Missense_Mutation	SNP	T	T	A	rs140191385	by1000genomes	TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr12:123481893T>A	ENST00000280562.5	-	10	1656	c.1451A>T	c.(1450-1452)gAc>gTc	p.D484V	PITPNM2_ENST00000320201.4_Missense_Mutation_p.D484V|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D484V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.D205V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	484					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	p.D484V(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGCAAAGGCGTCAGAGCAGAC	0.672000													8	44					0	0	0.307466	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	27					0	0	0.150653	0	0
NLRP3	114548	broad.mit.edu	37	1	247588030	247588030	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:247588030G>T	ENST00000366497.2	+	4	2065	c.1285G>T	c.(1285-1287)Ggc>Tgc	p.G429C	NLRP3_ENST00000336119.3_Missense_Mutation_p.G429C|NLRP3_ENST00000348069.2_Missense_Mutation_p.G429C|NLRP3_ENST00000391828.3_Missense_Mutation_p.G429C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.G429C|NLRP3_ENST00000366496.2_Missense_Mutation_p.G429C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	429	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.G429C(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)			GATGGAGAGTGGCAAGAGCCT	0.582000													12	55					9.31168e-06	1.03829e-05	0.435327	1	0
CSMD1	64478	broad.mit.edu	37	8	3059239	3059239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr8:3059239C>A	ENST00000520002.1	-	33	5551	c.4996G>T	c.(4996-4998)Gga>Tga	p.G1666*	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G1666*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G1666*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G1665*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.G1665*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G1666*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G1665*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1666	CUB 10.					integral to membrane		p.G1665*(1)|p.G1394*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAAACTGTCCAAAGACCACT	0.418000													9	2					0.00448238	0.0046676	0.307466	1	0
TSTD2	158427	broad.mit.edu	37	9	100380096	100380096	+	Silent	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr9:100380096G>A	ENST00000341170.4	-	4	928	c.546C>T	c.(544-546)ccC>ccT	p.P182P	TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000375163.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	182								p.P182P(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGATCCATTGGGGATCCTCCA	0.498000													23	29					0	0	0.654019	0	0
SPEN	23013	broad.mit.edu	37	1	16242663	16242663	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:16242663G>T	ENST00000375759.3	+	6	1488	c.1284G>T	c.(1282-1284)agG>agT	p.R428S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	428					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.R428S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGATGAAAGGATAGATGAAT	0.388000													37	110					6.05902e-23	8.20899e-23	0.788014	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													3	25					0	0	0.115264	0	0
MYO9B	4650	broad.mit.edu	37	19	17264820	17264820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:17264820G>T	ENST00000595618.1	+	5	1194	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Nonsense_Mutation_p.E348*|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.E348*	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	348	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.E348L(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGTCAGCGAGGAAGAGCGCCA	0.453000													33	30					1.06522e-23	1.45889e-23	0.864702	1	0
CDC25C	995	broad.mit.edu	37	5	137621421	137621421	+	Missense_Mutation	SNP	C	C	T	rs139145068	byFrequency	TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:137621421C>T	ENST00000323760.6	-	14	1660	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	CDC25C_ENST00000357274.3_Missense_Mutation_p.R418Q|CDC25C_ENST00000348983.3_Missense_Mutation_p.R388Q|CDC25C_ENST00000514555.1_Missense_Mutation_p.R431Q|CDC25C_ENST00000513970.1_Missense_Mutation_p.R461Q|CDC25C_ENST00000415130.2_Missense_Mutation_p.R388Q|CDC25C_ENST00000356505.3_Missense_Mutation_p.R431Q	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	461					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	p.R461Q(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AATCTGCTCCCGCAGCTGCCG	0.542000													45	42					0	0	0.847076	0	0
MYH13	8735	broad.mit.edu	37	17	10212755	10212755	+	Splice_Site	SNP	C	C	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr17:10212755C>G	ENST00000418404.3	-	34	5129		c.e34-1		MYH13_ENST00000570743.1_Splice_Site|MYH13_ENST00000252172.4_Splice_Site			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle						muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.?(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						GCTGGGAGTCCTGCAGGGGAG	0.672000													6	2					0	0	0.217242	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208338	140208338	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr5:140208338A>T	ENST00000529310.1	+	1	776	c.662A>T	c.(661-663)gAg>gTg	p.E221V	PCDHA6_ENST00000527624.1_Missense_Mutation_p.E221V|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.E221V(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAAACCTGAGCTCACAGGC	0.443000													25	45					0	0	0.693898	0	0
HTR5A	3361	broad.mit.edu	37	7	154876113	154876113	+	Silent	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr7:154876113C>T	ENST00000287907.2	+	2	1566	c.990C>T	c.(988-990)aaC>aaT	p.N330N	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	330						integral to plasma membrane	serotonin receptor activity	p.N330N(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCTACTCCAACTCCTTCTTTA	0.512000													26	80					0	0	0.667858	0	0
ACP5	54	broad.mit.edu	37	19	11685955	11685955	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:11685955T>C	ENST00000592828.1	-	7	1250	c.848A>G	c.(847-849)tAt>tGt	p.Y283C	ACP5_ENST00000590420.1_Missense_Mutation_p.M41V|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.Y283C|ACP5_ENST00000433365.2_Missense_Mutation_p.Y283C|ACP5_ENST00000412435.2_Missense_Mutation_p.Y283C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	283					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.Y283C(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						TTCAGTCCCATAGTGGAAGCG	0.562000													25	14					0	0	0.740014	0	0
SOAT1	6646	broad.mit.edu	37	1	179316735	179316735	+	Splice_Site	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:179316735G>T	ENST00000367619.3	+	12	1261	c.1117_splice	c.e12-1	p.G373_splice	SOAT1_ENST00000540564.1_Splice_Site_p.G315_splice|SOAT1_ENST00000539888.1_Splice_Site_p.G308_splice|SOAT1_ENST00000535686.1_Splice_Site_p.G109_splice	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	373					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	p.G373V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTATTTTTAGGTGTGCTGATT	0.343000													21	106					1.50039e-11	1.81778e-11	0.608945	1	0
NETO1	81832	broad.mit.edu	37	18	70526114	70526114	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr18:70526114G>T	ENST00000327305.6	-	4	1073	c.416C>A	c.(415-417)gCt>gAt	p.A139D	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.A138D|NETO1_ENST00000299430.2_Missense_Mutation_p.A138D|NETO1_ENST00000583169.1_Missense_Mutation_p.A139D	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	139	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.A138D(1)|p.A139D(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCTCCATCAGCAAAAAATTT	0.348000													32	48					3.99451e-17	5.1358e-17	0.740014	1	0
NUAK1	9891	broad.mit.edu	37	12	106460869	106460869	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr12:106460869C>A	ENST00000261402.2	-	7	3076	c.1697G>T	c.(1696-1698)aGc>aTc	p.S566I		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	566							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S566I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGAAGGGCGGCTGTAGCTCCG	0.637000													16	23					3.52763e-06	3.96859e-06	0.520397	1	0
LPHN2	23266	broad.mit.edu	37	1	82456731	82456731	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:82456731G>T	ENST00000370728.1	+	25	4927	c.4282G>T	c.(4282-4284)Ggc>Tgc	p.G1428C	LPHN2_ENST00000319517.6_Missense_Mutation_p.G1372C|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1430C|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1353C|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1400C|LPHN2_ENST00000370730.1_Missense_Mutation_p.G1385C|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1443C|LPHN2_ENST00000335786.5_Missense_Mutation_p.G1385C|LPHN2_ENST00000359929.3_Missense_Mutation_p.G1372C|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1443C|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1430C|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1400C			O95490	LPHN2_HUMAN	latrophilin 2	1428					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.G1443C(1)|p.G1372C(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		gatcagcaggggcaatagtga	0.438000													25	5					5.35356e-11	6.42427e-11	0.639603	1	0
SLC9C2	284525	broad.mit.edu	37	1	173556830	173556830	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr1:173556830C>A	ENST00000367714.3	-	5	919	c.497G>T	c.(496-498)cGt>cTt	p.R166L	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R64L	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	166					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R166L(1)									ATTCACAGAACGAAGAGGATC	0.294000													21	81					5.45024e-15	6.79931e-15	0.654019	1	0
UGT2A2	574537	broad.mit.edu	37	4	70504968	70504968	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr4:70504968T>A	ENST00000457664.2	-	1	390	c.391A>T	c.(391-393)Aac>Tac	p.N131Y	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.N332Y|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_001105677.2	NP_001099147.2												p.N131Y(1)									AGTTGTATGTTAATTTGAAAG	0.393000													48	38					0	0	0.864702	0	0
CLDN18	51208	broad.mit.edu	37	3	137717827	137717827	+	Silent	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr3:137717827C>A	ENST00000343735.4	+	1	251	c.117C>A	c.(115-117)ccC>ccA	p.P39P		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	39					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						ACAACAACCCCGTAACAGCTG	0.592000													4	96					0.150653	0.153083	0.150653	1	0
TCP11	6954	broad.mit.edu	37	6	35086069	35086069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr6:35086069C>A	ENST00000311875.5	-	10	1945	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	TCP11_ENST00000444780.2_Nonsense_Mutation_p.E505*|TCP11_ENST00000373974.4_Nonsense_Mutation_p.E464*|TCP11_ENST00000418521.2_Nonsense_Mutation_p.E434*|TCP11_ENST00000373979.2_Nonsense_Mutation_p.E435*|TCP11_ENST00000512012.1_Nonsense_Mutation_p.E497*|TCP11_ENST00000244645.3_Nonsense_Mutation_p.E435*|TCP11_ENST00000412155.2_Nonsense_Mutation_p.E459*			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	497					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.E435*(1)|p.E510*(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ACTTTTGTTTCCAGTGCCTGG	0.507000													55	87					2.44813e-32	3.54557e-32	0.870114	1	0
ZNF507	22847	broad.mit.edu	37	19	32845460	32845460	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:32845460C>T	ENST00000311921.3	+	2	1916	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L	ZNF507_ENST00000355898.5_Missense_Mutation_p.S575L|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.S575L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S575L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CAGGAATTGTCAGATGGGCAG	0.438000													19	24					0	0	0.592651	0	0
PI4KA	5297	broad.mit.edu	37	22	21064219	21064219	+	Silent	SNP	G	G	A			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr22:21064219G>A	ENST00000255882.6	-	53	6236	c.6150C>T	c.(6148-6150)cgC>cgT	p.R2050R	PI4KA_ENST00000414196.3_Silent_p.R802R|PI4KA_ENST00000572273.1_Silent_p.R1992R	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1992					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.R1992R(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTGTCTGGCCGCGAAAACAGG	0.592000													3	44					0	0	0.115264	0	0
CA9	768	broad.mit.edu	37	9	35679284	35679284	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr9:35679284C>T	ENST00000378357.4	+	7	1114	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	337	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	p.A337V(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGCCCTGTGCCCAGGGTGTC	0.572000													89	98					0	0	0.870114	0	0
CHST6	4166	broad.mit.edu	37	16	75513263	75513263	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr16:75513263C>G	ENST00000332272.4	-	3	643	c.464G>C	c.(463-465)cGg>cCg	p.R155P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R155P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	155					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.R155P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAGGACTGCCGCGCGCACAG	0.687000													30	38					0	0	0.760397	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820698	159820698	+	RNA	DEL	A	A	-			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr3:159820698delA	ENST00000497452.1	-	0	517																											TGGAacagtgaaaaaaaaaag	0.279													4	5	---	---	---	---					
NPY5R	4889	broad.mit.edu	37	4	164272501	164272502	+	Frame_Shift_Ins	INS	-	-	A	rs76477129		TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr4:164272501_164272502insA	ENST00000515560.1	+	4	2598_2599	c.1076_1077insA	c.(1075-1077)aaafs	p.K359fs	NPY5R_ENST00000506953.1_Frame_Shift_Ins_p.K359fs|NPY5R_ENST00000338566.3_Frame_Shift_Ins_p.K359fs			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	359					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTACAAGAATAAAAAAGAGAT	0.371													23	76	---	---	---	---					
WDR86	349136	broad.mit.edu	37	7	151079002	151079005	+	Frame_Shift_Del	DEL	CCCT	CCCT	-			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr7:151079002_151079005delCCCT	ENST00000334493.6	-	5	1355_1358	c.925_928delAGGG	c.(925-930)tgfs	p.RV309fs	WDR86_ENST00000477459.1_Frame_Shift_Del_p.GG135fs|WDR86_ENST00000463000.1_Intron|WDR86_ENST00000469830.2_Frame_Shift_Del_p.EG330fs	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	309										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCGGAACACCCTCCGCAGCTCT	0.706													4	2	---	---	---	---					
LINC00922	283867	broad.mit.edu	37	16	65397093	65397093	+	RNA	DEL	T	T	-			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr16:65397093delT	ENST00000569736.1	-	0	567				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						GTAATTAACCTTTTAAAGCTC	0.378													12	71	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1220465	1220466	+	Frame_Shift_Ins	INS	-	-	G			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr19:1220465_1220466insG	ENST00000326873.7	+	4	1731_1732	c.558_559insG	c.(556-561)acgtggfs	p.W187fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	187	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCACCACCGGTGGCACCCT	0.663		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	4	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													4	7	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-75-6206-01A-11D-1753-08	TCGA-75-6206-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5ca29b-85d3-46b1-a710-6dcd3ce821c8	65921087-4876-4ec9-81f9-d8200d1d448b	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													4	8	---	---	---	---