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
MAP2	4133	broad.mit.edu	37	2	210570428	210570428	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:210570428C>T	ENST00000360351.4	+	11	5215	c.4709C>T	c.(4708-4710)tCt>tTt	p.S1570F	MAP2_ENST00000392194.1_Missense_Mutation_p.S214F|MAP2_ENST00000447185.1_Missense_Mutation_p.S1566F|MAP2_ENST00000199940.6_Missense_Mutation_p.S271F|MAP2_ENST00000361559.4_Missense_Mutation_p.S214F|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1570					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.S1570F(1)|p.S271F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGTTCTATCTCTTCTTCAGCA	0.418000													20	80					0	0	0.108266	0	0
PRLR	5618	broad.mit.edu	37	5	35065370	35065370	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:35065370G>T	ENST00000382002.5	-	10	2116	c.1690C>A	c.(1690-1692)Cca>Aca	p.P564T	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P463T|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P463T|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_3'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	564					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.P564T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTAGCATGTGGATCTGGCACC	0.522000													4	80					0.014758	0.0150896	0.014758	1	0
PLXDC1	57125	broad.mit.edu	37	17	37239790	37239790	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:37239790C>G	ENST00000315392.4	-	9	1122	c.911G>C	c.(910-912)tGc>tCc	p.C304S	PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.C264S|PLXDC1_ENST00000394316.2_Missense_Mutation_p.C304S	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	304					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.C304S(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGCTGCAGGCAGGCTGCAAG	0.572000													8	13					0	0	0.047766	0	0
ZNF479	90827	broad.mit.edu	37	7	57188723	57188723	+	Silent	SNP	A	A	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:57188723A>T	ENST00000331162.4	-	5	669	c.399T>A	c.(397-399)ggT>ggA	p.G133G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G133G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCATATTCACCCACACTTT	0.338000													46	91					0	0	0.048971	0	0
RAB7L1	8934	broad.mit.edu	37	1	205740776	205740776	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:205740776C>G	ENST00000367139.3	-	4	505	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	RAB7L1_ENST00000235932.4_Missense_Mutation_p.E68Q|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E68Q|RAB7L1_ENST00000446390.2_Missense_Mutation_p.E44Q|RAB7L1_ENST00000468887.1_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	68					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.E68Q(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGAAGCGCTCCTGCCCTGGG	0.522000													45	134					0	0	0.042209	0	0
WHSC1	7468	broad.mit.edu	37	4	1976612	1976612	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:1976612C>T	ENST00000382895.3	+	21	3826	c.3395C>T	c.(3394-3396)cCc>cTc	p.P1132L	WHSC1_ENST00000382892.2_Missense_Mutation_p.P1132L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.P1132L|WHSC1_ENST00000382888.3_Missense_Mutation_p.P480L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P1132L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1132	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.P1132L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GACGCTGGCCCCAAAGGAAAC	0.453000			T	IGH@	MM								4	175					0	0	0.014758	0	0
INPP4B	8821	broad.mit.edu	37	4	143081533	143081533	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:143081533G>A	ENST00000513000.1	-	18	1974	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	INPP4B_ENST00000308502.4_Missense_Mutation_p.S514L|INPP4B_ENST00000509777.1_Missense_Mutation_p.S514L|INPP4B_ENST00000262992.4_Missense_Mutation_p.S514L|INPP4B_ENST00000508116.1_Missense_Mutation_p.S514L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	514					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.S514L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATCATAGTCTGAATGATGTGG	0.473000													14	68					0	0	0.020292	0	0
DOCK4	9732	broad.mit.edu	37	7	111617307	111617307	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:111617307G>A	ENST00000428084.1	-	8	853	c.581C>T	c.(580-582)cCg>cTg	p.P194L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.P194L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	194					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.P194L(1)|p.P182L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGCCTGCACCGGGGTGTCTTT	0.498000													4	15					0	0	0.009096	0	0
DMD	1756	broad.mit.edu	37	X	32563307	32563307	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:32563307G>T	ENST00000357033.4	-	17	2343	c.2137C>A	c.(2137-2139)Cag>Aag	p.Q713K	DMD_ENST00000378677.2_Missense_Mutation_p.Q709K|DMD_ENST00000288447.4_Missense_Mutation_p.Q705K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	713					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.Q709K(1)|p.Q713K(1)|p.Q708K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACAGTAATCTGCCTCTTCTTT	0.423000													12	16					3.27435e-08	3.54722e-08	0.020292	1	0
TTN	7273	broad.mit.edu	37	2	179425729	179425729	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:179425729A>G	ENST00000589042.1	-	326	85354	c.85130T>C	c.(85129-85131)aTa>aCa	p.I28377T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I19504T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I26736T|TTN_ENST00000342992.6_Missense_Mutation_p.I25809T|TTN_ENST00000460472.2_Missense_Mutation_p.I19312T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I19437T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26736	Fibronectin type-III 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I25809T(1)|p.I19504T(1)|p.I25807T(1)|p.I19437T(1)|p.I19312T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTGCATTTATCTTAAGGAC	0.428000													72	115					0	0	0.048971	0	0
SLC20A1	6574	broad.mit.edu	37	2	113414815	113414815	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:113414815G>A	ENST00000272542.3	+	6	1314	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	259					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.E259K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GAGAAAAATTGAACGTAAGTA	0.378000													5	78					0	0	0.029380	0	0
CRTC3	64784	broad.mit.edu	37	15	91172586	91172586	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:91172586C>T	ENST00000420329.2	+	11	1235	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.S363L	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	363					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S363L(2)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTTCACCCTTCGCTCCGTCTG	0.552000			T	MAML2	salivary gland mucoepidermoid								95	415					0	0	0.048971	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45244880	45244880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:45244880C>T	ENST00000352766.7	+	15	1447	c.1447C>T	c.(1447-1449)Cga>Tga	p.R483*	ARHGAP8_ENST00000389773.5_Nonsense_Mutation_p.R395*|PRR5-ARHGAP8_ENST00000361473.5_Nonsense_Mutation_p.R404*|ARHGAP8_ENST00000356099.6_Nonsense_Mutation_p.R273*|ARHGAP8_ENST00000389774.2_Nonsense_Mutation_p.R304*|ARHGAP8_ENST00000336963.4_Nonsense_Mutation_p.R273*|ARHGAP8_ENST00000517296.3_Nonsense_Mutation_p.R483*														p.R304*(1)|p.R309*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GACCTTCCTGCGAGAGCTGCC	0.617000													5	194					0	0	0.014758	0	0
TECTA	7007	broad.mit.edu	37	11	120996139	120996139	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:120996139C>T	ENST00000392793.1	+	8	1603	c.1332C>T	c.(1330-1332)taC>taT	p.Y444Y	TECTA_ENST00000264037.2_Silent_p.Y444Y			O75443	TECTA_HUMAN	tectorin alpha	444	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.Y444Y(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCAGCACTACGCCTCCATTT	0.488000													247	294					0	0	0.048971	0	0
TRPM1	4308	broad.mit.edu	37	15	31355390	31355390	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:31355390A>T	ENST00000542188.1	-	7	1260	c.947T>A	c.(946-948)gTg>gAg	p.V316E	TRPM1_ENST00000397795.2_Missense_Mutation_p.V277E|TRPM1_ENST00000256552.6_Missense_Mutation_p.V299E	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	277					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.V277E(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATCACAAATCACCACAGGGAT	0.617000													44	67					0	0	0.048971	0	0
SPATA2	9825	broad.mit.edu	37	20	48523254	48523254	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:48523254C>T	ENST00000422556.1	-	3	814	c.465G>A	c.(463-465)gaG>gaA	p.E155E	SPATA2_ENST00000289431.5_Silent_p.E155E|SPATA2_ENST00000543716.1_Silent_p.E18E	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	155					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		p.E155E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCTGGAGGGTCTCCACGAGCT	0.527000													21	47					0	0	0.099896	0	0
SV2A	9900	broad.mit.edu	37	1	149885007	149885007	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:149885007C>A	ENST00000369146.3	-	2	876	c.386G>T	c.(385-387)gGg>gTg	p.G129V	SV2A_ENST00000369145.1_Missense_Mutation_p.G129V	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	129					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.G129V(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGACCCTCCCCATCACTCAA	0.657000													24	214					1.64293e-13	1.91063e-13	0.083992	1	0
ROBO3	64221	broad.mit.edu	37	11	124740078	124740078	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:124740078C>T	ENST00000397801.1	+	5	976	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	ROBO3_ENST00000538940.1_Missense_Mutation_p.R240C	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	262	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity	p.R262C(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCATTCCTGCGCAGACCAGT	0.552000													9	116					0	0	0.058154	0	0
GRM8	2918	broad.mit.edu	37	7	126173585	126173585	+	Silent	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:126173585T>C	ENST00000339582.2	-	9	2659	c.1851A>G	c.(1849-1851)tcA>tcG	p.S617S	GRM8_ENST00000358373.3_Silent_p.S617S|GRM8_ENST00000444921.2_Silent_p.S617S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	617					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S617S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTTCGCGTCCTGAAGCCCTCA	0.453000										HNSCC(24;0.065)			3	63					0	0	0.014758	0	0
MARCH1	55016	broad.mit.edu	37	4	164534638	164534638	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:164534638A>T	ENST00000339875.5	-	1	48	c.19T>A	c.(19-21)Tgt>Agt	p.C7S	MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000274056.7_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	0	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.C7S(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAATTACAACAAACGTGGCTG	0.353000													9	43					0	0	0.047766	0	0
MUC2	4583	broad.mit.edu	37	11	1078320	1078320	+	Missense_Mutation	SNP	G	G	A	rs72652894		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:1078320G>A	ENST00000441003.2	+	5	634	c.607G>A	c.(607-609)Gat>Aat	p.D203N	MUC2_ENST00000359061.5_Missense_Mutation_p.D203N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	203	VWFD 1.					inner mucus layer|outer mucus layer	protein binding	p.D203N(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACCAGCCCGATGTGGTGTG	0.672000													21	109					0	0	0.091800	0	0
RGS22	26166	broad.mit.edu	37	8	101105679	101105679	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:101105679A>C	ENST00000360863.6	-	3	307	c.113T>G	c.(112-114)cTt>cGt	p.L38R	RGS22_ENST00000523437.1_Missense_Mutation_p.L38R|RGS22_ENST00000523287.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	38					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.L38R(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTCACTGGAAGGCTTAGGAA	0.279000													14	30					0	0	0.028581	0	0
GK2	2712	broad.mit.edu	37	4	80329119	80329119	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:80329119T>C	ENST00000358842.3	-	1	253	c.236A>G	c.(235-237)aAt>aGt	p.N79S		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	79					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.N79S(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TATATCAATATTCAGTTCGTC	0.428000													83	104					0	0	0.048971	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18497989	18497989	+	Silent	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:18497989T>C	ENST00000280706.2	+	5	1448	c.651T>C	c.(649-651)gaT>gaC	p.D217D	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.D217D	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	217					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.D217D(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	TGAACCCAGATATAGGAACTG	0.413000													17	113					0	0	0.049695	0	0
GPR112	139378	broad.mit.edu	37	X	135433623	135433623	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:135433623G>C	ENST00000394143.1	+	7	7036	c.6745G>C	c.(6745-6747)Gaa>Caa	p.E2249Q	GPR112_ENST00000412101.1_Missense_Mutation_p.E2044Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E2044Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E2249Q|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2249					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E2249Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTACAATGTTGAAATGAGCTT	0.294000													3	21					0	0	0.004672	0	0
KRT73	319101	broad.mit.edu	37	12	53012171	53012171	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:53012171C>G	ENST00000305748.3	-	1	172	c.138G>C	c.(136-138)cgG>cgC	p.R46R		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	46	Gly-rich.|Head.					keratin filament	structural molecule activity	p.R46R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAAAGGCTCCGACTGCTGA	0.662000													4	132					0	0	0.021553	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507000	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				11	16					0	0	0.020292	0	0
SULF2	55959	broad.mit.edu	37	20	46319006	46319006	+	Missense_Mutation	SNP	C	C	T	rs149783473		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:46319006C>T	ENST00000359930.4	-	5	1452	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	SULF2_ENST00000484875.1_Missense_Mutation_p.V201M|SULF2_ENST00000361612.4_Missense_Mutation_p.V201M|SULF2_ENST00000467815.1_Missense_Mutation_p.V201M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	201					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.V201M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AAGAAGCTCACGCTGTCATTG	0.582000													9	74					0	0	0.069234	0	0
ACP1	52	broad.mit.edu	37	2	277226	277226	+	Splice_Site	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:277226G>T	ENST00000272067.6	+	6	495		c.e6-1		ACP1_ENST00000272065.5_Splice_Site|ACP1_ENST00000484464.1_Splice_Site	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble							cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.?(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		TGTCCATTTAGGGGAATGACT	0.458000													51	156					1.04682e-39	1.32306e-39	0.048971	1	0
C2orf44	80304	broad.mit.edu	37	2	24260579	24260579	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:24260579G>C	ENST00000295148.4	-	2	1843	c.1786C>G	c.(1786-1788)Caa>Gaa	p.Q596E	C2orf44_ENST00000406895.3_Missense_Mutation_p.Q596E	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	596							protein binding	p.Q596E(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGATCTTGAGAGAGTGGA	0.403000			T	ALK	NSCLC								13	215					0	0	0.024245	0	0
OR10A4	283297	broad.mit.edu	37	11	6898297	6898297	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:6898297T>A	ENST00000379829.2	+	1	442	c.419T>A	c.(418-420)aTa>aAa	p.I140K		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I140K(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGGCCACATATCCTGTGCC	0.552000													12	47					0	0	0.080935	0	0
NLE1	54475	broad.mit.edu	37	17	33462471	33462471	+	Splice_Site	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:33462471C>G	ENST00000586869.1	-	9	1155		c.e9-1		NLE1_ENST00000360831.5_Splice_Site|NLE1_ENST00000442241.4_Splice_Site			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)							nucleolus		p.?(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GACCCTGGCCCTAGGGGAGGC	0.567000													13	27					0	0	0.083992	0	0
CHRM3	1131	broad.mit.edu	37	1	240071333	240071333	+	Silent	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:240071333C>A	ENST00000255380.4	+	5	1361	c.582C>A	c.(580-582)gtC>gtA	p.V194V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	194					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.V194V(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGCTTGGGTCATCTCCTTTG	0.507000													8	698					1.76689e-08	1.91985e-08	0.058154	1	0
SNX31	169166	broad.mit.edu	37	8	101608886	101608886	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:101608886C>G	ENST00000311812.2	-	10	1109	c.959G>C	c.(958-960)tGc>tCc	p.C320S	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.C221S	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	320					cell communication|protein transport		phosphatidylinositol binding	p.C320S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GACCTGCCAGCACTTCACCCT	0.493000													56	87					0	0	0.048971	0	0
OR6C1	390321	broad.mit.edu	37	12	55714574	55714574	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:55714574T>C	ENST00000379668.2	+	1	229	c.191T>C	c.(190-192)tTc>tCc	p.F64S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64S(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCAGAAATTTCTCCATATTA	0.403000													15	48					0	0	0.024245	0	0
PDE2A	5138	broad.mit.edu	37	11	72290425	72290425	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:72290425G>A	ENST00000334456.5	-	27	2504	c.2259C>T	c.(2257-2259)gaC>gaT	p.D753D	PDE2A_ENST00000540345.1_Silent_p.D744D|PDE2A_ENST00000376450.3_Silent_p.D497D|PDE2A_ENST00000544570.1_Silent_p.D746D|PDE2A_ENST00000444035.2_Silent_p.D744D|PDE2A_ENST00000418754.2_Silent_p.D638D	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	753	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D753D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TGCGCTGATAGTCCTGAGGCG	0.602000													31	65					0	0	0.037714	0	0
SCARB2	950	broad.mit.edu	37	4	77116918	77116918	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:77116918C>G	ENST00000264896.2	-	2	566	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	SCARB2_ENST00000452464.2_Missense_Mutation_p.E73Q	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	73					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	p.E73Q(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			AGGATCTCCTCTGGATTGGTG	0.488000													7	127					0	0	0.029380	0	0
NUDT2	318	broad.mit.edu	37	9	34339067	34339067	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:34339067C>G	ENST00000379158.2	+	4	388	c.30C>G	c.(28-30)atC>atG	p.I10M	NUDT2_ENST00000346365.4_Missense_Mutation_p.I10M|NUDT2_ENST00000379155.5_Missense_Mutation_p.I10M	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	10	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	p.I10M(1)		lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTTGATCATCTTCCGAAGAT	0.428000													27	145					0	0	0.030593	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76073178	76073178	+	RNA	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:76073178C>A	ENST00000395215.3	+	0	467																		p.Y142*(1)									CCACCCTTTACCATACTAAAC	0.493000													39	107					2.45108e-15	2.89673e-15	0.104719	1	0
ESYT2	57488	broad.mit.edu	37	7	158555808	158555808	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:158555808C>T	ENST00000251527.5	-	10	1359	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	460	C2 1.					integral to membrane|plasma membrane		p.D432N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGGTCTTCATCAAAGAGCTCA	0.358000													9	39					0	0	0.093190	0	0
MORF4L1	10933	broad.mit.edu	37	15	79186452	79186452	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:79186452A>G	ENST00000331268.5	+	11	1003	c.799A>G	c.(799-801)Atg>Gtg	p.M267V	MORF4L1_ENST00000558502.1_Missense_Mutation_p.M140V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.M253V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.M228V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.M140V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.M201V|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	267	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	p.M267V(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						CTTCAACGTAATGTTGGGTAC	0.408000													53	86					0	0	0.048971	0	0
FAT4	79633	broad.mit.edu	37	4	126240611	126240611	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:126240611C>T	ENST00000394329.3	+	1	3058	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1015	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F1015F(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTCTCGATTCTTTAAAGTAC	0.393000													36	67					0	0	0.074837	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72050808	72050808	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:72050808G>A	ENST00000378743.3	-	2	1230	c.872C>T	c.(871-873)aCa>aTa	p.T291I	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.T291I|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.T291I|ZFC3H1_ENST00000549407.1_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	291					RNA processing	intracellular	metal ion binding	p.T291I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGACTTGTGTTTTCTCCTC	0.363000													32	105					0	0	0.045705	0	0
COLGALT2	23127	broad.mit.edu	37	1	183908081	183908081	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:183908081C>A	ENST00000361927.4	-	12	2066	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	COLGALT2_ENST00000367520.3_Missense_Mutation_p.Q302H|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367521.1_Missense_Mutation_p.Q173H	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2									p.Q565H(1)									GGTACCCCGGCTGGCCTGTGT	0.542000													51	138					5.82388e-19	7.01952e-19	0.048971	1	0
C10orf25	220979	broad.mit.edu	37	10	45496131	45496131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:45496131G>T	ENST00000298298.1	-	1	205	c.177C>A	c.(175-177)taC>taA	p.Y59*	ZNF22_ENST00000298299.3_5'UTR	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	59						extracellular region		p.Y59*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						TTTGTGGAAAGTATGCAGTTT	0.473000													12	55					6.72482e-11	7.60197e-11	0.024245	1	0
FAM136A	84908	broad.mit.edu	37	2	70528037	70528037	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:70528037C>G	ENST00000037869.3	-	2	241	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Missense_Mutation_p.E162Q	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	55						mitochondrion	protein binding	p.E55Q(1)|p.E55*(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGGCAGCGCTCGATGCACTGG	0.572000													31	177					0	0	0.041601	0	0
SLC4A10	57282	broad.mit.edu	37	2	162735721	162735721	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:162735721T>A	ENST00000375514.5	+	9	1259	c.972T>A	c.(970-972)gaT>gaA	p.D324E	SLC4A10_ENST00000535165.1_Missense_Mutation_p.D343E|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.D343E|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D313E|SLC4A10_ENST00000421911.1_Missense_Mutation_p.D343E|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D313E	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	343					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.D343E(1)|p.D313E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTTCTTGGATCGAACAGTAG	0.443000													13	66					0	0	0.028581	0	0
AHNAK	79026	broad.mit.edu	37	11	62300197	62300197	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:62300197G>A	ENST00000378024.4	-	5	1966	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	564					nervous system development	nucleus	protein binding	p.T564T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TACAGGTTCCGGTTTTCCCGG	0.517000													35	88					0	0	0.069456	0	0
PBX2	5089	broad.mit.edu	37	6	32156269	32156269	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:32156269C>G	ENST00000375050.4	-	3	578	c.308G>C	c.(307-309)cGg>cCg	p.R103P		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	103							transcription factor binding	p.R103S(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTGGGAGCTCCGAATGCTGAG	0.627000													13	37					0	0	0.105934	0	0
GPR132	29933	broad.mit.edu	37	14	105517957	105517957	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:105517957C>T	ENST00000329797.3	-	4	1428	c.517G>A	c.(517-519)Gtt>Att	p.V173I	GPR132_ENST00000539291.2_Missense_Mutation_p.V173I|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.V164I	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	173					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V173I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGGTAGTGAACGATCCCGACG	0.627000													7	42					0	0	0.020292	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22259492	22259492	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:22259492G>A	ENST00000344041.6	-	9	842	c.530C>T	c.(529-531)tCt>tTt	p.S177F	RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000405243.1_Missense_Mutation_p.S330F	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	p.S177F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TACGTGTTCAGACTTCTCCTG	0.403000													6	71					0	0	0.021553	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													3	29					0	0	0.014758	0	0
RBM19	9904	broad.mit.edu	37	12	114358414	114358414	+	Splice_Site	SNP	A	A	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:114358414A>C	ENST00000545145.2	-	19	2464		c.e19+1		RBM19_ENST00000261741.5_Splice_Site|RBM19_ENST00000392561.3_Splice_Site	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					tcTTCACTTTACCTGGAGCTG	0.522000													7	707					0	0	0.020292	0	0
RTTN	25914	broad.mit.edu	37	18	67697257	67697257	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:67697257C>T	ENST00000255674.6	-	42	6022	c.5736G>A	c.(5734-5736)ttG>ttA	p.L1912L	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1912							binding	p.L1912L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CCTTTTTTTTCAATGCTGCTT	0.398000													10	120					0	0	0.058154	0	0
LPHN3	23284	broad.mit.edu	37	4	62863911	62863911	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:62863911G>T	ENST00000512091.1	+	20	3866	c.3119G>T	c.(3118-3120)gGg>gTg	p.G1040V	LPHN3_ENST00000514996.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000514591.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000514157.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000504896.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000508693.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000506700.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000509896.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000545650.1_Missense_Mutation_p.G1040V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1027					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.G1040V(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATCTTCCTTGGGATTGCTTTA	0.303000													9	29					2.80697e-09	3.08682e-09	0.080935	1	0
PODXL2	50512	broad.mit.edu	37	3	127381120	127381120	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:127381120A>G	ENST00000342480.6	+	4	1211	c.1172A>G	c.(1171-1173)tAc>tGc	p.Y391C		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	391					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	p.Y391C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGAAAAACTACATCATTCTG	0.552000													22	38					0	0	0.108266	0	0
SORCS1	114815	broad.mit.edu	37	10	108431055	108431055	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:108431055C>T	ENST00000263054.6	-	16	2136	c.2129G>A	c.(2128-2130)gGa>gAa	p.G710E	SORCS1_ENST00000369698.1_Missense_Mutation_p.G245E|SORCS1_ENST00000344440.6_Missense_Mutation_p.G710E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	710						integral to membrane	neuropeptide receptor activity|protein binding	p.G710E(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGCATATTTTCCTTGCATACA	0.438000													5	124					0	0	0.014758	0	0
NEMF	9147	broad.mit.edu	37	14	50307515	50307515	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:50307515C>T	ENST00000298310.5	-	5	876	c.427G>A	c.(427-429)Gat>Aat	p.D143N	NEMF_ENST00000546046.1_Missense_Mutation_p.D143N|NEMF_ENST00000545773.1_Missense_Mutation_p.D101N|AL627171.1_ENST00000358799.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor	143						cytoplasm|nucleus		p.D143N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTAACATCATCTGCCTCATCA	0.343000													6	87					0	0	0.038147	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886032	88886032	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:88886032C>G	ENST00000319675.3	-	1	264	c.168G>C	c.(166-168)agG>agC	p.R56S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	56								p.R56S(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGACCTTTTTCCTCTGCATGC	0.502000													45	110					0	0	0.039052	0	0
CNOT6L	246175	broad.mit.edu	37	4	78652569	78652569	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:78652569T>G	ENST00000504123.1	-	9	1126	c.996A>C	c.(994-996)ttA>ttC	p.L332F	CNOT6L_ENST00000264903.4_Missense_Mutation_p.L332F			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	332					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	p.L361F(1)|p.L332F(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGTGGACCTCTAATACCACAG	0.388000													6	15					0	0	0.038147	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858806	149858806	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:149858806G>A	ENST00000331380.2	+	1	282	c.282G>A	c.(280-282)ctG>ctA	p.L94L		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	94					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L94L(2)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACGAGGAACTGAACAAGCTGC	0.582000													17	188					0	0	0.076483	0	0
GALNT8	26290	broad.mit.edu	37	12	4872447	4872447	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:4872447C>G	ENST00000252318.2	+	8	1725	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	463						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S463C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGAGACGTTTCTTCCAGAATG	0.408000													5	119					0	0	0.021553	0	0
DHRS7C	201140	broad.mit.edu	37	17	9684874	9684874	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:9684874C>T	ENST00000330255.4	-	2	204	c.192G>A	c.(190-192)ctG>ctA	p.L64L	DHRS7C_ENST00000571134.1_Silent_p.L64L	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	64						extracellular region	binding|oxidoreductase activity	p.L64L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CACACAGCACCAGCCTTGCCC	0.567000													9	25					0	0	0.080935	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:102292953T>C	ENST00000561463.1	+	0	999																											GGCACAGCGGTGCGACGAGAT	0.587000													3	11					0	0	0.021553	0	0
VMO1	284013	broad.mit.edu	37	17	4689248	4689248	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:4689248C>G	ENST00000328739.5	-	2	374	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	VMO1_ENST00000416307.2_Intron|VMO1_ENST00000354194.4_Intron|VMO1_ENST00000441199.2_Missense_Mutation_p.E99Q	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	99					vitelline membrane formation	extracellular region		p.E99Q(1)		kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GACTGGGACTCTACCACGTGC	0.612000													118	1239					0	0	0.048971	0	0
PYROXD1	79912	broad.mit.edu	37	12	21614019	21614019	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:21614019G>A	ENST00000538582.1	+	8	1351	c.598G>A	c.(598-600)Gag>Aag	p.E200K	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Missense_Mutation_p.E271K			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	271							oxidoreductase activity	p.E271K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CCTTCAGGATGAGTTTAGAAT	0.294000													7	37					0	0	0.038147	0	0
GLIS2	84662	broad.mit.edu	37	16	4382451	4382451	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:4382451C>G	ENST00000262366.3	+	3	991	c.170C>G	c.(169-171)tCa>tGa	p.S57*	GLIS2_ENST00000433375.1_Nonsense_Mutation_p.S57*|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	57	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	p.S57*(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCCCCGCCCTCAGGTACTGGC	0.672000													3	32					0	0	0.014758	0	0
SDPR	8436	broad.mit.edu	37	2	192700900	192700900	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:192700900C>T	ENST00000304141.4	-	2	1356	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	343						caveola|cytosol	phosphatidylserine binding|protein binding	p.A343T(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGAGCGCTGGCGAGGGACGCT	0.552000													59	189					0	0	0.048971	0	0
USH2A	7399	broad.mit.edu	37	1	215848937	215848937	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:215848937C>T	ENST00000366943.2	-	63	12702	c.12316G>A	c.(12316-12318)Ggg>Agg	p.G4106R	USH2A_ENST00000307340.3_Missense_Mutation_p.G4106R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4106	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G4106R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCAGGAACCCGTCACTGAAG	0.473000										HNSCC(13;0.011)			9	72					0	0	0.058154	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228701	204228701	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:204228701T>A	ENST00000272203.3	-	8	1008	c.692A>T	c.(691-693)gAg>gTg	p.E231V	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E251V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	231	Pro-rich.							p.E231L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CACCGGAGGCTCTTTCTTGAC	0.647000													22	114					0	0	0.076483	0	0
KSR1	8844	broad.mit.edu	37	17	25950344	25950344	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:25950344A>C	ENST00000319524.6	+	21	2698	c.2698A>C	c.(2698-2700)Aac>Cac	p.N900H	KSR1_ENST00000398988.3_3'UTR|KSR1_ENST00000578981.1_Missense_Mutation_p.L22F|KSR1_ENST00000268763.6_Missense_Mutation_p.N763H|KSR1_ENST00000582410.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	898					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.N900H(1)|p.N878H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTGCAGCATTAACAGCAGCAA	0.453000													6	29					0	0	0.038147	0	0
MDN1	23195	broad.mit.edu	37	6	90503650	90503650	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:90503650T>A	ENST00000369393.3	-	5	801	c.686A>T	c.(685-687)cAg>cTg	p.Q229L	MDN1_ENST00000428876.1_Missense_Mutation_p.Q229L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	229					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.Q229L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCAAGTCCTGCAACTGGGC	0.498000													19	32					0	0	0.076483	0	0
KEAP1	9817	broad.mit.edu	37	19	10602840	10602840	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:10602840G>C	ENST00000171111.5	-	3	1285	c.738C>G	c.(736-738)ttC>ttG	p.F246L	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.F246L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	246	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.F246L(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)			TGCAGGCGTGGAAGACCTCGG	0.622000													26	42					0	0	0.108266	0	0
FAT3	120114	broad.mit.edu	37	11	92534374	92534374	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:92534374T>C	ENST00000298047.6	+	9	8212	c.8195T>C	c.(8194-8196)aTt>aCt	p.I2732T	FAT3_ENST00000525166.1_Missense_Mutation_p.I2582T|FAT3_ENST00000409404.2_Missense_Mutation_p.I2732T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2732	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.I2732T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCCTGAGGATTTTGCCCAGT	0.468000										TCGA Ovarian(4;0.039)			4	26					0	0	0.014758	0	0
PMFBP1	83449	broad.mit.edu	37	16	72158704	72158704	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:72158704C>A	ENST00000537465.1	-	17	2724	c.2566G>T	c.(2566-2568)Gcc>Tcc	p.A856S	PMFBP1_ENST00000537792.1_Missense_Mutation_p.A17S|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A706S|PMFBP1_ENST00000237353.10_Missense_Mutation_p.A851S			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	856								p.A851S(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTAAGGCGGCCATCTCCTCC	0.572000											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	156					5.32961e-40	6.7595e-40	0.048971	1	0
LRP1B	53353	broad.mit.edu	37	2	140992396	140992396	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:140992396T>C	ENST00000389484.3	-	90	14589	c.13618A>G	c.(13618-13620)Atc>Gtc	p.I4540V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4540					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.I4540V(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)		tttaggtagatgggcggcgct	0.418000										TSP Lung(27;0.18)			11	22					0	0	0.024245	0	0
MAVS	57506	broad.mit.edu	37	20	3845224	3845224	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:3845224C>T	ENST00000428216.2	+	6	1075	c.947C>T	c.(946-948)cCa>cTa	p.P316L	MAVS_ENST00000416600.2_Missense_Mutation_p.P175L|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	316					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	p.P316L(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGCCAACCCAGCATCTGTC	0.572000													16	111					0	0	0.049695	0	0
BICD2	23299	broad.mit.edu	37	9	95481798	95481798	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:95481798G>A	ENST00000356884.6	-	5	1196	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	BICD2_ENST00000375512.3_Missense_Mutation_p.R377W	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	377					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	p.R377W(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGGAGCCCCGCGTGTGCTCC	0.642000													7	22					0	0	0.069234	0	0
ZNF92	168374	broad.mit.edu	37	7	64852924	64852924	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:64852924G>A	ENST00000328747.7	+	2	312	c.113G>A	c.(112-114)aGa>aAa	p.R38K	ZNF92_ENST00000357512.2_Missense_Mutation_p.R38K|ZNF92_ENST00000450302.2_Intron|ZNF92_ENST00000431504.1_Intron	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	38	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R38K(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAGAACTACAGAAACCTGGTC	0.363000													6	176					0	0	0.029380	0	0
MCMBP	79892	broad.mit.edu	37	10	121591603	121591603	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:121591603C>G	ENST00000360003.3	-	15	1892	c.1723G>C	c.(1723-1725)Gat>Cat	p.D575H	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.D573H	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	575					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	p.D575H(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ACAAAGTCATCTTCAACTGCC	0.428000													19	82					0	0	0.049695	0	0
CACNA1C	775	broad.mit.edu	37	12	2614019	2614019	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:2614019C>G	ENST00000399655.1	+	8	1390	c.1125C>G	c.(1123-1125)gcC>gcG	p.A375A	CACNA1C_ENST00000335762.5_Silent_p.A375A|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399606.1_Silent_p.A375A|CACNA1C_ENST00000399595.1_Silent_p.A375A|CACNA1C_ENST00000399629.1_Silent_p.A375A|CACNA1C_ENST00000399637.1_Silent_p.A375A|CACNA1C_ENST00000399591.1_Silent_p.A375A|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000347598.4_Silent_p.A375A|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399649.1_Silent_p.A375A|CACNA1C_ENST00000399601.1_Silent_p.A375A|CACNA1C_ENST00000399644.1_Silent_p.A375A|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000480911.1_Silent_p.A375A|CACNA1C_ENST00000344100.3_Silent_p.A375A|CACNA1C_ENST00000402845.3_Silent_p.A375A|CACNA1C_ENST00000399597.1_Silent_p.A375A|CACNA1C_ENST00000399621.1_Silent_p.A375A|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000327702.7_Silent_p.A375A|CACNA1C_ENST00000399638.1_Silent_p.A375A|CACNA1C_ENST00000399641.1_Intron	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	375					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.A375A(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAATGATGCCGTAGGAAGGG	0.522000													7	37					0	0	0.047766	0	0
ME1	4199	broad.mit.edu	37	6	84025049	84025049	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:84025049G>A	ENST00000369705.3	-	6	800	c.684C>T	c.(682-684)ttC>ttT	p.F228F	ME1_ENST00000543031.1_Silent_p.F153F|ME1_ENST00000541327.1_Silent_p.F62F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	228					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.F228F(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CTGCCTCCATGAATTCGTCCA	0.308000													7	64					0	0	0.058154	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227441855	227441855	+	Splice_Site	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:227441855A>G	ENST00000366769.3	-	2	1471	c.178_splice	c.e2-1	p.A60_splice	CDC42BPA_ENST00000366767.3_Splice_Site_p.A60_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.A60_splice|CDC42BPA_ENST00000366764.2_Splice_Site_p.A60_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.A60_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.A60_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.A60_splice	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	60					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.A60A(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAAATGGTTTAGCTGAAATGA	0.284000													7	54					0	0	0.047766	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19737487	19737487	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr21:19737487T>A	ENST00000284885.3	-	7	776	c.743A>T	c.(742-744)gAa>gTa	p.E248V		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	248	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.E248V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AACACTTGTTTCAGAAGGTTT	0.373000													30	78					0	0	0.059317	0	0
CD99	4267	broad.mit.edu	37	X	2640679	2640679	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:2640679G>T	ENST00000381192.3	+	6	456	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	CD99_ENST00000381184.1_Missense_Mutation_p.D92Y|CD99_ENST00000381187.3_Missense_Mutation_p.D76Y|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	92					cell adhesion	cytoplasm|integral to plasma membrane		p.D92Y(1)|p.D92H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TAGCTTTTCAGATGCTGACCT	0.448000													70	83					9.25274e-37	1.16138e-36	0.048971	1	0
SETX	23064	broad.mit.edu	37	9	135203286	135203286	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:135203286G>C	ENST00000372169.2	-	10	3881	c.3699C>G	c.(3697-3699)atC>atG	p.I1233M	SETX_ENST00000224140.5_Missense_Mutation_p.I1233M|SETX_ENST00000393220.1_Missense_Mutation_p.I1233M			Q7Z333	SETX_HUMAN	senataxin	1233					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.I1233M(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAACTTTCCTGATGGGTTCTG	0.388000													8	144					0	0	0.069234	0	0
KRT4	3851	broad.mit.edu	37	12	53202129	53202129	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:53202129G>A	ENST00000293774.4	-	6	1566	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L	KRT4_ENST00000458244.2_Silent_p.L338L|KRT4_ENST00000551956.1_Silent_p.L358L			B4DRS2	B4DRS2_HUMAN	keratin 4	358						keratin filament	structural molecule activity	p.L432L(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCATCCTGTTGAGCTCTGCAA	0.537000													68	169					0	0	0.048971	0	0
USP33	23032	broad.mit.edu	37	1	78194222	78194222	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:78194222C>A	ENST00000370793.1	-	11	1332	c.986G>T	c.(985-987)aGa>aTa	p.R329I	USP33_ENST00000370794.3_Missense_Mutation_p.R298I|USP33_ENST00000357428.1_Missense_Mutation_p.R329I|USP33_ENST00000370792.3_Missense_Mutation_p.R329I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	329					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R329I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATTTTCTGCTCTATCACTGTT	0.368000													36	70					6.19805e-25	7.64776e-25	0.080422	1	0
LAMA2	3908	broad.mit.edu	37	6	129762061	129762061	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:129762061C>T	ENST00000421865.2	+	43	6235	c.6186C>T	c.(6184-6186)ctC>ctT	p.L2062L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2062	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2062L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCAGAACCTCGATGGCCTGA	0.443000													4	74					0	0	0.014758	0	0
KCNS2	3788	broad.mit.edu	37	8	99440859	99440859	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:99440859C>A	ENST00000287042.4	+	2	1002	c.652C>A	c.(652-654)Cag>Aag	p.Q218K	KCNS2_ENST00000521839.1_Missense_Mutation_p.Q218K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	218						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Q218K(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCCTGACAGCCAGGGCAACCC	0.572000													52	99					1.10885e-35	1.38701e-35	0.048971	1	0
DUOX2	50506	broad.mit.edu	37	15	45387213	45387213	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:45387213T>A	ENST00000389039.6	-	32	4701	c.4316A>T	c.(4315-4317)aAc>aTc	p.N1439I	DUOX2_ENST00000603300.1_Missense_Mutation_p.N1439I			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1439					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.N1439I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGGTGGTCGTTCTCCTCCAC	0.572000													22	35					0	0	0.069288	0	0
LIN7C	55327	broad.mit.edu	37	11	27528274	27528274	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:27528274C>G	ENST00000278193.2	-	1	46	c.26G>C	c.(25-27)cGg>cCg	p.R9P	LIN7C_ENST00000524596.1_Missense_Mutation_p.R9P	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	9					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction		p.R9P(1)		endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCTCTCCAGCCGCACGGGTTC	0.667000													14	72					0	0	0.028581	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237774	132237774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:132237774G>T	ENST00000321253.6	+	4	615	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	170					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A170S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCTAGAGTTTGCCATTTACCC	0.577000													13	336					2.89027e-11	3.28768e-11	0.069288	1	0
SPTA1	6708	broad.mit.edu	37	1	158596650	158596650	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:158596650C>T	ENST00000368148.3	-	41	5992	c.5812G>A	c.(5812-5814)Gat>Aat	p.D1938N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1935N|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1938					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1938N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTACCACATCAGCCTTCCAG	0.468000													4	144					0	0	0.009096	0	0
ATP2A1	487	broad.mit.edu	37	16	28914369	28914369	+	Silent	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:28914369C>A	ENST00000395503.4	+	20	2947	c.2763C>A	c.(2761-2763)tcC>tcA	p.S921S	ATP2A1_ENST00000536376.1_Silent_p.S796S|ATP2A1_ENST00000357084.3_Silent_p.S921S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	921					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.S921S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGAACCAGTCCCTGCTGCGGA	0.637000													6	105					0.0581538	0.0591284	0.058154	1	0
DYDC2	84332	broad.mit.edu	37	10	82126613	82126613	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:82126613A>T	ENST00000372199.1	+	6	1038	c.440A>T	c.(439-441)cAg>cTg	p.Q147L	DYDC2_ENST00000256039.2_Missense_Mutation_p.Q147L|DYDC2_ENST00000372197.1_Missense_Mutation_p.Q147L|DYDC2_ENST00000372198.1_Missense_Mutation_p.Q161L|DYDC2_ENST00000444807.2_Missense_Mutation_p.Q147L			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	147							protein binding	p.Q147L(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CAGATTGACCAGAACTTCAAA	0.458000													60	155					0	0	0.048971	0	0
WBP1L	54838	broad.mit.edu	37	10	104573073	104573073	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:104573073C>G	ENST00000369889.4	+	4	1156	c.1014C>G	c.(1012-1014)agC>agG	p.S338R	WBP1L_ENST00000448841.1_Missense_Mutation_p.S359R	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	338	Poly-Ser.					integral to membrane		p.S338R(1)									CCCAGAGCAGCAGCTCCCCCA	0.612000													11	26					0	0	0.093190	0	0
DNAH2	146754	broad.mit.edu	37	17	7640477	7640477	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:7640477C>T	ENST00000572933.1	+	8	2531	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	DNAH2_ENST00000570791.1_Silent_p.I357I|DNAH2_ENST00000389173.2_Silent_p.I357I|DNAH2_ENST00000082259.3_Silent_p.I357I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	357	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I357I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCAAGGACATCTCTAGCAAGC	0.517000													16	92					0	0	0.024245	0	0
SERPINA4	5267	broad.mit.edu	37	14	95034512	95034512	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:95034512T>G	ENST00000557004.1	+	4	1391	c.970T>G	c.(970-972)Tct>Gct	p.S324A	SERPINA4_ENST00000298841.5_Missense_Mutation_p.S324A|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.S324A			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	324					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.S324A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GTTCTCCATTTCTGGCTCCTA	0.443000													44	262					0	0	0.048971	0	0
SORBS1	10580	broad.mit.edu	37	10	97174268	97174268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:97174268C>A	ENST00000371247.2	-	9	982	c.793G>T	c.(793-795)Gga>Tga	p.G265*	SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371245.3_Nonsense_Mutation_p.G196*|SORBS1_ENST00000371227.4_Nonsense_Mutation_p.G265*|SORBS1_ENST00000353505.5_Nonsense_Mutation_p.G196*|SORBS1_ENST00000277982.5_Nonsense_Mutation_p.G265*|SORBS1_ENST00000393949.1_Nonsense_Mutation_p.G256*|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000354106.3_Nonsense_Mutation_p.G256*|SORBS1_ENST00000361941.3_Nonsense_Mutation_p.G265*|SORBS1_ENST00000371246.2_Nonsense_Mutation_p.G265*|SORBS1_ENST00000371249.2_Nonsense_Mutation_p.G233*|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	265					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.G196*(1)|p.G265*(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAAACAGCTCCCGTGAGGTCA	0.602000													38	89					9.8876e-21	1.20371e-20	0.074837	1	0
POMK	84197	broad.mit.edu	37	8	42977285	42977285	+	Silent	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:42977285A>G	ENST00000331373.5	+	5	573	c.318A>G	c.(316-318)gcA>gcG	p.A106A		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		106	Protein kinase.					integral to membrane	ATP binding|protein kinase activity	p.A106A(2)									ACAAAGTTGCACTCTCACAGC	0.483000													345	148					0	0	0.048971	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27936421	27936421	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:27936421G>A	ENST00000394859.3	+	7	958	c.804G>A	c.(802-804)gtG>gtA	p.V268V	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	268								p.V268V(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CGGAGATGGTGAATGGGTATG	0.607000													4	58					0	0	0.014758	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726567	3726567	+	Silent	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:3726567G>T	ENST00000254963.2	+	7	709	c.564G>T	c.(562-564)ctG>ctT	p.L188L	HSPA12B_ENST00000542646.1_Silent_p.L22L	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	188							ATP binding	p.L188L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ACCAGGAGCTGAGGGAGCAGA	0.597000													9	148					5.16669e-11	5.8588e-11	0.080935	1	0
RAI14	26064	broad.mit.edu	37	5	34824141	34824141	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:34824141G>C	ENST00000265109.3	+	15	2481	c.2194G>C	c.(2194-2196)Gaa>Caa	p.E732Q	RAI14_ENST00000506376.1_Missense_Mutation_p.E724Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E725Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E732Q|RAI14_ENST00000503673.1_Missense_Mutation_p.E732Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E735Q|RAI14_ENST00000512629.1_Missense_Mutation_p.E703Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	732						cell cortex|cytoskeleton	protein binding	p.E732Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCTATCACAGAACATTTGCA	0.413000													5	81					0	0	0.021553	0	0
TMTC4	84899	broad.mit.edu	37	13	101257341	101257341	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr13:101257341G>C	ENST00000342624.5	-	19	2448	c.2190C>G	c.(2188-2190)atC>atG	p.I730M	TMTC4_ENST00000376234.3_Missense_Mutation_p.I711M|TMTC4_ENST00000328767.5_Missense_Mutation_p.I600M	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	711						integral to membrane	binding	p.I730I(2)|p.I730M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGCAAGGAGATTTCATAGT	0.433000													28	133					0	0	0.030593	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024056	14024056	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:14024056G>A	ENST00000318003.7	+	5	695	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E152K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	152					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	p.E152K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GACAGCAATTGAAAGCGCCAG	0.637000													3	26					0	0	0.014758	0	0
UNC5D	137970	broad.mit.edu	37	8	35584047	35584047	+	Splice_Site	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:35584047G>A	ENST00000287272.2	+	9	1494	c.1474_splice	c.e9+1	p.G492_splice	UNC5D_ENST00000416672.1_Splice_Site_p.G566_splice|UNC5D_ENST00000404895.2_Splice_Site_p.G561_splice|UNC5D_ENST00000420357.1_Splice_Site_p.G494_splice|UNC5D_ENST00000453357.2_Splice_Site_p.G556_splice|UNC5D_ENST00000449677.1_Splice_Site_p.G137_splice			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	561					apoptosis|axon guidance	integral to membrane	receptor activity	p.G556R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCAAATACAGGTGGGTGGTA	0.418000													7	297					0	0	0.038147	0	0
CABP1	9478	broad.mit.edu	37	12	121098634	121098634	+	Silent	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:121098634T>A	ENST00000453000.1	+	4	1250	c.738T>A	c.(736-738)gcT>gcA	p.A246A	CABP1_ENST00000288616.3_Silent_p.A167A|CABP1_ENST00000316803.3_Silent_p.A310A|CABP1_ENST00000351200.2_Silent_p.A107A			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	310	EF-hand 1.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	p.A310A(1)|p.A167A(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCGAGATGCTTTCCGAGAGG	0.498000													68	197					0	0	0.048971	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268875	44268875	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:44268875G>C	ENST00000315087.7	-	4	979	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.L143V|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.L76V	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	107					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		p.L107V(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CACCTGGACAGAGTAGACCTG	0.572000													19	40					0	0	0.062417	0	0
PXMP4	11264	broad.mit.edu	37	20	32302524	32302524	+	Silent	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:32302524C>A	ENST00000409299.3	-	2	224	c.132G>T	c.(130-132)cgG>cgT	p.R44R	PXMP4_ENST00000217398.3_Silent_p.R44R|PXMP4_ENST00000344022.3_Silent_p.R44R	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	44						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	p.R44L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CGTGAGGGGCCCGGATTTTGG	0.502000													77	150					3.76144e-29	4.67292e-29	0.048971	1	0
VWA5A	4013	broad.mit.edu	37	11	124007327	124007327	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:124007327G>C	ENST00000456829.2	+	14	1822	c.1571G>C	c.(1570-1572)gGc>gCc	p.G524A	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.G524A	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	524								p.G524A(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ACACTCCAGGGCAAGACTTTT	0.433000													86	92					0	0	0.048971	0	0
ACE	1636	broad.mit.edu	37	17	61559074	61559074	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:61559074G>C	ENST00000290866.4	+	7	1117	c.1093G>C	c.(1093-1095)Gac>Cac	p.D365H	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.D365H|ACE_ENST00000538928.1_Missense_Mutation_p.D365H	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	365	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.D365H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCGGCTTGGGACTTCTACAA	0.647000													6	156					0	0	0.047766	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692714	44692714	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:44692714C>T	ENST00000381176.4	-	3	251	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	40						integral to membrane		p.R40H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				AAAGTGGTAGCGGCCTTTGTG	0.547000													11	332					0	0	0.093190	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101241	80101241	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:80101241G>A	ENST00000466387.1	+	10	1349	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	CTNNA2_ENST00000540488.1_Missense_Mutation_p.A209T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A209T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A209T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A209T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A243T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	209					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.A209T(4)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GATGGCAGCCGCCCGAGGGGC	0.512000													14	48					0	0	0.020292	0	0
CLK1	1195	broad.mit.edu	37	2	201718134	201718134	+	Silent	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:201718134G>C	ENST00000434813.2	-	13	1810	c.1476C>G	c.(1474-1476)ctC>ctG	p.L492L	CLK1_ENST00000321356.4_Silent_p.L450L|CLK1_ENST00000409769.2_Silent_p.L273L	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	450					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.L492L(1)|p.L450L(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGAGGTCAAAGAGACGCTCAT	0.363000													8	93					0	0	0.038147	0	0
S100A13	6284	broad.mit.edu	37	1	153598847	153598847	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:153598847G>A	ENST00000368699.1	-	4	605	c.102C>T	c.(100-102)agC>agT	p.S34S	S100A13_ENST00000392623.1_Silent_p.S34S|S100A13_ENST00000392622.1_Silent_p.S34S|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000440685.2_Silent_p.S34S|S100A13_ENST00000339556.4_Silent_p.S34S|RP1-178F15.5_ENST00000497086.1_RNA	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	34	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding	p.S34S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	ACTCGTTGACGCTGAGGCTAT	0.532000													51	522					0	0	0.048971	0	0
PXMP4	11264	broad.mit.edu	37	20	32302525	32302525	+	Missense_Mutation	SNP	C	C	A	rs142263400		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:32302525C>A	ENST00000409299.3	-	2	223	c.131G>T	c.(130-132)cGg>cTg	p.R44L	PXMP4_ENST00000217398.3_Missense_Mutation_p.R44L|PXMP4_ENST00000344022.3_Missense_Mutation_p.R44L	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	44						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	p.R44L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GTGAGGGGCCCGGATTTTGGC	0.502000													76	150					1.42536e-29	1.77681e-29	0.048971	1	0
PGK2	5232	broad.mit.edu	37	6	49753774	49753774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:49753774G>T	ENST00000304801.3	-	1	1279	c.1127C>A	c.(1126-1128)aCt>aAt	p.T376N		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	376					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.T376N(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCAAGTAGCAGTGTCTCCACC	0.488000													81	218					1.19347e-43	1.51896e-43	0.048971	1	0
INTS9	55756	broad.mit.edu	37	8	28654152	28654152	+	Silent	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:28654152G>C	ENST00000416984.2	-	8	1061	c.702C>G	c.(700-702)ctC>ctG	p.L234L	INTS9_ENST00000397363.4_Silent_p.L149L|INTS9_ENST00000521022.1_Silent_p.L255L|INTS9_ENST00000521777.1_Silent_p.L231L	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	255					snRNA processing	integrator complex	protein binding	p.L255L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGCTGTTTTTGAGAGAAGCTT	0.433000													25	34					0	0	0.083992	0	0
GPI	2821	broad.mit.edu	37	19	34868423	34868423	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:34868423G>T	ENST00000356487.5	+	5	659	c.418G>T	c.(418-420)Gac>Tac	p.D140Y	GPI_ENST00000586425.1_Missense_Mutation_p.D140Y|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	140					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	p.D140Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCGGAGCGGTGACTGGAAGGG	0.582000													33	110					1.15183e-24	1.41644e-24	0.111260	1	0
ACBD5	91452	broad.mit.edu	37	10	27512279	27512279	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:27512279C>T	ENST00000396271.3	-	5	604	c.478G>A	c.(478-480)Gat>Aat	p.D160N	ACBD5_ENST00000375897.3_Missense_Mutation_p.D51N|ACBD5_ENST00000375901.1_Missense_Mutation_p.D51N|ACBD5_ENST00000375905.4_Missense_Mutation_p.D125N|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.D158N	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	158					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.D125N(1)|p.D160N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GAGGTTATATCAGAACTCCTG	0.313000													4	90					0	0	0.009096	0	0
FAT1	2195	broad.mit.edu	37	4	187627769	187627769	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:187627769G>A	ENST00000441802.2	-	2	3422	c.3213C>T	c.(3211-3213)taC>taT	p.Y1071Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1071	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.Y1071Y(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTCTAATGGAGTATCGGATCT	0.433000										HNSCC(5;0.00058)			45	140					0	0	0.048971	0	0
LRRC47	57470	broad.mit.edu	37	1	3699302	3699302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:3699302C>A	ENST00000378251.1	-	5	1363	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	446					translation		phenylalanine-tRNA ligase activity|RNA binding	p.E446*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGGTAATTTTCATTTCCATCC	0.443000													6	85					0.00448238	0.004609	0.047766	1	0
DRC1	92749	broad.mit.edu	37	2	26624954	26624954	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:26624954C>G	ENST00000288710.2	+	1	171	c.97C>G	c.(97-99)Cag>Gag	p.Q33E		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.Q33E(1)									CGACAACTCTCAGGAGCGCAT	0.716000													3	27					0	0	0.009096	0	0
MYH8	4626	broad.mit.edu	37	17	10298621	10298621	+	Silent	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:10298621C>A	ENST00000403437.2	-	34	4885	c.4791G>T	c.(4789-4791)gtG>gtT	p.V1597V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1597					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.V1597V(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCATTGTCTCCACGACTCTAG	0.423000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				19	107					3.5997e-14	4.21315e-14	0.069288	1	0
CDK15	65061	broad.mit.edu	37	2	202737000	202737000	+	Splice_Site	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:202737000G>A	ENST00000450471.2	+	11	1095		c.e11-1		CDK15_ENST00000434439.1_Splice_Site|CDK15_ENST00000260967.2_Splice_Site|CDK15_ENST00000410091.3_Splice_Site|CDK15_ENST00000374598.4_Splice_Site	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15								ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	p.?(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ATGCTTCCCAGAATGGTTCCC	0.433000													4	130					0	0	0.009096	0	0
ERCC3	2071	broad.mit.edu	37	2	128018852	128018852	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:128018852G>A	ENST00000493187.2	-	13	2287	c.1824C>T	c.(1822-1824)taC>taT	p.Y608Y	ERCC3_ENST00000285398.2_Silent_p.Y672Y			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	672	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	p.Y672Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCTTGGTTGAGTAAGCCATTT	0.438000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	100					0	0	0.009096	0	0
PBX2	5089	broad.mit.edu	37	6	32156270	32156270	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:32156270G>A	ENST00000375050.4	-	3	577	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	103							transcription factor binding	p.R103S(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TGGGAGCTCCGAATGCTGAGG	0.632000													13	36					0	0	0.105934	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473002	22473002	+	RNA	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:22473002G>A	ENST00000557788.2	-	0	268																											CTTGTCTACTGATATGGTGAC	0.577000													19	305					0	0	0.055883	0	0
PRKCB	5579	broad.mit.edu	37	16	23847552	23847552	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:23847552G>T	ENST00000303531.7	+	1	208	c.56G>T	c.(55-57)cGc>cTc	p.R19L	PRKCB_ENST00000321728.7_Missense_Mutation_p.R19L|PRKCB_ENST00000498058.1_Missense_Mutation_p.R19L	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	19					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.R19L(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGCACCGTGCGCTTCGCCCGC	0.706000													15	33					3.41278e-10	3.79894e-10	0.033300	1	0
TUBA3E	112714	broad.mit.edu	37	2	130951907	130951907	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:130951907C>A	ENST00000312988.7	-	4	608	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	170					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.A170S(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGGTAAATGGCAAACTCTAGC	0.567000													24	125					7.26314e-15	8.55593e-15	0.034045	1	0
LRFN5	145581	broad.mit.edu	37	14	42355929	42355929	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:42355929C>A	ENST00000554171.1	+	5	2533	c.101C>A	c.(100-102)gCa>gAa	p.A34E	LRFN5_ENST00000554120.1_Missense_Mutation_p.A34E|LRFN5_ENST00000298119.4_Missense_Mutation_p.A34E			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	34	LRRNT.					integral to membrane		p.A34E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCTAATCTTGCAACCCTTTGT	0.378000										HNSCC(30;0.082)			12	44					0.000151284	0.00015824	0.105934	1	0
KCND2	3751	broad.mit.edu	37	7	119915637	119915637	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:119915637G>A	ENST00000331113.4	+	1	1916	c.951G>A	c.(949-951)ctG>ctA	p.L317L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	317					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.L317L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGTACACACTGAAGAGTTGTG	0.522000													11	104					0	0	0.105934	0	0
DDX23	9416	broad.mit.edu	37	12	49231355	49231355	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:49231355C>T	ENST00000308025.3	-	7	784	c.705G>A	c.(703-705)caG>caA	p.Q235Q	DDX23_ENST00000553182.1_Intron	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	235	Glu-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.Q235Q(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCCGGATCTTCTGCCGCCCTT	0.517000													10	117					0	0	0.058154	0	0
AKAP9	10142	broad.mit.edu	37	7	91737903	91737903	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:91737903C>T	ENST00000359028.2	+	49	11879	c.11654C>T	c.(11653-11655)aCt>aTt	p.T3885I	AKAP9_ENST00000358100.2_Missense_Mutation_p.T3831I|AKAP9_ENST00000356239.3_Missense_Mutation_p.T3881I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3885					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.T3885I(1)|p.T3881I(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATTATATCACTCGGCTAGAG	0.488000			T	BRAF	papillary thyroid								11	97					0	0	0.080935	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188577	37188577	+	RNA	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:37188577T>G	ENST00000425901.2	+	0	2419					NR_033753.2																						ACATATGTGATCTCTGTACCT	0.517000													4	161					0	0	0.038147	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													5	31					0	0	0.021553	0	0
KIF6	221458	broad.mit.edu	37	6	39512386	39512386	+	Silent	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:39512386T>C	ENST00000287152.7	-	12	1465	c.1371A>G	c.(1369-1371)aaA>aaG	p.K457K	KIF6_ENST00000373215.3_Silent_p.K457K|KIF6_ENST00000373216.3_Silent_p.K457K|KIF6_ENST00000373213.4_Silent_p.K296K|KIF6_ENST00000538893.1_Silent_p.K457K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	457					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.K457K(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTCTTCTTCTTTTAATGGTT	0.338000													6	63					0	0	0.021553	0	0
NUCKS1	64710	broad.mit.edu	37	1	205689671	205689671	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:205689671C>T	ENST00000367142.4	-	5	642	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	114						nucleus		p.E114K(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGTTCTTCCTCACTGCCCACA	0.433000													13	150					0	0	0.105934	0	0
OR2C3	81472	broad.mit.edu	37	1	247695011	247695011	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:247695011G>C	ENST00000366487.3	-	2	1164	c.803C>G	c.(802-804)tCc>tGc	p.S268C	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S267C(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTGCTCATGGGAGGTGCTCTT	0.532000													7	107					0	0	0.058154	0	0
FAM83E	54854	broad.mit.edu	37	19	49116501	49116501	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:49116501C>T	ENST00000263266.3	-	1	318	c.129G>A	c.(127-129)gcG>gcA	p.A43A		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	43								p.A43A(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGAACGCCTCCGCGCCCTTGC	0.667000													5	35					0	0	0.038147	0	0
NTF4	4909	broad.mit.edu	37	19	49564715	49564715	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:49564715C>G	ENST00000301411.3	-	2	680	c.540G>C	c.(538-540)ttG>ttC	p.L180F	NTF4_ENST00000451356.2_Intron|NTF4_ENST00000593537.1_Missense_Mutation_p.L180F	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	180					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	p.L180F(1)		kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CATCAGCGGTCAATGCCCGCA	0.657000													5	91					0	0	0.014758	0	0
LARP4	113251	broad.mit.edu	37	12	50829374	50829374	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:50829374A>G	ENST00000398473.2	+	5	614	c.502A>G	c.(502-504)Aca>Gca	p.T168A	LARP4_ENST00000347328.5_Missense_Mutation_p.T168A|LARP4_ENST00000429001.3_Missense_Mutation_p.T174A|LARP4_ENST00000522085.1_Missense_Mutation_p.T168A|LARP4_ENST00000518444.1_Missense_Mutation_p.T167A|LARP4_ENST00000293618.8_Missense_Mutation_p.T168A|LARP4_ENST00000518561.1_Missense_Mutation_p.T98A	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	168	HTH La-type RNA-binding.						nucleotide binding|RNA binding	p.T168A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AAAGTTGACTACAGACCCTGA	0.294000													35	70					0	0	0.069456	0	0
KLHDC10	23008	broad.mit.edu	37	7	129736765	129736765	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:129736765G>C	ENST00000335420.5	+	2	305	c.171G>C	c.(169-171)aaG>aaC	p.K57N		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	57								p.K57N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TAACAGGTAAGAAGAAAATAC	0.383000													4	42					0	0	0.014758	0	0
OR4A15	81328	broad.mit.edu	37	11	55136023	55136023	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:55136023G>T	ENST00000314706.3	+	1	664	c.664G>T	c.(664-666)Gtc>Ttc	p.V222F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V222F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAATACCTATGTCACTGGGCT	0.418000													15	96					8.60227e-14	1.0036e-13	0.028581	1	0
NUP43	348995	broad.mit.edu	37	6	150064778	150064778	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:150064778T>A	ENST00000340413.2	-	3	393	c.317A>T	c.(316-318)aAc>aTc	p.N106I	NUP43_ENST00000463048.3_5'UTR|NUP43_ENST00000460354.2_Missense_Mutation_p.N106I|NUP43_ENST00000367404.4_Missense_Mutation_p.N106I|NUP43_ENST00000367403.3_Missense_Mutation_p.N167I	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	106					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.N106I(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CTTTACCTGGTTATTTGGATG	0.393000													16	23					0	0	0.049695	0	0
WDFY3	23001	broad.mit.edu	37	4	85716111	85716111	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:85716111C>G	ENST00000322366.6	-	20	3596	c.3189G>C	c.(3187-3189)ttG>ttC	p.L1063F	WDFY3_ENST00000295888.4_Missense_Mutation_p.L1063F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1063						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.L1063_A1064>FS(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TATGAGGGGCCAAACTGGGCA	0.388000													8	18					0	0	0.093190	0	0
WAC	51322	broad.mit.edu	37	10	28905133	28905133	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:28905133C>T	ENST00000375664.3	+	12	2062	c.1453C>T	c.(1453-1455)Cat>Tat	p.H485Y	WAC_ENST00000347934.4_Missense_Mutation_p.H427Y|WAC_ENST00000354911.4_Missense_Mutation_p.H530Y|WAC_ENST00000375646.1_Missense_Mutation_p.H378Y			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	530					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	p.H530Y(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGGTCCCAATCATACTTCTAA	0.408000													17	170					0	0	0.043863	0	0
SPTLC3	55304	broad.mit.edu	37	20	13053003	13053003	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:13053003G>T	ENST00000399002.2	+	3	677	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W	SPTLC3_ENST00000378194.4_Missense_Mutation_p.G135W	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	135					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.G135W(1)|p.G108W(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CAGTGCCCCAGGGCCTCTGTT	0.438000													71	394					5.71386e-39	7.1967e-39	0.048971	1	0
MDN1	23195	broad.mit.edu	37	6	90438775	90438775	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:90438775C>A	ENST00000369393.3	-	36	5339	c.5224G>T	c.(5224-5226)Gct>Tct	p.A1742S	MDN1_ENST00000428876.1_Missense_Mutation_p.A1742S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1742					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.A1742S(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTTGGTAGCTCTTAAGAGC	0.478000													7	65					0.00198382	0.00204564	0.029380	1	0
RYR1	6261	broad.mit.edu	37	19	39023335	39023335	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:39023335G>A	ENST00000355481.4	+	77	11334	c.11203G>A	c.(11203-11205)Gag>Aag	p.E3735K	RYR1_ENST00000359596.3_Missense_Mutation_p.E3740K|RYR1_ENST00000360985.3_Missense_Mutation_p.E3740K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3740					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3740K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGGAGGGGAGAACGGTGA	0.602000													42	82					0	0	0.048971	0	0
DSCAML1	57453	broad.mit.edu	37	11	117647510	117647510	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:117647510G>A	ENST00000321322.6	-	3	688	c.687C>T	c.(685-687)atC>atT	p.I229I	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	169	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.I229I(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTACCTGGGATGATGGAGA	0.537000													7	83					0	0	0.047766	0	0
TPTE	7179	broad.mit.edu	37	21	10951323	10951323	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr21:10951323G>A	ENST00000298232.7	-	9	702	c.335C>T	c.(334-336)tCt>tTt	p.S112F	TPTE_ENST00000342420.5_Missense_Mutation_p.S92F|TPTE_ENST00000361285.4_Missense_Mutation_p.S130F|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	130					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S130F(1)|p.S112F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATAGCTAGAGAAATAGAACG	0.343000													23	91					0	0	0.091800	0	0
DNAH9	1770	broad.mit.edu	37	17	11597208	11597208	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:11597208C>T	ENST00000262442.3	+	21	4706	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	DNAH9_ENST00000454412.2_Silent_p.I1546I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1546	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1546I(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGAAGGCATCGACATTGACT	0.428000													23	94					0	0	0.099896	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013194	149013194	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:149013194C>A	ENST00000535454.1	+	4	697	c.148C>A	c.(148-150)Ctt>Att	p.L50I	MAGEA8_ENST00000542674.1_Missense_Mutation_p.L50I|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.L50I	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	50								p.L50I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CATGGGAACCCTTGAGGAGGT	0.577000													16	11					5.35267e-07	5.76441e-07	0.043863	1	0
ODF2	4957	broad.mit.edu	37	9	131262373	131262373	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:131262373C>A	ENST00000303890.5	+	23	2842	c.2257C>A	c.(2257-2259)Caa>Aaa	p.Q753K	ODF2_ENST00000372796.4_Missense_Mutation_p.Q777K|ODF2_ENST00000434106.2_Missense_Mutation_p.Q777K|ODF2_ENST00000351030.3_Missense_Mutation_p.Q772K|ODF2_ENST00000372807.5_Missense_Mutation_p.Q772K|ODF2_ENST00000444119.2_Missense_Mutation_p.Q753K	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	777					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.Q777K(1)|p.Q753K(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GAGCCGGCTGCAAGACCTGAA	0.547000													29	73					0.000147802	0.000155043	0.030593	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29437671	29437671	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:29437671C>G	ENST00000283351.4	-	20	3355	c.3020G>C	c.(3019-3021)gGc>gCc	p.G1007A	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G953A	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1007					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.G1007A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACTTCCTGTGCCAATGCCAAA	0.493000													29	73					0	0	0.054565	0	0
LARGE	9215	broad.mit.edu	37	22	33700318	33700318	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:33700318C>T	ENST00000354992.2	-	13	2198	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	LARGE_ENST00000337431.2_Missense_Mutation_p.V491M|LARGE_ENST00000397394.2_Missense_Mutation_p.V543M|LARGE_ENST00000402320.1_Missense_Mutation_p.V491M|LARGE_ENST00000452586.2_Missense_Mutation_p.V342M|LARGE_ENST00000437602.2_Missense_Mutation_p.V543M	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	543					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.V543M(2)|p.V543L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGCAGGTTCACGGGGTAGAAC	0.572000													34	116					0	0	0.080422	0	0
TTC17	55761	broad.mit.edu	37	11	43411289	43411289	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:43411289G>A	ENST00000039989.4	+	3	351	c.337G>A	c.(337-339)Gac>Aac	p.D113N	TTC17_ENST00000299240.6_Missense_Mutation_p.D113N	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	113							binding	p.D113N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGAAGACCCAGACTGCATCAA	0.408000													13	145					0	0	0.020292	0	0
LRRC7	57554	broad.mit.edu	37	1	70541760	70541760	+	Splice_Site	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:70541760G>T	ENST00000310961.5	+	24	4409	c.3990_splice	c.e24-1	p.A1331_splice	LRRC7_ENST00000035383.5_Splice_Site_p.A1373_splice|LRRC7_ENST00000415775.2_Splice_Site_p.A657_splice			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1373						centrosome|focal adhesion|nucleolus	protein binding	p.A1373S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCTCCACAGGCAGGCAGCCA	0.493000													19	28					1.96292e-10	2.19173e-10	0.055883	1	0
ZNF195	7748	broad.mit.edu	37	11	3381328	3381328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:3381328C>A	ENST00000354599.6	-	4	798	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Nonsense_Mutation_p.E281*|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Nonsense_Mutation_p.E236*|ZNF195_ENST00000399602.4_Nonsense_Mutation_p.E304*|ZNF195_ENST00000343338.7_Nonsense_Mutation_p.E236*|ZNF195_ENST00000526601.1_Nonsense_Mutation_p.E285*	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	304	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E232*(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGTTACATTCTTGACACTTG	0.368000													24	132					1.1804e-14	1.38601e-14	0.091800	1	0
LIMK2	3985	broad.mit.edu	37	22	31658126	31658126	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:31658126C>G	ENST00000331728.4	+	6	672	c.558C>G	c.(556-558)aaC>aaG	p.N186K	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.N165K|LIMK2_ENST00000406516.1_Missense_Mutation_p.N108K|LIMK2_ENST00000340552.4_Missense_Mutation_p.N165K	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	186	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.N186K(1)|p.N165K(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCAGGGTCAACCGGATGCACA	0.567000													27	162					0	0	0.034045	0	0
ZNF324	25799	broad.mit.edu	37	19	58983439	58983439	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:58983439C>T	ENST00000536459.2	+	4	2289	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	ZNF324_ENST00000196482.3_Missense_Mutation_p.S527L|ZNF324_ENST00000535298.1_Missense_Mutation_p.S304L			O75467	Z324A_HUMAN	zinc finger protein 324	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S527L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCGGGGCATCATCAGAAGGT	0.692000													5	41					0	0	0.014758	0	0
C9orf3	84909	broad.mit.edu	37	9	97555120	97555120	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:97555120G>C	ENST00000375315.2	+	3	1038	c.1038G>C	c.(1036-1038)tgG>tgC	p.W346C	C9orf3_ENST00000277198.2_Missense_Mutation_p.W346C|C9orf3_ENST00000297979.5_Missense_Mutation_p.W346C	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	346					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.W346C(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGGGATGCTGGACAGAAATGA	0.453000													26	319					0	0	0.099896	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735252	110735252	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:110735252A>G	ENST00000331565.4	+	8	1716	c.1231A>G	c.(1231-1233)Acc>Gcc	p.T411A	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	411					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.T411A(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGTCATCATGACCGTGAAGGA	0.592000													15	56					0	0	0.024245	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417681	105417681	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:105417681C>T	ENST00000333244.5	-	7	4226	c.4107G>A	c.(4105-4107)ggG>ggA	p.G1369G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1369						nucleus		p.G1369G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAGGTCCCCCTGCATGG	0.647000													9	5					0	0	0.033300	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													4	63					0	0	0.014758	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012878	73012878	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:73012878C>G	ENST00000308744.6	+	4	1016	c.918C>G	c.(916-918)taC>taG	p.Y306*	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Y207*|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Y204*	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	306					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.Y306*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GTCCAGTCTACTGGTGCCGGG	0.463000													9	80					0	0	0.069234	0	0
AARS2	57505	broad.mit.edu	37	6	44274243	44274243	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:44274243C>A	ENST00000244571.4	-	8	1178	c.1176G>T	c.(1174-1176)agG>agT	p.R392S	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	392					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	p.R392S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GGGCTGAGTTCCTTTGCAGTT	0.592000													33	830					1.76533e-06	1.89551e-06	0.064281	1	0
DNAH2	146754	broad.mit.edu	37	17	7646444	7646444	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:7646444G>C	ENST00000572933.1	+	12	3348	c.1888G>C	c.(1888-1890)Gat>Cat	p.D630H	DNAH2_ENST00000570791.1_Missense_Mutation_p.D712H|DNAH2_ENST00000389173.2_Missense_Mutation_p.D630H|DNAH2_ENST00000082259.3_Missense_Mutation_p.D712H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	630	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D630H(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGCATGCTGGATGTCAACTT	0.512000													8	55					0	0	0.047766	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812989	31812989	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr21:31812989T>C	ENST00000334067.3	+	1	393	c.344T>C	c.(343-345)cTg>cCg	p.L115P		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	115						intermediate filament		p.L115P(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TTCCAATCTCTGGACTGTGGG	0.493000													28	88					0	0	0.108266	0	0
POLR2G	5436	broad.mit.edu	37	11	62532822	62532822	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:62532822C>T	ENST00000301788.7	+	5	449	c.344C>T	c.(343-345)tCa>tTa	p.S115L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	115					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	p.S115L(1)		lung(3)	3						TCCATCCCTTCAGAGATGGAG	0.458000													37	198					0	0	0.086207	0	0
IQSEC3	440073	broad.mit.edu	37	12	248332	248332	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:248332C>G	ENST00000538872.1	+	4	1921	c.1803C>G	c.(1801-1803)agC>agG	p.S601R	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S601R|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S298R			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	601	Poly-Ser.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.S601R(1)|p.S298R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCAGCAGCAGCACGTCCACCA	0.687000													3	3					0	0	0.038147	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909099	101909099	+	Silent	SNP	A	A	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:101909099A>C	ENST00000537097.1	+	6	1071	c.258A>C	c.(256-258)tcA>tcC	p.S86S	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.S86S|GPRASP1_ENST00000361600.5_Silent_p.S86S|GPRASP1_ENST00000444152.1_Silent_p.S86S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	86						cytoplasm	protein binding	p.S86S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TACCTGTTTCACGATTTAAGG	0.493000													13	200					0	0	0.105934	0	0
DNAH2	146754	broad.mit.edu	37	17	7636522	7636522	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:7636522C>T	ENST00000572933.1	+	5	1977	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	DNAH2_ENST00000570791.1_Missense_Mutation_p.R173W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R173W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R173W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	173	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R173W(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGCCCTGCTTCGGCTGCTCGG	0.547000													28	106					0	0	0.050027	0	0
NLRP10	338322	broad.mit.edu	37	11	7982783	7982783	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:7982783G>C	ENST00000328600.2	-	2	537	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	126							ATP binding	p.L126V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGGCCACCAGGAGCACCTGG	0.552000													13	96					0	0	0.024245	0	0
TULP4	56995	broad.mit.edu	37	6	158924616	158924616	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:158924616G>A	ENST00000367097.3	+	13	5278	c.3921G>A	c.(3919-3921)gtG>gtA	p.V1307V	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1307					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.V1307V(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCACAGAGGTGATGGTAGAGA	0.592000													14	99					0	0	0.024245	0	0
PRKAA1	5562	broad.mit.edu	37	5	40764982	40764982	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:40764982G>C	ENST00000397128.2	-	7	1188	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	PRKAA1_ENST00000354209.3_Missense_Mutation_p.P409A	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	394					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	p.P409A(1)		breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GATTTCTGTGGATTTAATTCA	0.418000													8	51					0	0	0.038147	0	0
CDH10	1008	broad.mit.edu	37	5	24537720	24537720	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:24537720C>A	ENST00000264463.4	-	3	802	c.295G>T	c.(295-297)Ggt>Tgt	p.G99C		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	99	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G99C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAAAGAGTACCAGCTCCATCT	0.373000										HNSCC(23;0.051)			9	36					6.40141e-05	6.73443e-05	0.080935	1	0
CARM1	10498	broad.mit.edu	37	19	11022908	11022908	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:11022908G>C	ENST00000327064.4	+	5	797	c.607G>C	c.(607-609)Gcc>Ccc	p.A203P	CARM1_ENST00000344150.4_Missense_Mutation_p.A203P	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	203					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A203P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTTTTTTGCCGCCCAAGCTGG	0.627000													169	232					0	0	0.048971	0	0
TTI1	9675	broad.mit.edu	37	20	36641892	36641892	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:36641892G>A	ENST00000373448.2	-	3	565	c.327C>T	c.(325-327)tcC>tcT	p.S109S	TTI1_ENST00000373447.3_Silent_p.S109S|TTI1_ENST00000449821.1_Silent_p.S109S|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	109							binding	p.S109S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGGTTTTTGGGAGCTGGGTG	0.453000													53	108					0	0	0.048971	0	0
FCRL5	83416	broad.mit.edu	37	1	157509129	157509129	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:157509129G>T	ENST00000361835.3	-	7	1306	c.1149C>A	c.(1147-1149)aaC>aaA	p.N383K	FCRL5_ENST00000356953.4_Missense_Mutation_p.N383K|FCRL5_ENST00000368190.3_Missense_Mutation_p.N383K|FCRL5_ENST00000368189.3_Missense_Mutation_p.N383K|FCRL5_ENST00000368191.3_Missense_Mutation_p.N298K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	383	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.N383K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGAGCTGAGGTTGAGGACAG	0.448000													13	76					5.50884e-06	5.86321e-06	0.093190	1	0
RNLS	55328	broad.mit.edu	37	10	90332672	90332672	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:90332672C>A	ENST00000371947.3	-	4	1853	c.514G>T	c.(514-516)Gac>Tac	p.D172Y	RNLS_ENST00000466945.1_Intron|RNLS_ENST00000437752.1_Missense_Mutation_p.D89Y|RNLS_ENST00000331772.4_Missense_Mutation_p.D172Y	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	172						extracellular region	oxidoreductase activity	p.D172Y(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GTGGTGATGTCACCTTGAAGC	0.438000													10	61					1.61879e-10	1.81864e-10	0.093190	1	0
CDX4	1046	broad.mit.edu	37	X	72667133	72667133	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:72667133C>A	ENST00000373514.2	+	1	44	c.44C>A	c.(43-45)cCg>cAg	p.P15Q		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P15Q(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGCATGTACCCGGGCACTCTC	0.622000													13	30					1.5842e-08	1.72649e-08	0.105934	1	0
DOCK4	9732	broad.mit.edu	37	7	111634226	111634226	+	Silent	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:111634226T>C	ENST00000428084.1	-	5	551	c.279A>G	c.(277-279)ttA>ttG	p.L93L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.L93L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	93					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.L93L(1)|p.L81L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCCAGTCTCTTAATGTTGATG	0.313000													15	56					0	0	0.028581	0	0
TMCO4	255104	broad.mit.edu	37	1	20073736	20073736	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:20073736C>T	ENST00000294543.6	-	8	774	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	TMCO4_ENST00000375127.1_Missense_Mutation_p.R178Q|TMCO4_ENST00000375122.2_Missense_Mutation_p.R178Q	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	178						integral to membrane		p.R178Q(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TTTCTTCTTTCGGGATGCCTC	0.562000													30	351					0	0	0.054565	0	0
TESK1	7016	broad.mit.edu	37	9	35607349	35607349	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:35607349G>C	ENST00000336395.5	+	5	813	c.563G>C	c.(562-564)cGa>cCa	p.R188P	TESK1_ENST00000498522.1_Intron	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	188	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R188P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGGAAGATCGAGGCTTCACC	0.537000													9	162					0	0	0.047766	0	0
ABCA8	10351	broad.mit.edu	37	17	66883575	66883575	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:66883575C>T	ENST00000269080.2	-	23	3234	c.3097G>A	c.(3097-3099)Gat>Aat	p.D1033N	ABCA8_ENST00000586539.1_Missense_Mutation_p.D1073N|ABCA8_ENST00000430352.2_Missense_Mutation_p.D1073N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1033						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D1033N(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGGAAACATCCACCAGCGCC	0.413000													11	231					0	0	0.069234	0	0
IFT122	55764	broad.mit.edu	37	3	129183488	129183488	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:129183488G>T	ENST00000296266.3	+	8	772	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000348417.2_Missense_Mutation_p.D143Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D143Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D91Y|IFT122_ENST00000507564.1_Missense_Mutation_p.D194Y|IFT122_ENST00000504021.1_Missense_Mutation_p.D96Y	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	143					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.D194Y(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTGGACAAATGATGGTCAGTA	0.502000													12	214					1.61879e-10	1.81864e-10	0.093190	1	0
SNRNP200	23020	broad.mit.edu	37	2	96949642	96949642	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:96949642T>C	ENST00000323853.5	-	32	4570	c.4493A>G	c.(4492-4494)aAg>aGg	p.K1498R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1498	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.K1498R(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCCACATCCTTGGCATTGGA	0.587000													7	12					0	0	0.038147	0	0
RGS8	85397	broad.mit.edu	37	1	182640801	182640801	+	Missense_Mutation	SNP	C	C	A	rs141271906	by1000genomes	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:182640801C>A	ENST00000258302.4	-	2	160	c.71G>T	c.(70-72)gGc>gTc	p.G24V	RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_5'UTR|RGS8_ENST00000367556.1_5'UTR|RGS8_ENST00000483095.2_5'UTR	NM_033345.2	NP_203131.1	P57771	RGS8_HUMAN	regulator of G-protein signaling 8	0					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.G24V(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CTGTCTTTGGCCAGTCCTCAT	0.453000													4	154					0.000602214	0.000624519	0.014758	1	0
OR2AG2	338755	broad.mit.edu	37	11	6789999	6789999	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:6789999C>A	ENST00000338569.2	-	1	287	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G64W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGAGCTGCCCAAGCAGGAGG	0.532000													35	138					3.09479e-21	3.78021e-21	0.092188	1	0
MUC5B	727897	broad.mit.edu	37	11	1273700	1273700	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:1273700G>A	ENST00000447027.1	+	32	15058	c.15000G>A	c.(14998-15000)ccG>ccA	p.P5000P	MUC5B_ENST00000529681.1_Silent_p.P4997P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4997					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P4997P(1)|p.P4952P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCCGCCCCGCTGTCCTCGC	0.687000													6	18					0	0	0.020292	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138528	126138528	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:126138528C>T	ENST00000299308.3	+	9	2517	c.2509C>T	c.(2509-2511)Cct>Tct	p.P837S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P349S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	837						integral to membrane		p.P837S(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)		CCGTGGCACACCTGTTGGCCA	0.493000													4	81					0	0	0.009096	0	0
KIAA0895	23366	broad.mit.edu	37	7	36366473	36366473	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:36366473T>C	ENST00000317020.6	-	6	1606	c.1306A>G	c.(1306-1308)Agg>Ggg	p.R436G	KIAA0895_ENST00000297063.6_Missense_Mutation_p.R487G|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R384G|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R474G|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R242G|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R484G	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	487								p.R487G(1)|p.R474G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGAGGGACCCTCATGTTTTCG	0.383000													4	163					0	0	0.009096	0	0
NAA15	80155	broad.mit.edu	37	4	140270690	140270690	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:140270690G>A	ENST00000296543.5	+	7	1089	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.E256K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	256					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.E256K(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAGAAATCCTGAAAACTGGGC	0.323000													7	30					0	0	0.069234	0	0
CNDP1	84735	broad.mit.edu	37	18	72238504	72238504	+	Splice_Site	SNP	C	C	T	rs148458615	byFrequency	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:72238504C>T	ENST00000582365.1	+	6	777	c.712_splice	c.e6+1	p.L237_splice	CNDP1_ENST00000358821.3_Splice_Site_p.L280_splice			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	280				P -> L (in Ref. 1; CAD10388).	proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.L280L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TTGCTCTTCTCGGTAATGCCT	0.423000													11	111					0	0	0.093190	0	0
CDH9	1007	broad.mit.edu	37	5	26906156	26906156	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:26906156C>A	ENST00000231021.4	-	5	895	c.723G>T	c.(721-723)atG>atT	p.M241I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	241	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M241I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTGGCCACCCATGTCTTTGG	0.448000													34	104					1.07637e-12	1.23987e-12	0.074837	1	0
PJA1	64219	broad.mit.edu	37	X	68382049	68382049	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:68382049T>G	ENST00000361478.1	-	2	1410	c.1033A>C	c.(1033-1035)Atg>Ctg	p.M345L	PJA1_ENST00000374571.4_Missense_Mutation_p.M290L|PJA1_ENST00000374583.1_Missense_Mutation_p.M345L|PJA1_ENST00000374584.3_Missense_Mutation_p.M157L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	345							zinc ion binding	p.M345L(1)|p.M157L(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGGTCGGCCATGGTGCGTCGT	0.527000													20	32					0	0	0.062417	0	0
NPAP1	23742	broad.mit.edu	37	15	24922224	24922224	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:24922224C>A	ENST00000329468.2	+	1	1684	c.1210C>A	c.(1210-1212)Cct>Act	p.P404T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P404T(1)									TTTCTCCCAACCTGTGCAGAC	0.537000													15	48					1.49906e-05	1.58621e-05	0.020292	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67314355	67314355	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:67314355G>A	ENST00000360461.5	+	1	2943	c.408G>A	c.(406-408)gcG>gcA	p.A136A	PLEKHG4_ENST00000427155.2_Silent_p.A136A|PLEKHG4_ENST00000450733.1_Intron|PLEKHG4_ENST00000379344.3_Silent_p.A136A	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	136					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A136A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAAGCAGGGCGATGCCATCTG	0.592000													9	171					0	0	0.058154	0	0
OR2J3	442186	broad.mit.edu	37	6	29080183	29080183	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:29080183T>A	ENST00000377169.1	+	1	516	c.516T>A	c.(514-516)tgT>tgA	p.C172*		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C172*(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TACCTCTGTGTGGACACCGCC	0.493000													14	121					0	0	0.020292	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415206	105415206	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:105415206C>T	ENST00000333244.5	-	7	6701	c.6582G>A	c.(6580-6582)ggG>ggA	p.G2194G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2194						nucleus		p.G2194G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAGGTCCCCCTGCATGG	0.642000													63	103					0	0	0.048971	0	0
FBXL7	23194	broad.mit.edu	37	5	15937008	15937008	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:15937008C>T	ENST00000504595.1	+	4	1670	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	FBXL7_ENST00000329673.7_Missense_Mutation_p.L385F|FBXL7_ENST00000510662.1_Missense_Mutation_p.L350F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	397					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L397F(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGTGGAGTACCTCGCCAAGAA	0.602000													6	29					0	0	0.038147	0	0
ZNF559	84527	broad.mit.edu	37	19	9452759	9452759	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:9452759G>C	ENST00000393883.2	+	6	1280	c.632G>C	c.(631-633)aGa>aCa	p.R211T	ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.R275T|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R131T|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R211T|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000592504.1_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R211T(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GGTGGAGAGAGACCATATACT	0.378000													39	42					0	0	0.039052	0	0
PPP3CB	5532	broad.mit.edu	37	10	75198098	75198098	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:75198098G>A	ENST00000360663.5	-	14	1588	c.1477C>T	c.(1477-1479)Cca>Tca	p.P493S	PPP3CB_ENST00000394828.2_Missense_Mutation_p.P484S|PPP3CB_ENST00000394829.2_Missense_Mutation_p.P494S|PPP3CB_ENST00000544628.1_Missense_Mutation_p.P121S			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	493	Inhibitory domain.							p.P165S(1)|p.P493S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TTCCGAGGTGGCATTCTCTCA	0.463000													4	147					0	0	0.009096	0	0
CEP192	55125	broad.mit.edu	37	18	13049425	13049425	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:13049425G>A	ENST00000506447.1	+	16	2715	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M	CEP192_ENST00000430049.2_Missense_Mutation_p.V404M|CEP192_ENST00000325971.8_Missense_Mutation_p.V283M	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	474								p.V879M(1)|p.V283M(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTAGTTGATGTGAAGACATG	0.348000													29	79					0	0	0.041601	0	0
SNHG14	104472715	broad.mit.edu	37	15	25475890	25475890	+	RNA	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:25475890G>A	ENST00000453082.2	+	0	1485					NR_003343.1																						CCAGTGCACTGAAGCTCCAGC	0.612000													4	74					0	0	0.009096	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298632	125298632	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:125298632C>T	ENST00000538699.1	-	2	1356	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.E426K	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	426										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TTGGGGAACTCTCCCATGCCA	0.612000													7	172					0	0	0.029380	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364614	47364614	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:47364614C>T	ENST00000399249.2	-	14	1363	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M	MYBPC3_ENST00000256993.4_Missense_Mutation_p.V436M|MYBPC3_ENST00000545968.1_Missense_Mutation_p.V437M			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	436	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.V437M(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CCACCCACCACGCACTGGTAG	0.627000													4	14					0	0	0.014758	0	0
RIOK1	83732	broad.mit.edu	37	6	7414615	7414615	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:7414615G>A	ENST00000379834.2	+	16	2095	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	530							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CCCTGACATTGATAAAAAAGT	0.458000													14	75					0	0	0.024245	0	0
WWOX	51741	broad.mit.edu	37	16	78458910	78458910	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:78458910C>G	ENST00000566780.1	+	7	1115	c.749C>G	c.(748-750)tCa>tGa	p.S250*	WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Nonsense_Mutation_p.S250*|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	250	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	p.Q93E(1)|p.S250*(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTGTGCCGCTCAGCTCCTGCC	0.507000													18	221					0	0	0.049695	0	0
AQP1	358	broad.mit.edu	37	7	30963178	30963178	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:30963178C>T	ENST00000311813.4	+	4	799	c.744C>T	c.(742-744)ggC>ggT	p.G248G	AQP1_ENST00000434909.2_Silent_p.G308G|AQP1_ENST00000409611.1_Silent_p.G197G|AQP1_ENST00000509504.1_Silent_p.G425G|AQP1_ENST00000409899.1_Silent_p.G133G|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000441328.2_Silent_p.G165G	NM_198098.2	NP_932766.1			aquaporin 1									p.G248G(1)|p.G165G(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				GGACCAGCGGCCAGGTGGAGG	0.617000													16	49					0	0	0.055883	0	0
KCNQ2	3785	broad.mit.edu	37	20	62073780	62073780	+	Silent	SNP	C	C	T	rs148654588		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:62073780C>T	ENST00000354587.3	-	5	971	c.795G>A	c.(793-795)gcG>gcA	p.A265A	KCNQ2_ENST00000344462.3_Silent_p.A265A|KCNQ2_ENST00000344425.5_Silent_p.A265A|KCNQ2_ENST00000370226.1_Silent_p.A265A|KCNQ2_ENST00000370224.1_Silent_p.A265A|KCNQ2_ENST00000430658.1_Silent_p.A265A|KCNQ2_ENST00000370221.1_Silent_p.A265A|KCNQ2_ENST00000360480.3_Silent_p.A265A|KCNQ2_ENST00000370222.3_Silent_p.A265A|KCNQ2_ENST00000357249.2_Silent_p.A265A|KCNQ2_ENST00000359689.1_Silent_p.A265A|KCNQ2_ENST00000359125.2_Silent_p.A265A			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	265					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A265A(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGAGTGCATCCGCGTAGGTGT	0.577000													8	440					0	0	0.047766	0	0
UBAC1	10422	broad.mit.edu	37	9	138837002	138837002	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:138837002C>T	ENST00000371756.3	-	7	965	c.748G>A	c.(748-750)Gag>Aag	p.E250K	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	250						Golgi apparatus|plasma membrane	protein binding	p.E250K(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GTGGCCCCCTCGGCCTCTGGG	0.627000													4	58					0	0	0.014758	0	0
ZNF544	27300	broad.mit.edu	37	19	58773673	58773673	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:58773673G>C	ENST00000269829.4	+	7	2175	c.1701G>C	c.(1699-1701)caG>caC	p.Q567H	CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.Q567H|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q539H|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q425H|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q539H|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q539H|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q567H(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCATACATCAGAGAATTCATA	0.418000													6	125					0	0	0.029380	0	0
WARS	7453	broad.mit.edu	37	14	100820874	100820874	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:100820874T>G	ENST00000355338.2	-	5	1070	c.452A>C	c.(451-453)gAa>gCa	p.E151A	WARS_ENST00000344102.5_Missense_Mutation_p.E110A|WARS_ENST00000358655.4_Missense_Mutation_p.E110A|WARS_ENST00000392882.2_Missense_Mutation_p.E151A|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000556645.1_Missense_Mutation_p.E110A|WARS_ENST00000557135.1_Missense_Mutation_p.E151A	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	151					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.E151A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCTTATTTTCATAGGCATC	0.393000													20	115					0	0	0.055883	0	0
SMTN	6525	broad.mit.edu	37	22	31486831	31486831	+	Silent	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:31486831G>T	ENST00000333137.7	+	9	1121	c.903G>T	c.(901-903)tcG>tcT	p.S301S	SMTN_ENST00000358743.1_Silent_p.S301S|SMTN_ENST00000347557.2_Silent_p.S301S	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	301					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	p.S301S(2)|p.S293S(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCTCCCTGTCGGTGCTCAGCC	0.627000													25	148					1.88708e-17	2.25953e-17	0.037714	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555306	44555306	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr18:44555306G>T	ENST00000330682.2	-	1	1143	c.908C>A	c.(907-909)cCa>cAa	p.P303Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.P303Q(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGGAGCGCTGGCGCGGAGAG	0.637000													43	1846					2.89027e-11	3.28768e-11	0.069288	1	0
CSMD3	114788	broad.mit.edu	37	8	114290863	114290863	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:114290863C>A	ENST00000297405.5	-	3	716	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D158Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D158Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D118Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	158	CUB 1.					integral to membrane|plasma membrane		p.D158Y(1)|p.D118Y(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						ACTGCAAAATCACTGGTCAAA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	28					0.0581538	0.0591284	0.058154	1	0
ATF6	22926	broad.mit.edu	37	1	161833091	161833091	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:161833091T>G	ENST00000367942.3	+	14	1775	c.1708T>G	c.(1708-1710)Tca>Gca	p.S570A		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	570					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.S570A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TTATGTTGTGTCATTTCGAAG	0.393000													4	98					0	0	0.009096	0	0
WRN	7486	broad.mit.edu	37	8	30924661	30924661	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:30924661C>T	ENST00000298139.5	+	6	866	c.617C>T	c.(616-618)aCt>aTt	p.T206I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	206	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.T206I(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTCCTCTCACTGAGGACCAG	0.383000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	49					0	0	0.029380	0	0
PSEN1	5663	broad.mit.edu	37	14	73653563	73653563	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:73653563C>T	ENST00000324501.5	+	6	755	c.483C>T	c.(481-483)gtC>gtT	p.V161V	PSEN1_ENST00000261970.3_Silent_p.V161V|PSEN1_ENST00000394164.1_Silent_p.V157V|PSEN1_ENST00000357710.4_Silent_p.V157V|PSEN1_ENST00000344094.3_Silent_p.V161V|PSEN1_ENST00000557511.1_Silent_p.V161V|PSEN1_ENST00000406768.1_Silent_p.V69V	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	161					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	p.V161V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTTTCTAGGTCATCCATGCCT	0.333000													6	308					0	0	0.047766	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933318	43933318	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:43933318C>G	ENST00000262726.7	-	29	4240	c.3987G>C	c.(3985-3987)ctG>ctC	p.L1329L	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.L1177L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1329	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.L1329L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGCATTCTTTCAGGAGCTGGC	0.567000													10	187					0	0	0.058154	0	0
HERC6	55008	broad.mit.edu	37	4	89334306	89334306	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:89334306C>T	ENST00000380265.5	+	12	1629	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	HERC6_ENST00000264346.7_Silent_p.F482F	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	482					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.F482F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TATCAGTTTTCCTCCTGCTCC	0.443000													30	226					0	0	0.050027	0	0
TTC17	55761	broad.mit.edu	37	11	43411267	43411267	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:43411267G>C	ENST00000039989.4	+	3	329	c.315G>C	c.(313-315)caG>caC	p.Q105H	TTC17_ENST00000299240.6_Missense_Mutation_p.Q105H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	105							binding	p.Q105H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GACTGGAACAGAGACATAATA	0.403000													7	122					0	0	0.038147	0	0
IL6R	3570	broad.mit.edu	37	1	154422396	154422396	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:154422396A>T	ENST00000368485.3	+	8	1443	c.1006A>T	c.(1006-1008)Act>Tct	p.T336S	IL6R_ENST00000344086.4_Missense_Mutation_p.T336S|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	336					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.T336S(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCACTTACTACTAATAAAGA	0.458000													30	196					0	0	0.037714	0	0
IGHG3	3502	broad.mit.edu	37	14	106236312	106236312	+	RNA	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:106236312G>A	ENST00000390551.2	-	0	491																											GGTCCTCCCAGGAGTTCAGGT	0.597000													28	54					0	0	0.034045	0	0
C2orf54	79919	broad.mit.edu	37	2	241826542	241826542	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:241826542G>A	ENST00000307486.8	-	5	940	c.842C>T	c.(841-843)tCt>tTt	p.S281F	C2orf54_ENST00000402775.2_Missense_Mutation_p.S262F|C2orf54_ENST00000388934.4_Missense_Mutation_p.S430F			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	430								p.S430F(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTGCATGGCAGAGATCCGGTC	0.582000													31	99					0	0	0.045705	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508499	106508499	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:106508499G>A	ENST00000359195.3	+	2	803	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V165I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V165I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	165					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V165I(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTCACTGACGTCAGCAACGT	0.677000													6	26					0	0	0.029380	0	0
PPFIA1	8500	broad.mit.edu	37	11	70184483	70184483	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:70184483C>G	ENST00000253925.7	+	13	1710	c.1495C>G	c.(1495-1497)Cag>Gag	p.Q499E	PPFIA1_ENST00000389547.3_Missense_Mutation_p.Q499E|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	499					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.Q499E(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCTGTAGGATCAGCTTGTCCT	0.408000													5	173					0	0	0.014758	0	0
ABCC4	10257	broad.mit.edu	37	13	95724037	95724037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr13:95724037C>A	ENST00000376887.4	-	25	3203	c.3089G>T	c.(3088-3090)cGc>cTc	p.R1030L	ABCC4_ENST00000474158.1_5'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R983L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1030					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.R1030L(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGGTGGTGGGCGTTTCTGATA	0.463000													36	109					2.40579e-17	2.87117e-17	0.086207	1	0
MAP2	4133	broad.mit.edu	37	2	210557842	210557842	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:210557842C>T	ENST00000360351.4	+	7	1454	c.948C>T	c.(946-948)ccC>ccT	p.P316P	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.P312P|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	316					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.P316P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGCCAAGTCCCTTTCAAGGGG	0.448000													43	83					0	0	0.042209	0	0
SCML4	256380	broad.mit.edu	37	6	108041921	108041921	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:108041921T>A	ENST00000369022.2	-	5	994	c.785A>T	c.(784-786)gAa>gTa	p.E262V	SCML4_ENST00000369021.3_Missense_Mutation_p.E291V|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369025.2_Missense_Mutation_p.E78V|SCML4_ENST00000369020.3_Missense_Mutation_p.E320V			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E320V(1)|p.E291V(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCTGTTTCCTTCAAGAGAGGT	0.597000													40	189					0	0	0.111260	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													3	28					0	0	0.021553	0	0
AHI1	54806	broad.mit.edu	37	6	135763829	135763829	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:135763829G>C	ENST00000367800.4	-	12	2019	c.1803C>G	c.(1801-1803)caC>caG	p.H601Q	AHI1_ENST00000327035.6_Missense_Mutation_p.H601Q|AHI1_ENST00000457866.2_Missense_Mutation_p.H601Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	601						adherens junction|cilium|microtubule basal body		p.H601Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTGAGAAGAGGTGTTTGTTTG	0.373000													4	7					0	0	0.014758	0	0
GNB5	10681	broad.mit.edu	37	15	52418243	52418243	+	Splice_Site	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:52418243T>C	ENST00000261837.7	-	11	978		c.e11-2		CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000358784.7_Splice_Site|GNB5_ENST00000396335.4_Splice_Site|GNB5_ENST00000559348.1_Splice_Site	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5							heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.?(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GAGGCGACACTGGGGAGCAAA	0.478000													2	5					0	0	0.004672	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589829	140589829	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:140589829C>T	ENST00000239450.2	+	1	1539	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	PCDHB12_ENST00000541609.1_Silent_p.A113A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		450	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A450A(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCCCCCGCCTTCACCCAAA	0.602000													64	61					0	0	0.048971	0	0
COLQ	8292	broad.mit.edu	37	3	15515524	15515524	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:15515524C>T	ENST00000383785.2	-	10	744	c.619G>A	c.(619-621)Gga>Aga	p.G207R	COLQ_ENST00000435459.2_Intron|COLQ_ENST00000383781.4_Missense_Mutation_p.G197R|COLQ_ENST00000383786.5_Missense_Mutation_p.G173R|COLQ_ENST00000383788.5_Missense_Mutation_p.G207R|COLQ_ENST00000383787.2_Missense_Mutation_p.G198R|COLQ_ENST00000603808.1_Missense_Mutation_p.G207R			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	207	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		p.G207R(1)|p.G197R(1)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCCAACATTCCAGGAAATCCT	0.413000													3	46					0	0	0.004672	0	0
CCDC108	255101	broad.mit.edu	37	2	219896286	219896286	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:219896286C>T	ENST00000341552.5	-	7	823	c.740G>A	c.(739-741)cGc>cAc	p.R247H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R247H|CCDC108_ENST00000453220.1_Missense_Mutation_p.R247H|CCDC108_ENST00000410037.1_Missense_Mutation_p.R182H|CCDC108_ENST00000409865.3_Missense_Mutation_p.R236H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	247						integral to membrane	structural molecule activity	p.R247H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATGGTGGGCGGCAGATCAG	0.607000													50	198					0	0	0.048971	0	0
ARL14EP	120534	broad.mit.edu	37	11	30352809	30352809	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:30352809T>C	ENST00000282032.3	+	2	529	c.314T>C	c.(313-315)tTt>tCt	p.F105S		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein									p.F105S(1)									AGTGCTAAATTTGGAAGACAG	0.378000													10	86					0	0	0.093190	0	0
EIF4G2	1982	broad.mit.edu	37	11	10821641	10821641	+	Silent	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:10821641G>C	ENST00000526148.1	-	18	2625	c.2115C>G	c.(2113-2115)ctC>ctG	p.L705L	EIF4G2_ENST00000396525.2_Silent_p.L667L|EIF4G2_ENST00000339995.5_Silent_p.L705L|EIF4G2_ENST00000525681.1_Silent_p.L705L|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	705					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.L705L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCTTACCTGGGAGCATTTTCT	0.353000													4	108					0	0	0.009096	0	0
RYR2	6262	broad.mit.edu	37	1	237774276	237774276	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:237774276C>A	ENST00000366574.2	+	36	5215	c.4898C>A	c.(4897-4899)cCt>cAt	p.P1633H	RYR2_ENST00000360064.6_Missense_Mutation_p.P1631H|RYR2_ENST00000542537.1_Missense_Mutation_p.P1617H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1633	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P1631H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTCATATCCCTGAGGAAAAC	0.542000													20	30					7.41877e-09	8.10941e-09	0.062417	1	0
SHQ1	55164	broad.mit.edu	37	3	72866403	72866403	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:72866403C>T	ENST00000325599.8	-	7	999	c.860G>A	c.(859-861)cGt>cAt	p.R287H	SHQ1_ENST00000463369.1_Missense_Mutation_p.R259H	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	287					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.R287H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TTCAGTGACACGGGTTTCATA	0.408000													19	63					0	0	0.055883	0	0
ADAP2	55803	broad.mit.edu	37	17	29283319	29283319	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:29283319G>A	ENST00000330889.3	+	10	1278	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	ADAP2_ENST00000580525.1_Missense_Mutation_p.E321K|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	315	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.E315K(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGAAGCCTACGAAGACCTGCC	0.557000													4	100					0	0	0.021553	0	0
KIF1B	23095	broad.mit.edu	37	1	10436630	10436630	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:10436630C>G	ENST00000377086.1	+	49	5638	c.5436C>G	c.(5434-5436)agC>agG	p.S1812R	KIF1B_ENST00000263934.6_Missense_Mutation_p.S1766R|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	1812					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.S1766R(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATGCCCGAGCCAGTCGAAAT	0.517000													86	80					0	0	0.048971	0	0
ART5	116969	broad.mit.edu	37	11	3661475	3661475	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:3661475C>T	ENST00000397068.3	-	2	576	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	ART5_ENST00000359918.4_Missense_Mutation_p.A62T|ART5_ENST00000397067.3_Missense_Mutation_p.A62T	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	62						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	p.A62T(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGCAGGGCATGGTGGGCC	0.607000													18	42					0	0	0.062417	0	0
ATP5L	10632	broad.mit.edu	37	11	118279753	118279753	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:118279753G>T	ENST00000300688.3	+	3	764	c.252G>T	c.(250-252)ttG>ttT	p.L84F	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Intron	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	84					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding	p.L84F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		CTGAGGTGTTGATGTGGTTTT	0.323000													18	26					2.21704e-12	2.54574e-12	0.076483	1	0
OR5M9	390162	broad.mit.edu	37	11	56230488	56230488	+	Silent	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:56230488A>G	ENST00000279791.1	-	1	389	c.390T>C	c.(388-390)taT>taC	p.Y130Y		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y130Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTTACTGCCATAAAGCAGAG	0.483000													34	42					0	0	0.080422	0	0
SEC61G	23480	broad.mit.edu	37	7	54823477	54823477	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:54823477G>A	ENST00000415949.1	-	4	558	c.192C>T	c.(190-192)atC>atT	p.I64I	SEC61G_ENST00000352861.4_Silent_p.I64I|SEC61G_ENST00000395535.3_Silent_p.I64I|SEC61G_ENST00000450622.1_Silent_p.I64I			P60059	SC61G_HUMAN	Sec61 gamma subunit	64					protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.I64I(1)		kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			CTTACACAATGATGTTATTAA	0.333000													13	82					0	0	0.093190	0	0
MYH7	4625	broad.mit.edu	37	14	23900998	23900998	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:23900998C>T	ENST00000355349.3	-	7	773	c.611G>A	c.(610-612)cGc>cAc	p.R204H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	204	Myosin head-like.		R -> H (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R204H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTCTTGCTGCGGTCCCCAAT	0.572000													34	133					0	0	0.048971	0	0
TSKU	25987	broad.mit.edu	37	11	76507537	76507537	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:76507537C>G	ENST00000527881.1	+	2	1903	c.877C>G	c.(877-879)Ccc>Gcc	p.P293A	TSKU_ENST00000333090.4_Missense_Mutation_p.P293A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	293						extracellular region		p.P293A(1)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CAACCTGGTGCCCCTGCCTGA	0.682000													19	23					0	0	0.091800	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840725	36840725	+	RNA	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:36840725C>T	ENST00000557188.1	+	0	356																		p.T36M(1)									TCCTCCGAGACGTTGATAAAG	0.488000													5	31					0	0	0.021553	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642401	129642401	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:129642401G>C	ENST00000319119.4	+	2	808	c.723G>C	c.(721-723)aaG>aaC	p.K241N	ZBTB34_ENST00000373452.2_Missense_Mutation_p.K237N	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K241N(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TGAAAGTGAAGATGGAGAAGT	0.547000													10	127					0	0	0.069234	0	0
DNAH2	146754	broad.mit.edu	37	17	7644211	7644211	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:7644211G>A	ENST00000572933.1	+	11	3050	c.1590G>A	c.(1588-1590)cgG>cgA	p.R530R	DNAH2_ENST00000570791.1_Silent_p.R612R|DNAH2_ENST00000389173.2_Silent_p.R530R|DNAH2_ENST00000082259.3_Silent_p.R612R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	530	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R530R(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCGTGAACGGAACAAGAAAT	0.567000													17	107					0	0	0.055883	0	0
CCDC136	64753	broad.mit.edu	37	7	128457828	128457828	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:128457828A>G	ENST00000297788.4	+	17	3747	c.3380A>G	c.(3379-3381)aAt>aGt	p.N1127S	CCDC136_ENST00000487361.1_Missense_Mutation_p.N488S|CCDC136_ENST00000378685.4_Missense_Mutation_p.N407S|CCDC136_ENST00000464832.1_Missense_Mutation_p.N419S|CCDC136_ENST00000471729.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding	p.N1243S(1)|p.N1127S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCTACCCCCAATCCCCCCATC	0.517000													62	273					0	0	0.048971	0	0
ISX	91464	broad.mit.edu	37	22	35463277	35463277	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr22:35463277G>T	ENST00000308700.6	+	1	1149	c.197G>T	c.(196-198)gGg>gTg	p.G66V	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Missense_Mutation_p.G66V	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G66V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TCAGGCTCTGGGCTAGAAAAG	0.567000													4	8					0.00198382	0.00204564	0.029380	1	0
MUC5B	727897	broad.mit.edu	37	11	1265896	1265896	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:1265896C>T	ENST00000447027.1	+	31	7853	c.7795C>T	c.(7795-7797)Ccc>Tcc	p.P2599S	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2596S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2596	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2596S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTGGCCACCCCCTCCTCCAC	0.652000													9	73					0	0	0.020292	0	0
RIC3	79608	broad.mit.edu	37	11	8159825	8159825	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:8159825T>C	ENST00000343202.4	-	3	486	c.421A>G	c.(421-423)Aaa>Gaa	p.K141E	RIC3_ENST00000425599.2_Missense_Mutation_p.K141E|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.K92E|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000309737.6_Missense_Mutation_p.K141E	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	141						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.K141E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTACTAATTTTCCTGTGGGTG	0.423000													74	241					0	0	0.048971	0	0
WDFY3	23001	broad.mit.edu	37	4	85716110	85716110	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:85716110C>A	ENST00000322366.6	-	20	3597	c.3190G>T	c.(3190-3192)Gcc>Tcc	p.A1064S	WDFY3_ENST00000295888.4_Missense_Mutation_p.A1064S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1064						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.L1063_A1064>FS(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTATGAGGGGCCAAACTGGGC	0.393000													8	19					5.50884e-06	5.86321e-06	0.093190	1	0
PDGFA	5154	broad.mit.edu	37	7	552037	552037	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:552037C>G	ENST00000402802.3	-	3	623	c.216G>C	c.(214-216)aaG>aaC	p.K72N	PDGFA_ENST00000354513.5_Missense_Mutation_p.K72N	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	72					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	p.K72N(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CGGGCACATGCTTAGTGGCAT	0.652000													4	68					0	0	0.014758	0	0
SCLT1	132320	broad.mit.edu	37	4	129925026	129925026	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:129925026T>C	ENST00000281142.5	-	6	799	c.296A>G	c.(295-297)cAc>cGc	p.H99R	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Missense_Mutation_p.H76R|SCLT1_ENST00000434680.1_Missense_Mutation_p.H99R	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	99						centrosome		p.H99R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TAATTCACTGTGCAACCTTTG	0.368000													15	24					0	0	0.069288	0	0
GPR155	151556	broad.mit.edu	37	2	175301048	175301048	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:175301048C>G	ENST00000392552.2	-	16	2647	c.2409G>C	c.(2407-2409)gtG>gtC	p.V803V	GPR155_ENST00000392551.2_Silent_p.V803V|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Silent_p.V803V	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	803	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane		p.V803V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTCCGTATATCACAGCTTCAC	0.483000													8	217					0	0	0.047766	0	0
RAD17	5884	broad.mit.edu	37	5	68670478	68670478	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:68670478G>A	ENST00000509734.1	+	5	1002	c.324G>A	c.(322-324)aaG>aaA	p.K108K	RAD17_ENST00000354312.3_Silent_p.K97K|RAD17_ENST00000361732.2_Silent_p.K97K|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000345306.6_Silent_p.K97K|RAD17_ENST00000354868.5_Silent_p.K97K|RAD17_ENST00000282891.6_Silent_p.K11K|RAD17_ENST00000305138.4_Silent_p.K97K|RAD17_ENST00000380774.3_Silent_p.K108K|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000504177.1_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	108					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	p.K97K(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGCATAAAAAGAAAATTGAAG	0.284000								Other conserved DNA damage response genes					5	28					0	0	0.021553	0	0
GPI	2821	broad.mit.edu	37	19	34868425	34868425	+	Silent	SNP	C	C	T	rs11548997		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:34868425C>T	ENST00000356487.5	+	5	661	c.420C>T	c.(418-420)gaC>gaT	p.D140D	GPI_ENST00000586425.1_Silent_p.D140D|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	140					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	p.D140D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGAGCGGTGACTGGAAGGGGT	0.587000													32	114					0	0	0.098360	0	0
SNRNP40	9410	broad.mit.edu	37	1	31769485	31769485	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:31769485C>A	ENST00000263694.4	-	1	132	c.114G>T	c.(112-114)caG>caT	p.Q38H	SNRNP40_ENST00000446633.2_Missense_Mutation_p.Q38H	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	38						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	p.Q38H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CCGGCGTCGCCTGCTGCTGCC	0.642000													45	68					4.01344e-20	4.86964e-20	0.048971	1	0
LRRTM3	347731	broad.mit.edu	37	10	68686790	68686790	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:68686790G>A	ENST00000361320.4	+	2	694	c.116G>A	c.(115-117)aGg>aAg	p.R39K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	39	LRRNT.					integral to membrane		p.R39K(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AAGGGCTGTAGGTGTGAAGGC	0.463000													9	84					0	0	0.058154	0	0
SHC3	53358	broad.mit.edu	37	9	91660680	91660680	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:91660680C>A	ENST00000375835.4	-	9	1488	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	394	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	p.Q394H(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AAGGTGTTTGCTGCCAGTCTT	0.423000													15	79					2.32078e-09	2.5599e-09	0.024245	1	0
IGHV3-38	28429	broad.mit.edu	37	14	106866502	106866502	+	RNA	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:106866502T>A	ENST00000390618.2	-	0	329																											AGATGGTGAATCTGCCCTTCC	0.522000													16	316					0	0	0.024245	0	0
KRT26	353288	broad.mit.edu	37	17	38926018	38926018	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:38926018G>A	ENST00000335552.4	-	5	1005	c.957C>T	c.(955-957)tcC>tcT	p.S319S		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	319	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.S319S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CAGCCATGAGGGACTGAAGTT	0.398000													7	124					0	0	0.047766	0	0
LOXL4	84171	broad.mit.edu	37	10	100021845	100021845	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:100021845G>A	ENST00000260702.3	-	3	553	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	135						extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	p.R135W(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CGATGGCGCCGGGGGTGGCAT	0.602000													4	31					0	0	0.014758	0	0
GCC2	9648	broad.mit.edu	37	2	109116083	109116083	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:109116083G>C	ENST00000309863.6	+	22	5571	c.4857G>C	c.(4855-4857)ttG>ttC	p.L1619F		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1619	GRIP.|Mediates interaction with RAB9A.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.L1619F(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGGAATACTTGAAGAACGTCT	0.393000													4	305					0	0	0.014758	0	0
NELL2	4753	broad.mit.edu	37	12	45169914	45169914	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:45169914C>T	ENST00000429094.2	-	8	1286	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	NELL2_ENST00000551601.1_Missense_Mutation_p.R260Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R311Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R260Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R284Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R261Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R260Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	261					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.R261Q(1)|p.R311Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCTATTCATTCGCTGTTCAGC	0.453000													5	86					0	0	0.021553	0	0
C16orf91	283951	broad.mit.edu	37	16	1470042	1470042	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:1470042C>G	ENST00000310355.1	-	5	972	c.973G>C	c.(973-975)Gat>Cat	p.D325H	C16orf91_ENST00000563974.1_3'UTR|C16orf91_ENST00000442039.2_3'UTR			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane		p.D325H(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTTGGACATCAAGAGCCAGG	0.502000													11	98					0	0	0.093190	0	0
AK7	122481	broad.mit.edu	37	14	96949491	96949491	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:96949491G>A	ENST00000267584.4	+	16	1953	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	637	Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.E637K(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGCTGCTGAGGAAGCAGAACG	0.567000													5	22					0	0	0.014758	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	A	rs121913358		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:140481402C>A	ENST00000288602.6	-	11	1466	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				56	108					2.32099e-22	2.84458e-22	0.048971	1	0
NAV3	89795	broad.mit.edu	37	12	78562616	78562616	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:78562616G>T	ENST00000397909.2	+	24	5124	c.4951G>T	c.(4951-4953)Gca>Tca	p.A1651S	NAV3_ENST00000266692.7_Missense_Mutation_p.A1474S|NAV3_ENST00000536525.2_Missense_Mutation_p.A1651S|NAV3_ENST00000228327.6_Missense_Mutation_p.A1651S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1651						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A1651S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATTCAGGGAGCACTGAATGG	0.373000										HNSCC(70;0.22)			10	16					6.42651e-13	7.42619e-13	0.080935	1	0
LPHN2	23266	broad.mit.edu	37	1	82432241	82432241	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:82432241C>T	ENST00000370728.1	+	15	2930	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.S749F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S762F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S749F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S762F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S749F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S749F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S749F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S762F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S749F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S762F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S687F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S762F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S762F			O95490	LPHN2_HUMAN	latrophilin 2	762					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S749F(1)|p.S762F(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)		AATAAAGAGTCCAGCCGAGTA	0.383000													6	250					0	0	0.021553	0	0
ACPL2	92370	broad.mit.edu	37	3	141006210	141006210	+	Silent	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:141006210C>T	ENST00000508812.1	+	4	2300	c.393C>T	c.(391-393)tcC>tcT	p.S131S	ACPL2_ENST00000504264.1_Silent_p.S123S|ACPL2_ENST00000393007.1_Silent_p.S124S|ACPL2_ENST00000393010.2_Silent_p.S140S|ACPL2_ENST00000286353.4_Silent_p.S140S|ACPL2_ENST00000502783.1_Silent_p.S102S|RP11-438D8.2_ENST00000507698.1_RNA			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	140						extracellular region	acid phosphatase activity	p.S140S(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAAAAGGATCCGGAGCCTCTT	0.483000													85	225					0	0	0.048971	0	0
PTPRD	5789	broad.mit.edu	37	9	8465635	8465635	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:8465635T>A	ENST00000381196.4	-	29	4088	c.3545A>T	c.(3544-3546)tAt>tTt	p.Y1182F	PTPRD_ENST00000360074.4_Missense_Mutation_p.Y1169F|PTPRD_ENST00000540109.1_Missense_Mutation_p.Y1182F|PTPRD_ENST00000537002.1_Missense_Mutation_p.Y768F|PTPRD_ENST00000358503.5_Missense_Mutation_p.Y1160F|PTPRD_ENST00000486161.1_Missense_Mutation_p.Y771F|PTPRD_ENST00000356435.5_Missense_Mutation_p.Y1182F|PTPRD_ENST00000355233.5_Missense_Mutation_p.Y771F|PTPRD_ENST00000397606.3_Missense_Mutation_p.Y761F|PTPRD_ENST00000397611.3_Missense_Mutation_p.Y768F|PTPRD_ENST00000397617.3_Missense_Mutation_p.Y761F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1182		Cleavage (Probable).			transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Y1182F(2)|p.Y653F(1)|p.Y771F(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCTCTCCCATAACGGATGCT	0.408000										TSP Lung(15;0.13)			12	38					0	0	0.020292	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514864	233514864	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:233514864G>T	ENST00000366624.3	+	9	2373	c.2112G>T	c.(2110-2112)atG>atT	p.M704I	MLK4_ENST00000366622.1_Missense_Mutation_p.M150I	NM_032435.2	NP_115811.2												p.M704I(1)									CCATTGAGATGACTCCTACGA	0.537000													16	76					4.7796e-09	5.24029e-09	0.099896	1	0
HVCN1	84329	broad.mit.edu	37	12	111099152	111099152	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:111099152G>A	ENST00000356742.5	-	3	876	c.123C>T	c.(121-123)aaC>aaT	p.N41N	HVCN1_ENST00000548312.1_Silent_p.N41N|HVCN1_ENST00000439744.2_Silent_p.N21N|HVCN1_ENST00000242607.8_Silent_p.N41N			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	41					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.N41N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATTTCTTGTAGTTGATGTTCC	0.587000													19	61					0	0	0.062417	0	0
GADL1	339896	broad.mit.edu	37	3	30842577	30842577	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:30842577G>T	ENST00000454381.3	-	12	1100	c.1054C>A	c.(1054-1056)Ctt>Att	p.L352I	GADL1_ENST00000282538.5_Missense_Mutation_p.L352I			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	352					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.L168I(1)|p.L352I(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTTTTAAGAAGATCCTTCGAA	0.353000													31	29					8.16721e-17	9.6836e-17	0.045705	1	0
ZNF782	158431	broad.mit.edu	37	9	99581987	99581987	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr9:99581987G>A	ENST00000481138.1	-	6	979	c.318C>T	c.(316-318)ttC>ttT	p.F106F	ZNF782_ENST00000535338.1_5'UTR|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F106F(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATTTATTGGTGAATAAAACTT	0.328000													5	34					0	0	0.014758	0	0
ASH1L	55870	broad.mit.edu	37	1	155448829	155448829	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:155448829G>A	ENST00000368346.3	-	3	4471	c.3832C>T	c.(3832-3834)Cag>Tag	p.Q1278*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1278*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1278					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.Q1278*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCGAAGCTGGGGATATTTC	0.378000													7	321					0	0	0.029380	0	0
ZNF669	79862	broad.mit.edu	37	1	247265290	247265290	+	Splice_Site	SNP	T	T	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:247265290T>C	ENST00000343381.6	-	2	559	c.388_splice	c.e2+1	p.V129_splice	ZNF669_ENST00000366501.1_Intron|ZNF669_ENST00000358785.4_Splice_Site_p.V129_splice|ZNF669_ENST00000366500.1_Splice_Site_p.V43_splice|ZNF669_ENST00000448299.2_Splice_Site_p.V43_splice	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	129	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V129V(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CATTCTTACCTACAGAAGCCA	0.408000													62	65					0	0	0.048971	0	0
TDRD5	163589	broad.mit.edu	37	1	179631407	179631407	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:179631407G>C	ENST00000444136.1	+	15	2741	c.2491G>C	c.(2491-2493)Gaa>Caa	p.E831Q	TDRD5_ENST00000294848.8_Missense_Mutation_p.E777Q|TDRD5_ENST00000367614.1_Missense_Mutation_p.E777Q	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	819					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.E777Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCATGTAAAGAAATGCCACA	0.473000													3	92					0	0	0.004672	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68112721	68112721	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:68112721G>A	ENST00000262215.3	-	38	5684	c.5295C>T	c.(5293-5295)ttC>ttT	p.F1765F	ARFGEF1_ENST00000520381.1_Silent_p.F1219F|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000518230.1_Silent_p.F603F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1765					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.F1765F(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGAGTGAGGAAGTAACTTA	0.378000													5	173					0	0	0.014758	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72036255	72036255	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:72036255C>T	ENST00000378743.3	-	6	1946	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	530					RNA processing	intracellular	metal ion binding	p.E530K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATAGCAACTTCTTCATAGTTA	0.368000													40	113					0	0	0.092188	0	0
ZNF16	7564	broad.mit.edu	37	8	146156370	146156370	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:146156370G>A	ENST00000276816.4	-	4	1989	c.1803C>T	c.(1801-1803)taC>taT	p.Y601Y	ZNF16_ENST00000394909.2_Silent_p.Y601Y	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y601Y(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CAACACAGGTGTAGGGTTTTT	0.498000													34	82					0	0	0.086207	0	0
SPTA1	6708	broad.mit.edu	37	1	158584068	158584068	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:158584068G>A	ENST00000368148.3	-	49	6997	c.6817C>T	c.(6817-6819)Cta>Tta	p.L2273L	SPTA1_ENST00000368147.3_Silent_p.L2270L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2273	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L2273L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATTCCTTTAGAGTCTCTTCA	0.328000													13	72					0	0	0.024245	0	0
FRS3	10817	broad.mit.edu	37	6	41743230	41743230	+	Silent	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:41743230G>T	ENST00000373018.3	-	4	431	c.180C>A	c.(178-180)ctC>ctA	p.L60L	FRS3_ENST00000259748.2_Silent_p.L60L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	60	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	p.L60L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCGCAAGCAGAGATAAGGCC	0.632000													6	38					0.000157383	0.000164148	0.038147	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685831	125685831	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:125685831G>T	ENST00000371126.1	-	1	1003	c.761C>A	c.(760-762)cCc>cAc	p.P254H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	254								p.P254H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GATGGCCCTGGGGATGGCCTC	0.632000													11	36					6.42651e-13	7.42619e-13	0.080935	1	0
KCNK6	9424	broad.mit.edu	37	19	38817502	38817502	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:38817502G>A	ENST00000263372.3	+	2	699	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	198						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.A198T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCTCGAGGAGGCCTGGAGCTT	0.657000													71	357					0	0	0.048971	0	0
WDR90	197335	broad.mit.edu	37	16	708613	708613	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:708613A>G	ENST00000549091.1	+	23	2947	c.2855A>G	c.(2854-2856)aAg>aGg	p.K952R	WDR90_ENST00000293879.4_Missense_Mutation_p.K952R	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	952								p.K952R(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGGACCATCAAGGTGTGGGAC	0.682000													27	40					0	0	0.059317	0	0
TNR	7143	broad.mit.edu	37	1	175360440	175360440	+	Silent	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:175360440C>A	ENST00000367674.1	-	7	2199	c.1491G>T	c.(1489-1491)tcG>tcT	p.S497S	TNR_ENST00000263525.2_Silent_p.S497S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	497	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S497S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGACGCTGGCCGAGGTAGGGG	0.547000													45	76					7.89702e-26	9.77726e-26	0.048971	1	0
TARS2	80222	broad.mit.edu	37	1	150464139	150464139	+	Splice_Site	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:150464139G>A	ENST00000369064.3	+	6	729		c.e6+1		TARS2_ENST00000463555.1_Splice_Site|TARS2_ENST00000606933.1_Splice_Site|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_Splice_Site	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)						threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.?(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGTATATGGGTAAGAGTTGT	0.418000													51	237					0	0	0.048971	0	0
EHD3	30845	broad.mit.edu	37	2	31489172	31489172	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:31489172C>T	ENST00000322054.5	+	6	1495	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	404					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.R404W(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGAGTCACAGCGGCCCATCCA	0.627000													13	58					0	0	0.105934	0	0
COL6A3	1293	broad.mit.edu	37	2	238249550	238249550	+	Missense_Mutation	SNP	G	G	A	rs142851023	byFrequency	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:238249550G>A	ENST00000295550.4	-	38	8461	c.8009C>T	c.(8008-8010)gCg>gTg	p.A2670V	COL6A3_ENST00000353578.4_Missense_Mutation_p.A2464V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2063V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2469V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2464V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2470V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2670	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A2670V(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCAGAGGGCGCGTGCTGCAC	0.567000													34	61					0	0	0.050027	0	0
SNHG14	104472715	broad.mit.edu	37	15	25415905	25415905	+	RNA	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr15:25415905G>A	ENST00000549301.1	+	0	327				SNHG14_ENST00000553149.1_RNA|SNORD115-1_ENST00000364961.1_RNA																							ATCCTGAAGAGAGGTGATGAC	0.542000													33	273					0	0	0.064281	0	0
CCDC174	51244	broad.mit.edu	37	3	14712462	14712462	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr3:14712462G>C	ENST00000383794.3	+	11	1238	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q	CCDC174_ENST00000476763.1_3'UTR|CCDC174_ENST00000303688.7_Missense_Mutation_p.E313Q	NM_016474.4	NP_057558.3			coiled-coil domain containing 174									p.E389Q(1)									GAGAGATCCTGAGTTTGCCCC	0.488000													10	49					0	0	0.069234	0	0
KIAA1429	25962	broad.mit.edu	37	8	95521993	95521993	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:95521993G>A	ENST00000297591.5	-	15	3877	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W	KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1268W|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1268					mRNA processing|RNA splicing	nucleus		p.R1268W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CCAGGAGACCGCACCAAAGCT	0.353000													5	97					0	0	0.014758	0	0
SART1	9092	broad.mit.edu	37	11	65732040	65732040	+	Splice_Site	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:65732040G>C	ENST00000312397.5	+	3	518	c.427_splice	c.e3+1	p.K142_splice	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	142					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		p.K142N(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCATCAAGAAGGGTGAGTATG	0.507000													23	115					0	0	0.069288	0	0
GPC6	10082	broad.mit.edu	37	13	94482698	94482698	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr13:94482698C>A	ENST00000377047.4	+	3	1226	c.611C>A	c.(610-612)cCc>cAc	p.P204H	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	204						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P204H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GGAGACGTGCCCCGGAAACTG	0.512000													9	36					2.17888e-05	2.29887e-05	0.058154	1	0
ZNF514	84874	broad.mit.edu	37	2	95815560	95815560	+	Silent	SNP	G	G	T	rs144989588		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:95815560G>T	ENST00000295208.2	-	5	1132	c.670C>A	c.(670-672)Cga>Aga	p.R224R	ZNF514_ENST00000411425.1_Silent_p.R224R	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R224R(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						GTGTGACATCGCTGATGGCGC	0.433000													4	310					0.014758	0.0150896	0.014758	1	0
SRSF6	6431	broad.mit.edu	37	20	42088436	42088436	+	Silent	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:42088436G>C	ENST00000244020.3	+	3	388	c.282G>C	c.(280-282)cgG>cgC	p.R94R		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	94					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R94R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						ACAGCAGTCGGAGAACATCTG	0.403000													7	237					0	0	0.038147	0	0
TC2N	123036	broad.mit.edu	37	14	92249555	92249555	+	Splice_Site	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:92249555C>T	ENST00000435962.2	-	12	1686		c.e12-1		TC2N_ENST00000360594.5_Splice_Site|TC2N_ENST00000556018.1_Splice_Site|TC2N_ENST00000340892.5_Splice_Site	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear							nucleus		p.?(2)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTATCCAAATCTGTAAAGGAA	0.323000													4	61					0	0	0.009096	0	0
LPHN2	23266	broad.mit.edu	37	1	82409320	82409320	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:82409320T>G	ENST00000370728.1	+	8	1710	c.1065T>G	c.(1063-1065)gaT>gaG	p.D355E	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370725.1_Missense_Mutation_p.D355E|LPHN2_ENST00000319517.6_Missense_Mutation_p.D355E|LPHN2_ENST00000271029.4_Missense_Mutation_p.D355E|LPHN2_ENST00000370715.1_Missense_Mutation_p.D355E|LPHN2_ENST00000359929.3_Missense_Mutation_p.D355E|LPHN2_ENST00000370713.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370730.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370723.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370717.2_Missense_Mutation_p.D355E|LPHN2_ENST00000370721.1_Missense_Mutation_p.D359E|LPHN2_ENST00000335786.5_Missense_Mutation_p.D355E|LPHN2_ENST00000370727.1_Missense_Mutation_p.D355E			O95490	LPHN2_HUMAN	latrophilin 2	355	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.D355E(2)		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)		AATATGTAGATGTTCCCTTCC	0.358000													23	113					0	0	0.083992	0	0
CEP72	55722	broad.mit.edu	37	5	639206	639206	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr5:639206G>A	ENST00000264935.5	+	8	1299	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	403					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		p.P403P(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CATCACAGCCGTCTCCCGGGT	0.652000													14	94					0	0	0.105934	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74570505	74570505	+	Silent	SNP	G	G	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:74570505G>C	ENST00000225276.5	-	3	622	c.303C>G	c.(301-303)ctC>ctG	p.L101L	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	101					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.L101L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGCGGTCCCAGAGCGCTGGGG	0.637000													16	61					0	0	0.033300	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228702	204228702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr1:204228702C>A	ENST00000272203.3	-	8	1007	c.691G>T	c.(691-693)Gag>Tag	p.E231*	PLEKHA6_ENST00000414478.1_Nonsense_Mutation_p.E251*	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	231	Pro-rich.							p.E231L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACCGGAGGCTCTTTCTTGACT	0.652000													22	114					1.36565e-18	1.64058e-18	0.076483	1	0
LENG1	79165	broad.mit.edu	37	19	54663367	54663367	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr19:54663367C>T	ENST00000222224.3	-	1	253	c.67G>A	c.(67-69)Gac>Aac	p.D23N		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	23								p.D23N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGGCCTCGTCACGCCGCACG	0.677000													6	10					0	0	0.029380	0	0
NLRP10	338322	broad.mit.edu	37	11	7982784	7982784	+	Silent	SNP	G	G	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:7982784G>T	ENST00000328600.2	-	2	536	c.375C>A	c.(373-375)ctC>ctA	p.L125L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	125							ATP binding	p.L126V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGCCACCAGGAGCACCTGGT	0.547000													13	96					2.32078e-09	2.5599e-09	0.024245	1	0
ASPRV1	151516	broad.mit.edu	37	2	70188284	70188284	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:70188284G>A	ENST00000320256.4	-	1	1113	c.537C>T	c.(535-537)ccC>ccT	p.P179P		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	179					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	p.P179P(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GCAGGTGGCTGGGGGCAGCCC	0.587000													3	90					0	0	0.021553	0	0
PKD1	5310	broad.mit.edu	37	16	2155892	2155892	+	Silent	SNP	A	A	G	rs149467954	by1000genomes	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2613L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ.		Missing (in ADPKD1; could be a polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657000													3	65					0	0	0.004672	0	0
OR1A1	8383	broad.mit.edu	37	17	3119530	3119530	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:3119530T>G	ENST00000304094.1	+	1	616	c.616T>G	c.(616-618)Ttc>Gtc	p.F206V		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F206V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTTGGCATTTTCTCTGTGCC	0.478000													57	170					0	0	0.048971	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19501350	19501350	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr12:19501350C>G	ENST00000538714.1	+	21	2596	c.2592C>G	c.(2590-2592)ctC>ctG	p.L864L	PLEKHA5_ENST00000429027.2_Silent_p.L972L|PLEKHA5_ENST00000543806.1_Silent_p.L788L|PLEKHA5_ENST00000299275.6_Silent_p.L806L|PLEKHA5_ENST00000355397.3_Silent_p.L864L|PLEKHA5_ENST00000539256.1_Silent_p.L564L|PLEKHA5_ENST00000317589.4_Silent_p.L869L|PLEKHA5_ENST00000424268.1_Silent_p.L795L|PLEKHA5_ENST00000359180.3_Intron	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	806							1-phosphatidylinositol binding|protein binding	p.L967L(1)|p.L806L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATTATAGACTCTACAAGAGTG	0.338000													3	122					0	0	0.004672	0	0
ENGASE	64772	broad.mit.edu	37	17	77073539	77073539	+	Silent	SNP	C	C	G			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:77073539C>G	ENST00000579016.1	+	2	174	c.174C>G	c.(172-174)gtC>gtG	p.V58V	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	58						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.V58V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AAGAGACAGTCTTTCGAGAGG	0.463000													18	78					0	0	0.043863	0	0
TC2N	123036	broad.mit.edu	37	14	92249542	92249542	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:92249542C>T	ENST00000435962.2	-	12	1698	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	TC2N_ENST00000360594.5_Missense_Mutation_p.E459K|TC2N_ENST00000556018.1_Missense_Mutation_p.E395K|TC2N_ENST00000340892.5_Missense_Mutation_p.E459K	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	459						nucleus		p.E395K(1)|p.E459K(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTACTGTCTTCACTTATCCAA	0.328000													5	75					0	0	0.014758	0	0
ITIH2	3698	broad.mit.edu	37	10	7755192	7755192	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:7755192G>A	ENST00000358415.4	+	5	577	c.411G>A	c.(409-411)gtG>gtA	p.V137V	ITIH2_ENST00000379587.4_Silent_p.V126V|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	137	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V137V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGAAAACTGTGGGCCGAGCTC	0.478000													27	80					0	0	0.030593	0	0
PXDN	7837	broad.mit.edu	37	2	1652006	1652006	+	Silent	SNP	T	T	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:1652006T>A	ENST00000252804.4	-	17	3596	c.3546A>T	c.(3544-3546)gcA>gcT	p.A1182A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1182					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.A1182A(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGAACGTGTGTGCCGCCGATA	0.572000													40	142					0	0	0.048971	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917311	25917311	+	Silent	SNP	G	G	A			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr6:25917311G>A	ENST00000377850.3	-	7	1178	c.654C>T	c.(652-654)agC>agT	p.S218S	SLC17A2_ENST00000265425.3_Silent_p.S218S|SLC17A2_ENST00000360488.3_Silent_p.S218S			O00624	NPT3_HUMAN	solute carrier family 17, member 2	218					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.S218S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CACAGCCAGTGCTACCTGGGA	0.463000													8	99					0	0	0.080935	0	0
snoU13	0	broad.mit.edu	37	2	148081572	148081572	+	RNA	DEL	T	T	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr2:148081572delT	ENST00000458959.1	+	0	34																											gatgattgggttttcacaaga	0.353													2	4	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114278661	114278661	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr4:114278661delA	ENST00000357077.4	+	38	8940	c.8887delA	c.(8887-8889)ccfs	p.T2963fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.T2930fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2930					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTATTCTGTTACCATCACATC	0.398													39	251	---	---	---	---					
PHTF2	57157	broad.mit.edu	37	7	77538221	77538221	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr7:77538221delT	ENST00000416283.2	+	6	581	c.455delT	c.(454-456)atfs	p.I152fs	PHTF2_ENST00000422959.2_Frame_Shift_Del_p.I152fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.I186fs|PHTF2_ENST00000450574.1_Frame_Shift_Del_p.I152fs|PHTF2_ENST00000415251.2_Frame_Shift_Del_p.I148fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CATTGCCAGATTGTTTCCACA	0.423													53	70	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48744402	48744402	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr8:48744402delT	ENST00000314191.2	-	61	8291	c.8235delA	c.(8233-8235)aafs	p.K2745fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.K2745fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2746	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAGCAACGCCTTTTCTGGCAT	0.507								Non-homologous end-joining					7	704	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93238018	93238018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr10:93238018delA	ENST00000446394.1	+	6	761	c.661delA	c.(661-663)aafs	p.K221fs	HECTD2_ENST00000298068.5_Frame_Shift_Del_p.K221fs|HECTD2_ENST00000536715.1_5'UTR			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	221					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ACGAGAATGGAAAGGGTAAAC	0.323													14	61	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46799028	46799029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr11:46799028_46799029insT	ENST00000529230.1	-	23	2868_2869	c.2822_2823insA	c.(2821-2823)attfs	p.I941fs	CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.I941fs|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.I941fs|CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.I941fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	941					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGATGCCTAAATTTTTTACATG	0.431													22	53	---	---	---	---					
OR4K15	81127	broad.mit.edu	37	14	20444056	20444057	+	Frame_Shift_Ins	INS	-	-	C			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:20444056_20444057insC	ENST00000305051.5	+	1	454_455	c.379_380insC	c.(379-381)tgtfs	p.C127fs		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGATTTTCTTTGTTCATCTC	0.446													45	167	---	---	---	---					
OR4E2	26686	broad.mit.edu	37	14	22134212	22134213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:22134212_22134213insT	ENST00000408935.1	+	1	916_917	c.916_917insT	c.(916-918)tttfs	p.F306fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCAGAGACAAGTTTTTTTCACG	0.406													8	58	---	---	---	---					
YY1	7528	broad.mit.edu	37	14	100705788	100705790	+	In_Frame_Del	DEL	CCA	CCA	-	rs76675246		TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr14:100705788_100705790delCCA	ENST00000262238.4	+	1	467_469	c.207_209delCCA	c.(205-210)ggc>gg	p.GH69del		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	69	Gly-rich.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gGCACGCCGGccaccaccaccac	0.724													7	9	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34077194	34077197	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr17:34077194_34077197delCCTC	ENST00000254466.6	-	2	553_556	c.526_529delGAGG	c.(526-531)agfs	p.EE176fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.EE176fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	176					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGCACCTCCTCCTCGATCTCCTCC	0.711													57	233	---	---	---	---					
APCDD1L-AS1	149773	broad.mit.edu	37	20	57159887	57159888	+	RNA	INS	-	-	CTTC	rs142796198	by1000genomes	TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chr20:57159887_57159888insCTTC	ENST00000427140.1	+	0	943					NR_034147.1																						ctcccttctttcttccttcctt	0.535													2	4	---	---	---	---					
TBX22	50945	broad.mit.edu	37	X	79283520	79283520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:79283520delC	ENST00000442340.1	+	8	1024	c.534delC	c.(532-534)tafs	p.Y178fs	TBX22_ENST00000373296.3_Frame_Shift_Del_p.Y298fs|TBX22_ENST00000373291.1_Frame_Shift_Del_p.Y178fs|TBX22_ENST00000373294.5_Frame_Shift_Del_p.Y298fs	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	298					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGAGACCTACCCATGGAGGC	0.353													35	63	---	---	---	---					
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-05-4389-01A-01D-1265-08	TCGA-05-4389-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6f382d4-a522-4333-88b5-be7f55fe80f5	1696eddb-18d5-4d86-a7ee-f388add3e3ba	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tct>tc	p.SD61del	ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	61						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517													7	198	---	---	---	---					
