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
GPX1	2876	broad.mit.edu	37	3	49395586	49395586	+	Silent	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr3:49395586G>T	ENST00000419783.1	-	1	447	c.126C>A	c.(124-126)atC>atA	p.I42I	GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Silent_p.I42I	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	42					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CCACATTCTCGATAAGTAGTA	0.711000													2	2					0.0016	0.00168312	1	1	0
CCNE2	9134	broad.mit.edu	37	8	95893865	95893865	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr8:95893865G>A	ENST00000520509.1	-	12	1462	c.1210C>T	c.(1210-1212)Cac>Tac	p.H404Y	INTS8_ENST00000523731.1_3'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.H404Y|CCNE2_ENST00000396133.3_3'UTR			O96020	CCNE2_HUMAN	cyclin E2	404					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTTCTTTAGTGTTTTCCTGGT	0.398000													30	102					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67031860	67031860	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr17:67031860C>T	ENST00000340001.4	-	7	1094	c.883G>A	c.(883-885)Gtc>Atc	p.V295I	ABCA9_ENST00000453985.2_Missense_Mutation_p.V295I|ABCA9_ENST00000370732.2_Missense_Mutation_p.V295I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	295					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTCAGGACGACAATTTGTGCA	0.413000													3	33					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996311	120996311	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:120996311G>T	ENST00000392793.1	+	8	1775	c.1504G>T	c.(1504-1506)Ggc>Tgc	p.G502C	TECTA_ENST00000264037.2_Missense_Mutation_p.G502C			O75443	TECTA_HUMAN	tectorin alpha	502	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			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)		GTGCGACTCCGGCTGCGTCGA	0.617000													34	57					2.81731e-10	3.72069e-10	1	1	0
SDHAP1	255812	broad.mit.edu	37	3	195711016	195711016	+	RNA	SNP	G	G	A	rs79282413	by1000genomes	TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr3:195711016G>A	ENST00000427841.1	-	0	716					NR_003264.2																						TTGAGTGGCCGGTCCGATCAG	0.592000													8	35					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841627	70841627	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr16:70841627G>C	ENST00000393567.2	-	86	15372	c.15222C>G	c.(15220-15222)atC>atG	p.I5074M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5074										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGATGTTGTTGATCTTCTTGG	0.522000													6	64					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1027302	1027302	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:1027302C>A	ENST00000421673.2	-	17	2247	c.2197G>T	c.(2197-2199)Gcc>Tcc	p.A733S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	733					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACTGCTCGGCCAGGATGAAC	0.652000													15	82					1.49906e-05	1.76831e-05	1	1	0
ZAN	7455	broad.mit.edu	37	7	100386861	100386861	+	RNA	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:100386861G>A	ENST00000542585.1	+	0	7394				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAGATGGCCGTCCCCTACAG	0.567000													7	34					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548909	158548909	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:158548909G>T	ENST00000368150.1	-	1	780	c.781C>A	c.(781-783)Ctc>Atc	p.L261I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACCACGGTGAGGTGGGAGGCA	0.468000													54	103					3.50607e-19	4.92471e-19	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139397720	139397720	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr9:139397720T>C	ENST00000277541.6	-	27	5156	c.5081A>G	c.(5080-5082)cAg>cGg	p.Q1694R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1694					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTGGCACTCTGGAAGCACTG	0.642000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	15					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283412	152283412	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:152283412G>T	ENST00000368799.1	-	3	3985	c.3950C>A	c.(3949-3951)gCc>gAc	p.A1317D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1317	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGTGACTGGCTCTGTCTTC	0.537000									Ichthyosis				38	290					9.45814e-24	1.34405e-23	1	1	0
SNAI2	6591	broad.mit.edu	37	8	49832545	49832545	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr8:49832545G>A	ENST00000396822.1	-	3	892	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	SNAI2_ENST00000020945.1_Missense_Mutation_p.R179W			O43623	SNAI2_HUMAN	snail family zinc finger 2	179					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GTGTGGGTCCGAATATGCATC	0.478000													10	89					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677911	3677911	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:3677911G>A	ENST00000294600.2	+	5	862	c.778G>A	c.(778-780)Gag>Aag	p.E260K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	260										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCTGCTCCAGGAGGAGAGGGA	0.597000													6	34					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149514997	149514997	+	RNA	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:149514997C>A	ENST00000378016.2	+	0	11387							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTCGTGTGCACACGGGAAG	0.672000													7	32					8.12818e-05	9.31674e-05	1	1	0
IGKV1-9	28941	broad.mit.edu	37	2	89309693	89309693	+	RNA	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:89309693C>G	ENST00000493819.1	-	0	194																											CTGACTGGCCCGGCAAGTGAT	0.493000													26	172					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79842860	79842860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr12:79842860C>T	ENST00000261205.4	+	11	1882	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	SYT1_ENST00000552744.1_Nonsense_Mutation_p.Q409*|SYT1_ENST00000457153.2_Nonsense_Mutation_p.Q406*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.Q409*|RP1-78O14.1_ENST00000550268.1_lincRNA	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	409					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GCACACCCTGCAGGTAGAGGA	0.542000													9	15					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24484500	24484500	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:24484500T>C	ENST00000355123.4	-	21	2910	c.2467A>G	c.(2467-2469)Aaa>Gaa	p.K823E	ITSN2_ENST00000406921.3_Missense_Mutation_p.K823E|ITSN2_ENST00000361999.3_Missense_Mutation_p.K796E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	823				KAVSPK -> FAAAST (in Ref. 6; AAD00899).	endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATACAGCTTTTTCATTTTCA	0.368000													11	45					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55033449	55033449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:55033449C>T	ENST00000374987.3	+	6	1204	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	380					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AACCAGGCCTCAGCCCAGTCA	0.557000								Other BER factors					4	22					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121487999	121487999	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:121487999G>T	ENST00000296600.4	+	2	697	c.314G>T	c.(313-315)gGg>gTg	p.G105V	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	105						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CGAGAATTTGGGTCCCAGTCA	0.512000													11	60					9.70103e-10	1.26739e-09	1	1	0
FCRLB	127943	broad.mit.edu	37	1	161693218	161693218	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:161693218G>T	ENST00000367948.2	+	5	329	c.114G>T	c.(112-114)gaG>gaT	p.E38D	FCRLB_ENST00000392158.1_Missense_Mutation_p.E38D|FCRLB_ENST00000367944.3_Missense_Mutation_p.E31D|FCRLB_ENST00000367945.1_Missense_Mutation_p.E31D|FCRLB_ENST00000336830.5_Missense_Mutation_p.E38D|FCRLB_ENST00000367946.3_Missense_Mutation_p.E38D			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	38	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TCAAAGGGGAGCGGGTAACTT	0.557000													26	104					3.73148e-12	4.98214e-12	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2820134	2820134	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr8:2820134G>T	ENST00000520002.1	-	62	10040	c.9485C>A	c.(9484-9486)cCc>cAc	p.P3162H	CSMD1_ENST00000542608.1_Missense_Mutation_p.P2984H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3161H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2985H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2985H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P3162H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3162	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTTCTGCGGGGATGCCAGG	0.493000													3	15					0.00024832	0.000275533	1	1	0
TDP1	55775	broad.mit.edu	37	14	90429666	90429666	+	Missense_Mutation	SNP	T	T	A	rs140058160		TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:90429666T>A	ENST00000335725.4	+	3	458	c.208T>A	c.(208-210)Tca>Aca	p.S70T	TDP1_ENST00000555880.1_Missense_Mutation_p.S70T|TDP1_ENST00000393454.2_Missense_Mutation_p.S70T|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.S70T|TDP1_ENST00000555565.1_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	70					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CAATACAGATTCAGTTTTACC	0.512000								Repair of DNA-protein crosslinks					5	88					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38901812	38901812	+	Missense_Mutation	SNP	C	C	T	rs142842646	by1000genomes	TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr19:38901812C>T	ENST00000454404.2	-	15	1906	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	RASGRP4_ENST00000587738.1_Missense_Mutation_p.D599N|RASGRP4_ENST00000433821.2_Missense_Mutation_p.D507N|RASGRP4_ENST00000586305.1_Missense_Mutation_p.D585N|RASGRP4_ENST00000587753.1_Missense_Mutation_p.D530N|RASGRP4_ENST00000293062.9_Missense_Mutation_p.D502N|RASGRP4_ENST00000426920.2_Missense_Mutation_p.D410N	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	599					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTCCTGCATCGCCCTTGGCC	0.642000													6	17					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677770	169677770	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:169677770T>C	ENST00000236147.4	-	3	459	c.299A>G	c.(298-300)tAc>tGc	p.Y100C	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	87	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TCCTATCCAGTAGTAAGAACG	0.453000													9	17					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869182	22869182	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr22:22869182A>G	ENST00000302097.3	-	2	1025	c.773T>C	c.(772-774)cTa>cCa	p.L258P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGACTTGCTAGACTTGAAAT	0.428000													22	60					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128923778	128923778	+	Silent	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr10:128923778C>T	ENST00000280333.6	+	26	2710	c.2601C>T	c.(2599-2601)ctC>ctT	p.L867L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	867					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCGATCAGCTCAAGTACCATC	0.552000													4	13					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237620035	237620035	+	Splice_Site	SNP	G	G	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:237620035G>C	ENST00000366574.2	+	16	1929	c.1612_splice	c.e16+1	p.A538_splice	RYR2_ENST00000360064.6_Splice_Site_p.A536_splice|RYR2_ENST00000542537.1_Splice_Site_p.A522_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	538					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAGTTGCTGGGTAAGAAGCA	0.433000													17	49					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	11					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367176	107367176	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr9:107367176G>T	ENST00000542196.1	-	1	775	c.733C>A	c.(733-735)Ctg>Atg	p.L245M		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACCACAGTCAGATGGGCTGAA	0.418000													18	48					1.99824e-07	2.50295e-07	1	1	0
ATXN7	6314	broad.mit.edu	37	3	63981969	63981969	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr3:63981969A>T	ENST00000398590.3	+	12	3024	c.2471A>T	c.(2470-2472)cAc>cTc	p.H824L	ATXN7_ENST00000538065.1_Missense_Mutation_p.H824L|ATXN7_ENST00000487717.1_Missense_Mutation_p.H824L|ATXN7_ENST00000484332.1_Missense_Mutation_p.H679L|ATXN7_ENST00000295900.6_Missense_Mutation_p.H824L	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	824	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGTTTTTCCCACTCACACACT	0.483000													3	29					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484530	43484530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:43484530G>T	ENST00000395891.1	+	11	2364	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.E587*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	587					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGGCGCGGAGGAGGAGTCCAC	0.682000													9	20					0.00448238	0.00463497	1	1	0
NPR3	4883	broad.mit.edu	37	5	32780880	32780880	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:32780880C>A	ENST00000265074.8	+	5	1591	c.1248C>A	c.(1246-1248)ttC>ttA	p.F416L	NPR3_ENST00000434067.2_Missense_Mutation_p.F200L|NPR3_ENST00000415167.2_Missense_Mutation_p.F416L|NPR3_ENST00000415685.2_Missense_Mutation_p.F200L	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	416					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATGGGGATTTCTCTGTGATTG	0.542000													22	100					3.28513e-13	4.43492e-13	1	1	0
IGHV1-69	28461	broad.mit.edu	37	14	107170347	107170347	+	RNA	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:107170347G>T	ENST00000390633.2	-	0	81																											CCACAAAGAGGAACCTCCAGG	0.507000													10	46					7.48243e-07	9.18298e-07	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028667	37028667	+	Silent	SNP	G	G	A	rs149639130		TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:37028667G>A	ENST00000358047.3	+	1	2236	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	728								p.P728P(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAGCCTCCTG	0.627000													33	66					0	0	1	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217555	53217555	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr13:53217555A>T	ENST00000342657.3	+	7	2001	c.928A>T	c.(928-930)Agc>Tgc	p.S310C	HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.S310C|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.S310C	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	310	Gly-rich.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						CGTTTCCAGCAGCAGCAGTAG	0.498000													10	30					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153636927	153636927	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:153636927C>T	ENST00000361891.4	-	9	726	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	201	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	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)			GCTGCTAAGGCACTCTGCAAT	0.408000													8	67					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21585237	21585237	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:21585237G>A	ENST00000415912.2	-	6	788	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ECE1_ENST00000374893.6_Silent_p.F237F|ECE1_ENST00000357071.4_Silent_p.F225F|ECE1_ENST00000264205.6_Silent_p.F234F|ECE1_ENST00000436918.2_Silent_p.F237F	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	237					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CATAGACAGAGAAGAAGGGTG	0.602000													11	45					0	0	1	0	0
PXT1	222659	broad.mit.edu	37	6	36368312	36368312	+	Silent	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr6:36368312A>G	ENST00000454782.2	-	4	702	c.219T>C	c.(217-219)caT>caC	p.H73H		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	0						peroxisome											CCTCCTGGTGATGCTTCTGAA	0.423000													30	36					0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46196133	46196133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr17:46196133C>T	ENST00000393405.2	+	6	652	c.298C>T	c.(298-300)Cga>Tga	p.R100*	SNX11_ENST00000582104.1_Nonsense_Mutation_p.R92*|SNX11_ENST00000452859.2_5'UTR|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000439357.2_Nonsense_Mutation_p.R39*|SNX11_ENST00000359238.2_Nonsense_Mutation_p.R100*|SNX11_ENST00000580219.1_Nonsense_Mutation_p.R92*	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	100	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						TGAGAAGCGACGACAAGGTCT	0.537000													11	50					0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18561350	18561350	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr22:18561350G>A	ENST00000329627.6	+	2	414	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	PEX26_ENST00000428061.2_Missense_Mutation_p.V70M|PEX26_ENST00000399744.3_Missense_Mutation_p.V70M	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	70					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAACCACGCCGTGGCAGAGGA	0.667000													5	6					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386810	89386810	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr15:89386810G>A	ENST00000439576.2	+	6	1356	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	ACAN_ENST00000352105.7_Missense_Mutation_p.V328I|ACAN_ENST00000558207.1_Missense_Mutation_p.V328I|ACAN_ENST00000561243.1_Missense_Mutation_p.V328I|ACAN_ENST00000559004.1_Missense_Mutation_p.V328I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	328					cell adhesion		hyaluronic acid binding|sugar binding	p.V328I(4)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGTGAGGACCGTCTACGTGCA	0.682000													9	31					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123268929	123268929	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr4:123268929G>A	ENST00000264501.4	+	76	13497	c.13124G>A	c.(13123-13125)cGa>cAa	p.R4375Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4375Q			Q2LD37	K1109_HUMAN	KIAA1109	4375					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.R4375Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCAGTTCCTCGAAGAGGTAAC	0.413000													6	62					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243542085	243542085	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:243542085G>A	ENST00000366541.3	+	13	1654	c.1536G>A	c.(1534-1536)caG>caA	p.Q512Q	SDCCAG8_ENST00000355875.4_Silent_p.Q469Q|SDCCAG8_ENST00000343783.6_Silent_p.Q367Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	512	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGGAGCAGCAGAAGGCAGCCC	0.468000													4	48					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	88991235	88991235	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:88991235T>C	ENST00000283646.4	+	1	74	c.19T>C	c.(19-21)Ttc>Ctc	p.F7L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	7					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CCCCGGGCCCTTCAGCACCCT	0.746000													3	11					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160033878	160033878	+	Silent	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:160033878C>T	ENST00000327245.5	-	19	3900	c.3054G>A	c.(3052-3054)ttG>ttA	p.L1018L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1018					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATACTGGGTCAATTCCAGAA	0.512000													16	65					0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86239966	86239966	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr6:86239966A>G	ENST00000314673.3	-	19	2014	c.1838T>C	c.(1837-1839)gTc>gCc	p.V613A	SNX14_ENST00000346348.3_Missense_Mutation_p.V560A|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.V561A|SNX14_ENST00000369627.2_Missense_Mutation_p.V604A	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	613	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCTTCTATAGACAGACCAATG	0.303000													8	13					0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21875276	21875276	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:21875276C>A	ENST00000429584.2	+	1	1172	c.674C>A	c.(673-675)cCa>cAa	p.P225Q	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GGGGGGTTACCAGGCATTGAT	0.478000													44	159					5.78141e-17	8.02791e-17	1	1	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363392	21363392	+	RNA	SNP	G	G	A	rs28522842	by1000genomes	TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr22:21363392G>A	ENST00000452284.1	+	0	1059				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						GGGCCCCATCGAATCACAGGG	0.562000													5	56					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791930	209791930	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:209791930C>A	ENST00000391911.1	-	18	3165	c.2776G>T	c.(2776-2778)Gct>Tct	p.A926S	LAMB3_ENST00000356082.4_Missense_Mutation_p.A926S|LAMB3_ENST00000367030.3_Missense_Mutation_p.A926S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	926	Domain I.		A -> D (in dbSNP:rs2076222).		cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGAACAGTAGCTGAGTCTGTG	0.587000													10	49					1.58986e-06	1.91256e-06	1	1	0
RYR3	6263	broad.mit.edu	37	15	34078181	34078181	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr15:34078181C>T	ENST00000389232.4	+	66	9657	c.9587C>T	c.(9586-9588)gCa>gTa	p.A3196V	RYR3_ENST00000415757.3_Missense_Mutation_p.A3196V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3196					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCGCATTGCAGGTACCGAC	0.488000													19	69					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140265375	140265375	+	Silent	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr4:140265375A>G	ENST00000296543.5	+	6	896	c.573A>G	c.(571-573)gaA>gaG	p.E191E	NAA15_ENST00000398947.1_Silent_p.E191E|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	191					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			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						AATATAGTGAACTACTCTTAT	0.338000													14	22					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357055	37357055	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr20:37357055C>A	ENST00000217420.1	+	2	1614	c.1351C>A	c.(1351-1353)Ccg>Acg	p.P451T		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	451					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CATTTATGTGCCGCACTTCGC	0.672000													10	26					1.58986e-06	1.91256e-06	1	1	0
FLNA	2316	broad.mit.edu	37	X	153589730	153589730	+	Silent	SNP	G	G	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:153589730G>C	ENST00000422373.1	-	21	3401	c.3153C>G	c.(3151-3153)ccC>ccG	p.P1051P	FLNA_ENST00000369850.3_Silent_p.P1051P|FLNA_ENST00000344736.4_Silent_p.P1051P|FLNA_ENST00000360319.4_Silent_p.P1051P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1051					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCAGGCACGGGCACGCCGT	0.632000													16	40					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39052023	39052023	+	Missense_Mutation	SNP	G	G	A	rs151119428		TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr19:39052023G>A	ENST00000355481.4	+	89	12669	c.12538G>A	c.(12538-12540)Gcg>Acg	p.A4180T	RYR1_ENST00000359596.3_Missense_Mutation_p.A4185T|RYR1_ENST00000360985.3_Missense_Mutation_p.A4180T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4185					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			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)	GATCATGGGCGCGTCACGCCG	0.647000													4	63					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239348	3239348	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:3239348G>T	ENST00000217939.6	-	5	4532	c.4378C>A	c.(4378-4380)Ctt>Att	p.L1460I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1460						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTTGATCAAGGGTGGTGGTT	0.493000													16	33					2.32078e-09	2.99974e-09	1	1	0
USH2A	7399	broad.mit.edu	37	1	216062281	216062281	+	Silent	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:216062281T>C	ENST00000366943.2	-	41	8096	c.7710A>G	c.(7708-7710)ctA>ctG	p.L2570L	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Silent_p.L2570L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2570	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GACGGCCATGTAGATAAATGT	0.418000										HNSCC(13;0.011)			47	70					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68459006	68459006	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr4:68459006T>C	ENST00000265404.2	+	8	840	c.758T>C	c.(757-759)aTt>aCt	p.I253T	STAP1_ENST00000396225.1_Missense_Mutation_p.I253T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	253	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TTCAGTGTCATTGATTATTTT	0.368000													14	33					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464707	104464707	+	Silent	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:104464707C>T	ENST00000372578.3	-	2	486	c.375G>A	c.(373-375)gcG>gcA	p.A125A	TEX13A_ENST00000413579.1_Silent_p.A125A|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.A125A	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	125						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCGGGAGGCCGCCTCCTTGC	0.592000													13	31					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358986	10358986	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr17:10358986G>A	ENST00000255381.2	-	19	2229	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	707	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGCAGATGCGGATGCCTTCC	0.468000													4	27					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595843	36595843	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:36595843C>A	ENST00000299440.5	+	2	1101	c.989C>A	c.(988-990)tCt>tAt	p.S330Y		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	330					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TATTGTCCCTCTTGCCGATAT	0.502000									Familial Hemophagocytic Lymphohistiocytosis				9	35					7.48243e-07	9.18298e-07	1	1	0
SPEG	10290	broad.mit.edu	37	2	220354242	220354242	+	Silent	SNP	G	G	T	rs148685205	by1000genomes	TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:220354242G>T	ENST00000312358.7	+	36	8634	c.8502G>T	c.(8500-8502)tcG>tcT	p.S2834S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2834	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTTGTCCTCGCTCAAGGCTG	0.682000													26	59					2.44723e-14	3.34088e-14	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11157246	11157246	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:11157246C>T	ENST00000337414.4	-	13	3534	c.2662G>A	c.(2662-2664)Ggg>Agg	p.G888R	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.G685R|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.G685R	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	888					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCGGGCTTCCCTGGGCCCGGG	0.716000													6	7					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15613018	15613018	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:15613018C>A	ENST00000427411.1	-	3	511	c.295G>T	c.(295-297)Gct>Tct	p.A99S	ACE2_ENST00000252519.3_Missense_Mutation_p.A99S	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	99					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TGCTGAAGAGCCTGCAGCTGA	0.433000													42	146					7.63091e-17	1.05359e-16	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62146658	62146658	+	Nonstop_Mutation	SNP	A	A	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr15:62146658A>C	ENST00000261517.5	-	85	11333	c.11260T>G	c.(11260-11262)Taa>Gaa	p.*3754E	VPS13C_ENST00000249837.3_Nonstop_Mutation_p.*3711E	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	0					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTCTGTGATTAAGATGGCAAT	0.428000													15	90					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995296	140995296	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:140995296G>T	ENST00000285879.4	+	4	2392	c.2106G>T	c.(2104-2106)gaG>gaT	p.E702D	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	702							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGAGAGGACTCCCTGT	0.562000										HNSCC(15;0.026)			14	102					9.31168e-06	1.10919e-05	1	1	0
VNN3	55350	broad.mit.edu	37	6	133048145	133048145	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr6:133048145G>T	ENST00000367927.5	-	4	616	c.544C>A	c.(544-546)Ctt>Att	p.L182I	VNN3_ENST00000509351.1_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000414302.2_Silent_p.I117I|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000207771.3_Missense_Mutation_p.L182I					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GGTGCAAAAAGATTGTACTGT	0.343000													5	8					0.014758	0.0151957	1	1	0
KIAA1024	23251	broad.mit.edu	37	15	79760631	79760631	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr15:79760631C>G	ENST00000305428.3	+	4	2731	c.2656C>G	c.(2656-2658)Cga>Gga	p.R886G		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	886						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGAATTCAGACGAGCCAAGGT	0.433000													7	26					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152759953	152759953	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:152759953T>A	ENST00000368770.3	+	2	231	c.178T>A	c.(178-180)Tgt>Agt	p.C60S	LCE1E_ENST00000368771.1_Missense_Mutation_p.C60S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	60	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGGGCAGCTGTGGCTCCAG	0.662000													35	57					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003675	34003675	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr6:34003675G>T	ENST00000374181.3	-	8	2381	c.2212C>A	c.(2212-2214)Cgc>Agc	p.R738S	GRM4_ENST00000538487.1_Missense_Mutation_p.R738S|GRM4_ENST00000374177.3_Missense_Mutation_p.R622S|GRM4_ENST00000535756.1_Missense_Mutation_p.R605S|GRM4_ENST00000545715.1_Missense_Mutation_p.R430S|GRM4_ENST00000455714.2_Missense_Mutation_p.R598S|GRM4_ENST00000544773.1_Missense_Mutation_p.R569S	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	738					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R738C(2)|p.R622C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTGGCGAAGCGGGGGTCGAGT	0.622000													14	29					1.5842e-08	2.0155e-08	1	1	0
FGD5	152273	broad.mit.edu	37	3	14863095	14863095	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr3:14863095C>G	ENST00000285046.5	+	1	2627	c.2517C>G	c.(2515-2517)gaC>gaG	p.D839E	FGD5_ENST00000543601.1_Missense_Mutation_p.D598E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	839					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGACCAGGACGCAGAAAGGT	0.527000													9	13					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36207798	36207798	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:36207798G>A	ENST00000258840.6	-	12	1898	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S503F|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S503F|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S503F			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	503					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCTTGGTAGGAGCCGTTTTT	0.408000													15	35					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	36002305	36002305	+	Silent	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr17:36002305C>T	ENST00000349699.2	-	2	163	c.120G>A	c.(118-120)tcG>tcA	p.S40S	DDX52_ENST00000394367.3_5'UTR	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	40						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GAAGCACCTCCGAAGAATCAA	0.398000													7	51					0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56542959	56542959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:56542959G>T	ENST00000424459.3	+	9	2055	c.781G>T	c.(781-783)Gag>Tag	p.E261*	GPBP1_ENST00000454432.2_Nonsense_Mutation_p.E261*|GPBP1_ENST00000264779.6_Nonsense_Mutation_p.E248*|GPBP1_ENST00000514387.2_Nonsense_Mutation_p.E70*|GPBP1_ENST00000506184.2_Nonsense_Mutation_p.E241*|GPBP1_ENST00000511209.1_Nonsense_Mutation_p.E248*|GPBP1_ENST00000538707.1_Nonsense_Mutation_p.E248*	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTTCCCTCATGAGTCCACATT	0.343000													7	16					0.000157383	0.000177056	1	1	0
OLFML2B	25903	broad.mit.edu	37	1	161953954	161953954	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:161953954G>A	ENST00000294794.3	-	8	2187	c.1764C>T	c.(1762-1764)taC>taT	p.Y588Y	OLFML2B_ENST00000367938.1_Silent_p.Y71Y|OLFML2B_ENST00000367940.2_Silent_p.Y589Y	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	588	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTTCAGGTCGTACTTGATGA	0.602000													9	39					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205123	66205123	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr6:66205123C>T	ENST00000503581.1	-	4	718	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	EYS_ENST00000342421.5_Missense_Mutation_p.G61S|EYS_ENST00000370618.3_Missense_Mutation_p.G61S|EYS_ENST00000393380.2_Missense_Mutation_p.G61S|EYS_ENST00000370621.3_Missense_Mutation_p.G61S|EYS_ENST00000370616.2_Missense_Mutation_p.G61S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	61					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGTTTACACCCAAAAACCAG	0.393000													28	52					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192733	152192733	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:152192733C>A	ENST00000368801.2	-	3	1447	c.1372G>T	c.(1372-1374)Ggt>Tgt	p.G458C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	458					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGCCTGAACCAGACACATAT	0.592000													8	221					0.000157383	0.000177056	1	1	0
GRAMD1B	57476	broad.mit.edu	37	11	123465463	123465463	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:123465463A>G	ENST00000529750.1	+	5	688	c.361A>G	c.(361-363)Aga>Gga	p.R121G	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R121G|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R128G	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	121	GRAM.					integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGCACTCCAAAGAGACATTCT	0.517000													7	28					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907286	16907286	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:16907286T>A	ENST00000430580.2	-	16	2432	c.1545A>T	c.(1543-1545)agA>agT	p.R515S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	515	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGAGGATTCTCTGTCTACAA	0.453000													40	1377					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756217	94756217	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:94756217G>C	ENST00000554723.1	-	2	1252	c.834C>G	c.(832-834)ttC>ttG	p.F278L	SERPINA10_ENST00000393096.1_Missense_Mutation_p.F238L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.F238L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.F238L			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	238					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGTACCTTTGAACAAGATGT	0.408000													17	32					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998161	27998161	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:27998161A>T	ENST00000441525.1	-	1	1405	c.1291T>A	c.(1291-1293)Tat>Aat	p.Y431N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	431										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGCCCCTTATATCTCTTAACA	0.453000													17	37					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179325123	179325123	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:179325123C>T	ENST00000409117.3	+	6	1072	c.716C>T	c.(715-717)aCg>aTg	p.T239M	DFNB59_ENST00000375129.4_Missense_Mutation_p.T239M	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	239					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGGGAAGAAACGGCAACATTT	0.318000													5	30					0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150233898	150233898	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:150233898G>A	ENST00000369111.4	+	3	1087	c.117G>A	c.(115-117)gaG>gaA	p.E39E		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	39						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTACCCTGAGTGTGGAAACA	0.552000													7	47					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40730835	40730835	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr20:40730835C>A	ENST00000373198.3	-	27	3944	c.3709G>T	c.(3709-3711)Gac>Tac	p.D1237Y	PTPRT_ENST00000373187.1_Missense_Mutation_p.D1215Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1214Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1218Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1224Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1225Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.D1205Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1215	Tyrosine-protein phosphatase 2.		M -> L (in a colorectal cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCAGCGGTCCAGAGGCAGC	0.572000													9	50					0.00448238	0.00463497	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126751305	126751305	+	Silent	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr3:126751305G>T	ENST00000393409.2	+	29	5307	c.5307G>T	c.(5305-5307)acG>acT	p.T1769T	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Silent_p.T1746T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1769					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACAGCATCACGGACGCCTGCT	0.592000													9	40					0.00010058	0.000114746	1	1	0
NDUFA1	4694	broad.mit.edu	37	X	119007322	119007322	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:119007322G>A	ENST00000371437.4	+	2	583	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	53			R -> C (in a colorectal cancer sample; somatic mutation).		mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5					NADH(DB00157)	AGAGATAGGCGCATCTCTGGA	0.433000													6	71					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73068361	73068361	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:73068361A>G	ENST00000263674.3	+	9	4426	c.4076A>G	c.(4075-4077)gAc>gGc	p.D1359G		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1359					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAAGACGCAGACATCATCAAA	0.587000													8	7					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104717615	104717615	+	Missense_Mutation	SNP	A	A	G	rs148942943		TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:104717615A>G	ENST00000334877.4	+	10	1508	c.974A>G	c.(973-975)aAt>aGt	p.N325S	KMT2E_ENST00000257745.4_Missense_Mutation_p.N325S|KMT2E_ENST00000311117.3_Missense_Mutation_p.N325S|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.N325S					lysine (K)-specific methyltransferase 2E																		AATACCAACAATTTGCTCTTC	0.338000													12	19					0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893105	44893105	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr22:44893105C>A	ENST00000341255.3	-	2	841	c.332G>T	c.(331-333)cGg>cTg	p.R111L		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	111										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCCCGCCAACCGGCCTGGGTC	0.612000													3	18					6.4e-05	7.37062e-05	1	1	0
WNK3	65267	broad.mit.edu	37	X	54319700	54319700	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:54319700G>T	ENST00000354646.2	-	9	2192	c.1754C>A	c.(1753-1755)cCc>cAc	p.P585H	WNK3_ENST00000375169.3_Missense_Mutation_p.P585H|WNK3_ENST00000375159.2_Missense_Mutation_p.P585H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	585					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGCTACACTGGGCTGACTTGA	0.398000													7	27					0.0477658	0.0483628	1	1	0
FLG	2312	broad.mit.edu	37	1	152280686	152280686	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:152280686C>T	ENST00000368799.1	-	3	6711	c.6676G>A	c.(6676-6678)Ggc>Agc	p.G2226S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2226	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCCTGGCCCACCAGTGAG	0.557000									Ichthyosis				118	217					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274341	39274341	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr17:39274341C>T	ENST00000391413.2	-	1	265	c.227G>A	c.(226-228)cGc>cAc	p.R76H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	76	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGACAGCAGCT	0.657000													11	68					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70856056	70856056	+	Silent	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:70856056A>G	ENST00000358731.4	+	37	7751	c.7488A>G	c.(7486-7488)tcA>tcG	p.S2496S	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2496					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTAAAGCCTCACTATCCAGGT	0.368000													7	28					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578257	7578257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr17:7578257C>A	ENST00000420246.2	-	6	724	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E198*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E198*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E198*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E198*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E198*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	198	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E198*(27)|p.0?(8)|p.E198K(5)|p.?(5)|p.P191_E198>Q(3)|p.E105*(3)|p.E66*(3)|p.E198fs*11(2)|p.E198Q(2)|p.E198fs*7(1)|p.E198fs*49(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAATTTCCTTCCACTCGGATA	0.547000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	21					0.000442599	0.000482294	1	1	0
TNN	63923	broad.mit.edu	37	1	175067491	175067491	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:175067491G>T	ENST00000239462.4	+	9	1992	c.1879G>T	c.(1879-1881)Gtg>Ttg	p.V627L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	627	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAAAACCTGGTGACTGACCG	0.512000													29	107					2.65835e-16	3.64959e-16	1	1	0
MAPKAPK2	9261	broad.mit.edu	37	1	206905049	206905049	+	Silent	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:206905049T>C	ENST00000367103.3	+	8	1150	c.957T>C	c.(955-957)ttT>ttC	p.F319F	MAPKAPK2_ENST00000294981.4_Silent_p.F319F|MAPKAPK2_ENST00000479009.1_3'UTR	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	319	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCACCGAGTTTATGAACCACC	0.567000													38	93					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64749665	64749665	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:64749665C>A	ENST00000374811.3	-	5	648	c.608G>T	c.(607-609)aGg>aTg	p.R203M	LAS1L_ENST00000374804.5_Missense_Mutation_p.R161M|LAS1L_ENST00000312391.8_Missense_Mutation_p.R203M|LAS1L_ENST00000374807.5_Missense_Mutation_p.R203M	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	203						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TATCCCTTCCCTGAACTCCTC	0.498000													15	92					0.0202918	0.0208055	1	1	0
BPGM	669	broad.mit.edu	37	7	134346378	134346378	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:134346378A>T	ENST00000393132.2	+	3	608	c.119A>T	c.(118-120)aAc>aTc	p.N40I	BPGM_ENST00000418040.1_Missense_Mutation_p.N40I|BPGM_ENST00000344924.3_Missense_Mutation_p.N40I	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	40					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						GAAGCTCGGAACTGTGGGAAG	0.453000													18	46					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89498519	89498519	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr3:89498519C>G	ENST00000336596.2	+	14	2716	c.2491C>G	c.(2491-2493)Cag>Gag	p.Q831E	EPHA3_ENST00000494014.1_Missense_Mutation_p.Q831E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	831	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATGTCCAATCAGGATGTAAG	0.448000										TSP Lung(6;0.00050)			28	43					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462537	5462537	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:5462537G>A	ENST00000380211.1	-	1	207	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCATTGAGAGCGAGCATA	0.463000													11	41					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74413187	74413187	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:74413187G>T	ENST00000286544.3	-	2	563	c.365C>A	c.(364-366)tCt>tAt	p.S122Y	FAM161B_ENST00000534936.1_Missense_Mutation_p.S59Y	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GTCAGAAGTAGAATCTATCTC	0.532000													20	90					5.35267e-07	6.63621e-07	1	1	0
KCNQ2	3785	broad.mit.edu	37	20	62071009	62071009	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr20:62071009C>A	ENST00000354587.3	-	6	1045	c.869G>T	c.(868-870)gGc>gTc	p.G290V	KCNQ2_ENST00000370224.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G290V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G290V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G290V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G290V|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G290V|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G290V			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	290					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			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)	AAGGAGCCTGCCGTTCCAGGT	0.632000													11	40					2.27111e-07	2.83015e-07	1	1	0
PRKX	5613	broad.mit.edu	37	X	3573368	3573368	+	Silent	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:3573368G>T	ENST00000262848.5	-	3	775	c.421C>A	c.(421-423)Cgg>Agg	p.R141R	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	141	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				AAGCGCCCCCGGTTGCGCAGG	0.592000													10	49					0.000442599	0.000482294	1	1	0
CAPN6	827	broad.mit.edu	37	X	110495656	110495656	+	Nonsense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:110495656A>T	ENST00000324068.1	-	5	745	c.578T>A	c.(577-579)tTg>tAg	p.L193*	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	193	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGTTTCAGCCAATGTGCCCGT	0.448000													22	50					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96769469	96769469	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:96769469T>C	ENST00000359933.4	-	33	5859	c.4966A>G	c.(4966-4968)Aca>Gca	p.T1656A	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1656										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTTGTGATGTTGCCAAACGA	0.433000													7	41					0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68765023	68765023	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:68765023C>T	ENST00000303795.4	+	7	995	c.824C>T	c.(823-825)tCt>tTt	p.S275F	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	275					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAATCATTTTCTGCAATCACA	0.284000													3	19					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154996949	154996949	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:154996949A>T	ENST00000392825.3	+	4	809	c.242A>T	c.(241-243)aAt>aTt	p.N81I	GALNT13_ENST00000409237.1_Missense_Mutation_p.N81I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	81						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTTAAAATCAATCAGTTTAAC	0.358000													8	32					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724658	38724658	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:38724658C>G	ENST00000342213.2	-	1	916	c.570G>C	c.(568-570)ttG>ttC	p.L190F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	190						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CGCGATAGCTCAAGTTAGAgg	0.657000													4	70					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145849210	145849210	+	Silent	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:145849210A>G	ENST00000296702.5	+	7	1340	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	TCERG1_ENST00000394421.2_Silent_p.E413E	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	434	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTTTCTGAATGGACTGAAT	0.413000													26	114					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125621346	125621346	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr12:125621346C>T	ENST00000316519.6	+	17	2023	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	AACS_ENST00000261686.6_Intron|AACS_ENST00000316543.10_Missense_Mutation_p.A204V|AACS_ENST00000545511.1_Intron|AACS_ENST00000543665.1_Intron	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	606					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATCCGTGACGCCATCCGCATG	0.617000													4	50					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411177	121411177	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr3:121411177C>A	ENST00000393667.3	-	14	7144	c.7034G>T	c.(7033-7035)gGg>gTg	p.G2345V	GOLGB1_ENST00000340645.5_Missense_Mutation_p.G2340V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2340					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTATGATCCCTTCCAAGTT	0.388000													10	36					0.000442599	0.000482294	1	1	0
RSBN1	54665	broad.mit.edu	37	1	114308935	114308935	+	Silent	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:114308935C>A	ENST00000261441.5	-	7	2139	c.2076G>T	c.(2074-2076)gtG>gtT	p.V692V	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	692						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAAGCTGCACACCGCCGAAA	0.438000													13	80					0.00185496	0.00194291	1	1	0
TTN	7273	broad.mit.edu	37	2	179439793	179439793	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:179439793G>A	ENST00000589042.1	-	326	71290	c.71066C>T	c.(71065-71067)aCc>aTc	p.T23689I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T22048I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T14749I|TTN_ENST00000342175.6_Missense_Mutation_p.T14816I|TTN_ENST00000460472.2_Missense_Mutation_p.T14624I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21121I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22048	Fibronectin type-III 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTAAAATGGTTGAAGTCGC	0.428000													6	21					0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72435815	72435815	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr9:72435815C>T	ENST00000377197.3	+	1	107	c.20C>T	c.(19-21)tCc>tTc	p.S7F	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.S7F	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	7						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CTTGACAGATCCTGCCAGGAC	0.597000													4	21					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52252240	52252240	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr8:52252240C>T	ENST00000356297.4	-	21	4190	c.4090G>A	c.(4090-4092)Gat>Aat	p.D1364N	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1364					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGCTGAAATCTTGGGAGAAC	0.373000													12	85					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624882	123624882	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:123624882G>A	ENST00000327930.2	-	1	371	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAAAAGACATGATAGTGAGGA	0.552000													7	32					0	0	1	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176779	142176779	+	RNA	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:142176779C>A	ENST00000390369.2	-	0	11																											AGCAGAGGAGCCTGGTGCCCA	0.542000													29	38					1.06801e-11	1.41818e-11	1	1	0
GPATCH2	55105	broad.mit.edu	37	1	217793428	217793428	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:217793428G>C	ENST00000366935.3	-	2	580	c.470C>G	c.(469-471)aCt>aGt	p.T157S	GPATCH2_ENST00000366934.3_Missense_Mutation_p.T157S	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	157						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCTGCGCAGAGTTCTATTCCC	0.468000													22	73					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504370	220504370	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:220504370C>T	ENST00000358055.3	+	20	3702	c.3190C>T	c.(3190-3192)Cgt>Tgt	p.R1064C	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R1091C|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R1064C|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R1064C|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R1091C			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1064	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAGTGATGCGTACTGCCAT	0.662000													7	30					0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	36004049	36004049	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr19:36004049C>T	ENST00000339686.3	-	1	505	c.329G>A	c.(328-330)gGg>gAg	p.G110E	DMKN_ENST00000419602.1_Missense_Mutation_p.G110E|DMKN_ENST00000424570.2_Missense_Mutation_p.G110E|DMKN_ENST00000418261.1_Missense_Mutation_p.G110E|DMKN_ENST00000440396.1_Missense_Mutation_p.G110E|DMKN_ENST00000429837.1_Missense_Mutation_p.G110E|DMKN_ENST00000451297.2_Missense_Mutation_p.G110E|DMKN_ENST00000447113.2_Missense_Mutation_p.G110E	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	110	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AATCTCGTGCCCAGTGTTTCC	0.607000													4	46					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42574567	42574567	+	Silent	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr20:42574567C>A	ENST00000358131.5	+	1	223	c.15C>A	c.(13-15)cgC>cgA	p.R5R	TOX2_ENST00000341197.3_Intron|TOX2_ENST00000423191.1_Intron|TOX2_ENST00000372999.1_Intron	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCAGACTCGCACAGAGGCTG	0.527000													11	30					0.000673444	0.000720911	1	1	0
DBX1	120237	broad.mit.edu	37	11	20178124	20178124	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:20178124A>T	ENST00000227256.3	-	4	784	c.785T>A	c.(784-786)tTc>tAc	p.F262Y	DBX1_ENST00000524983.2_Intron	NM_001029865.2	NP_001025036.2	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	223					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TTTCACCTGGAATGTCCCGGC	0.647000													9	39					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151358391	151358391	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:151358391C>A	ENST00000370314.4	-	9	1192	c.954G>T	c.(952-954)atG>atT	p.M318I	GABRA3_ENST00000535043.1_Missense_Mutation_p.M318I|GABRA3_ENST00000370311.1_Missense_Mutation_p.M318I|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	318					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCAAGGTGGTCATGGTAAGCA	0.443000													9	44					1.12685e-05	1.33573e-05	1	1	0
WDR70	55100	broad.mit.edu	37	5	37392209	37392209	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:37392209A>G	ENST00000265107.4	+	4	439	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E	WDR70_ENST00000504564.1_Missense_Mutation_p.K95E	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	95	Ser-rich.									central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGATTGCTCCAAATCATCTTC	0.308000													7	76					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637203	18637203	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:18637203T>G	ENST00000336349.5	-	3	853	c.618A>C	c.(616-618)gaA>gaC	p.E206D		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	206										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GTTCAAGGAATTCTCGCTCCC	0.448000													34	72					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128630055	128630055	+	Silent	SNP	T	T	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:128630055T>A	ENST00000393245.1	-	11	1933	c.1560A>T	c.(1558-1560)ggA>ggT	p.G520G	TNPO3_ENST00000471234.1_Silent_p.G486G|TNPO3_ENST00000471166.1_Silent_p.G520G|TNPO3_ENST00000482320.1_Silent_p.G420G|TNPO3_ENST00000265388.5_Silent_p.G486G	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	486					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CACTCATCTCTCCAACCAATT	0.458000													11	61					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036509	21036509	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr12:21036509G>A	ENST00000381545.3	+	13	1874	c.1655G>A	c.(1654-1656)gGt>gAt	p.G552D	LST3_ENST00000540229.1_Missense_Mutation_p.G552D|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G552D|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G552D|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	552					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCAACAGGAGGTACCACATTT	0.348000													21	30					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470312	70470312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:70470312G>T	ENST00000373998.1	-	5	1740	c.1043C>A	c.(1042-1044)tCg>tAg	p.S348*	ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.S350*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.S348*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.S350*|ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.S348*|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.S348*|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.S350*	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	348					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTTTTTGCCCGAGGGCTTCTT	0.577000													4	12					0.150653	0.151904	1	1	0
YY2	404281	broad.mit.edu	37	X	21874983	21874983	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:21874983G>A	ENST00000429584.2	+	1	879	c.381G>A	c.(379-381)gcG>gcA	p.A127A	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGGCCTCGGCGGCATCAACAT	0.597000													4	40					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176759078	176759078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:176759078C>T	ENST00000367662.3	+	18	6013	c.4849C>T	c.(4849-4851)Cag>Tag	p.Q1617*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1617	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGGACAGCCAGTGTGTGCT	0.473000													5	110					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102508922	102508922	+	Silent	SNP	A	A	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:102508922A>C	ENST00000321521.9	+	20	2923	c.2350A>C	c.(2350-2352)Aga>Cga	p.R784R	PPIP5K2_ENST00000414217.1_Silent_p.R784R|PPIP5K2_ENST00000358359.3_Silent_p.R784R|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	784					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCTCTGGTTAGAAAAATTCG	0.358000													3	26					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150828286	150828286	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:150828286G>A	ENST00000370357.4	+	10	1064	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	273						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTTTCCTGGATACTATGC	0.388000													11	47					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59244924	59244924	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:59244924A>T	ENST00000530162.1	+	1	79	c.22A>T	c.(22-24)Agg>Tgg	p.R8W		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAACTGCACCAGGGTAAAAGA	0.388000													17	39					0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119629	17119629	+	RNA	SNP	G	G	T	rs138266670	by1000genomes	TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr22:17119629G>T	ENST00000426585.1	+	0	441																											ATTTGTAGAAGGGTAAGTTTG	0.373000													5	20					0.000602214	0.000647514	1	1	0
KCNV1	27012	broad.mit.edu	37	8	110984758	110984758	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr8:110984758C>A	ENST00000524391.1	-	3	1752	c.720G>T	c.(718-720)caG>caT	p.Q240H	KCNV1_ENST00000297404.1_Missense_Mutation_p.Q240H			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	240						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTTCCAGCAGCTGCAGGTCCA	0.537000													15	40					0.000219431	0.000245723	1	1	0
PLEKHM3	389072	broad.mit.edu	37	2	208795816	208795816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:208795816C>A	ENST00000457206.1	-	5	2147	c.1720G>T	c.(1720-1722)Gag>Tag	p.E574*	PLEKHM3_ENST00000427836.2_Nonsense_Mutation_p.E574*|PLEKHM3_ENST00000389247.4_Nonsense_Mutation_p.E574*			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	574					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACACGTACTCCAGAAACTCC	0.597000													16	52					3.45872e-05	4.06023e-05	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22804706	22804706	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr18:22804706T>A	ENST00000361524.3	-	4	3324	c.3176A>T	c.(3175-3177)cAg>cTg	p.Q1059L	ZNF521_ENST00000538137.2_Missense_Mutation_p.Q1059L|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q839L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1059					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGGACGTGCTGGCCCCGCCC	0.498000			T	PAX5	ALL								7	26					0	0	1	0	0
C21orf91	54149	broad.mit.edu	37	21	19168902	19168902	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr21:19168902C>A	ENST00000284881.4	-	3	751	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Nonsense_Mutation_p.E221*|C21orf91_ENST00000400558.3_Nonsense_Mutation_p.E221*	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	221										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TACTTACATTCCTCTCTGCTG	0.408000													21	79					6.44725e-10	8.46855e-10	1	1	0
LYZL2	119180	broad.mit.edu	37	10	30915036	30915036	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr10:30915036G>A	ENST00000375318.2	-	3	490	c.434C>T	c.(433-435)tCa>tTa	p.S145L		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	99					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				AGCCTCACCTGAGCAGGCGAC	0.532000													7	65					0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134303518	134303518	+	Splice_Site	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:134303518C>G	ENST00000344129.2	-	2	505	c.279_splice	c.e2+1	p.K93_splice	CXorf48_ENST00000276241.6_Splice_Site_p.K93_splice	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	93										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					CACATCTCACCTTGATTGCTC	0.418000													4	27					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031389	33031389	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr12:33031389C>T	ENST00000340811.4	-	3	533	c.425G>A	c.(424-426)aGg>aAg	p.R142K	PKP2_ENST00000070846.6_Missense_Mutation_p.R142K	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	142					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.R142I(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAGAGGATGCCTCAAGGACCT	0.567000													39	147					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382348	152382348	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:152382348C>A	ENST00000271835.3	-	3	1272	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	404					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTCTGGGCCTGTCCTCCC	0.607000													37	73					9.17885e-22	1.29678e-21	1	1	0
ZNF76	7629	broad.mit.edu	37	6	35260463	35260463	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr6:35260463G>T	ENST00000373953.3	+	10	1330	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	ZNF76_ENST00000440666.2_Missense_Mutation_p.R329L|ZNF76_ENST00000339411.5_Missense_Mutation_p.R355L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	355					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AAGACCTACCGGCAGACCTCC	0.617000													9	16					0.000274275	0.000302949	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88847516	88847516	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:88847516G>T	ENST00000333190.4	+	2	765	c.156G>T	c.(154-156)aaG>aaT	p.K52N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	52						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGATGTAAAGGCAAACTTTT	0.363000										HNSCC(36;0.09)			6	49					0.00116845	0.00123449	1	1	0
IGHV1-69	28461	broad.mit.edu	37	14	107170138	107170138	+	RNA	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:107170138G>A	ENST00000390633.2	-	0	204																											CATAGCTGCTGAAGGTGCCTC	0.587000													21	74					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307420	140307420	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:140307420G>A	ENST00000253807.2	+	1	943	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E315K|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGGACGAAGGTGTCTT	0.547000													17	61					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1539142	1539142	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:1539142C>G	ENST00000389470.4	-	7	1194	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	INTS1_ENST00000404767.3_Missense_Mutation_p.E271Q			Q8N201	INT1_HUMAN	integrator complex subunit 1	271					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGGCCCGCCTCCCCCTGCAGC	0.672000													5	19					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901397	129901397	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr10:129901397T>A	ENST00000368654.3	-	13	9082	c.8707A>T	c.(8707-8709)Aga>Tga	p.R2903*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.R2543*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2903	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTGGCTGTCTCCTGCTGCCA	0.542000													21	104					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234663	21234663	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:21234663G>T	ENST00000233242.1	-	26	5204	c.5077C>A	c.(5077-5079)Cac>Aac	p.H1693N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1693					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGCATTGTGTTCCCTGAAG	0.488000													14	100					0.000151284	0.000171786	1	1	0
FLG	2312	broad.mit.edu	37	1	152282447	152282447	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:152282447C>T	ENST00000368799.1	-	3	4950	c.4915G>A	c.(4915-4917)Gat>Aat	p.D1639N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1639	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTCTATCTTCTTGATGG	0.552000									Ichthyosis				27	295					0	0	1	0	0
MCUR1	63933	broad.mit.edu	37	6	13799070	13799070	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr6:13799070C>T	ENST00000379170.4	-	6	988	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		CGTACCAATTCTTTTACTCTG	0.333000													15	10					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917546	43917546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:43917546G>A	ENST00000336086.6	-	4	3623	c.1387C>T	c.(1387-1389)Caa>Taa	p.Q463*	URGCP_ENST00000443736.1_Nonsense_Mutation_p.Q463*|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Nonsense_Mutation_p.Q506*|URGCP_ENST00000402306.3_Nonsense_Mutation_p.Q497*|URGCP_ENST00000223341.7_Nonsense_Mutation_p.Q463*|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Nonsense_Mutation_p.Q463*			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	506					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTCCACTTGGGCTGCCTTT	0.597000													34	62					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43481398	43481398	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr17:43481398A>T	ENST00000532038.1	-	6	1013	c.878T>A	c.(877-879)cTc>cAc	p.L293H	ARHGAP27_ENST00000455881.1_Missense_Mutation_p.L174H|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.L493H|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.L174H|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.L515H|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.L488H|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.L147H			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	515					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CTCTCACCGGAGCCGCTTTCC	0.572000													4	27					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363505	21363505	+	RNA	SNP	C	C	T	rs2516542	by1000genomes	TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr22:21363505C>T	ENST00000452284.1	+	0	1172				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						GCTTTGCTGTCGACTATGAAG	0.567000													4	58					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233409177	233409177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:233409177C>A	ENST00000389494.3	+	10	1157	c.1136C>A	c.(1135-1137)tCg>tAg	p.S379*	CHRNG_ENST00000389492.3_Nonsense_Mutation_p.S327*	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	379					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		AATGGCTCCTCGGGATGGTCG	0.667000													23	67					1.64293e-13	2.23035e-13	1	1	0
PCDHGA11	56105	broad.mit.edu	37	5	140802551	140802551	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:140802551G>A	ENST00000398587.2	+	1	1790	c.1757G>A	c.(1756-1758)gGc>gAc	p.G586D	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G586D|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAACCTGGCTACCTGGTG	0.647000													6	96					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49450351	49450351	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr10:49450351C>T	ENST00000374201.3	-	5	722	c.420G>A	c.(418-420)atG>atA	p.M140I	FRMPD2_ENST00000407470.4_Missense_Mutation_p.M109I|FRMPD2_ENST00000305531.3_Missense_Mutation_p.M116I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	140	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGTCTTCACACATGGTCAGCA	0.617000													4	68					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66625659	66625659	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:66625659G>A	ENST00000309602.4	+	1	687	c.444G>A	c.(442-444)gaG>gaA	p.E148E	PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Silent_p.E148E|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	148						integral to membrane				breast(1)|lung(1)|prostate(1)	3						AGAGCCTGGAGGACCTGGACC	0.657000													18	29					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67508510	67508510	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr18:67508510G>A	ENST00000382713.5	+	8	1077	c.887G>A	c.(886-888)cGt>cAt	p.R296H		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	296							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AAGATGTCTCGTGCACAGACA	0.502000													10	45					0	0	1	0	0
ARL4A	10124	broad.mit.edu	37	7	12728429	12728429	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:12728429G>A	ENST00000396663.1	+	2	1032	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N|ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	184					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GAAACTACATGATATGATCAT	0.393000													10	52					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669197	234669197	+	Silent	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:234669197G>T	ENST00000360418.3	+	1	264	c.264G>T	c.(262-264)gtG>gtT	p.V88V	UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Silent_p.V88V|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron			P22309	UD11_HUMAN		88					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGGAGGATGTGAAAGAGTCTT	0.418000													26	127					7.41945e-09	9.48909e-09	1	1	0
HNF1A	6927	broad.mit.edu	37	12	121437354	121437354	+	Silent	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr12:121437354C>T	ENST00000257555.6	+	9	1918	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	HNF1A_ENST00000544413.1_Silent_p.T571T|HNF1A_ENST00000541395.1_Silent_p.T595T			P20823	HNF1A_HUMAN	HNF1 homeobox A	564					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGCCACCACCCTCCACGTCC	0.706000									Hepatic Adenoma, Familial Clustering of				3	22					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136249642	136249642	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr9:136249642G>A	ENST00000371957.3	+	3	284	c.177G>A	c.(175-177)gtG>gtA	p.V59V	C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000426926.2_Silent_p.V59V|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	59	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCTTGCAGGTGGAATGCATGG	0.493000													29	49					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56090809	56090809	+	Silent	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr12:56090809C>T	ENST00000257880.7	-	13	1962	c.1743G>A	c.(1741-1743)cgG>cgA	p.R581R	ITGA7_ENST00000553804.1_Silent_p.R541R|ITGA7_ENST00000555728.1_Silent_p.R581R|ITGA7_ENST00000257879.6_Silent_p.R537R|ITGA7_ENST00000394229.2_Silent_p.R537R|ITGA7_ENST00000394230.2_Silent_p.R541R|ITGA7_ENST00000452168.2_Silent_p.R444R|ITGA7_ENST00000347027.6_Silent_p.R531R			Q13683	ITA7_HUMAN	integrin, alpha 7	581					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAACCTGGCCCCGGAGCCTCC	0.622000													5	8					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153215763	153215763	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:153215763T>C	ENST00000310441.7	-	24	6901	c.5935A>G	c.(5935-5937)Atc>Gtc	p.I1979V	HCFC1_ENST00000369984.4_Missense_Mutation_p.I2024V|HCFC1_ENST00000354233.3_Missense_Mutation_p.I1910V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1979					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAAGATGATGGCGGGCTTG	0.642000													10	48					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262851	167262851	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:167262851C>G	ENST00000409855.1	-	25	4414	c.4288G>C	c.(4288-4290)Gtt>Ctt	p.V1430L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1430					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AATATTGCAACTTGAAAAAGA	0.353000													35	68					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	11					0	0	1	0	0
GYPC	2995	broad.mit.edu	37	2	127453521	127453521	+	Splice_Site	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:127453521G>T	ENST00000259254.4	+	4	521		c.e4-1		GYPC_ENST00000356887.7_Splice_Site|GYPC_ENST00000409836.3_Splice_Site|GYPC_ENST00000464053.1_Splice_Site	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)							cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCCACCTGCAGGTGTGATTGC	0.587000													26	73					3.08376e-08	3.90289e-08	1	1	0
STK33	65975	broad.mit.edu	37	11	8486361	8486361	+	Silent	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:8486361A>G	ENST00000447869.1	-	3	1266	c.348T>C	c.(346-348)taT>taC	p.Y116Y	STK33_ENST00000396672.1_Silent_p.Y116Y|STK33_ENST00000315204.1_Silent_p.Y116Y|STK33_ENST00000396673.1_Silent_p.Y116Y|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000534493.1_Silent_p.Y75Y			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	116	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTCCAAAGGTATAGATTTCCT	0.358000													4	30					0	0	1	0	0
MCTS1	28985	broad.mit.edu	37	X	119746108	119746108	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:119746108A>C	ENST00000371315.3	+	6	1071	c.538A>C	c.(538-540)Aca>Cca	p.T180P	RP4-655L22.2_ENST00000424799.1_RNA|MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371317.5_Missense_Mutation_p.T179P	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	179					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						GCATATGAAGACATATAAATG	0.363000													15	76					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15319131	15319131	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:15319131T>C	ENST00000281513.5	-	51	6846	c.6821A>G	c.(6820-6822)cAa>cGa	p.Q2274R	NBAS_ENST00000441750.1_Missense_Mutation_p.Q2154R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2274										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCCGTGATTTGCTCCAGTGC	0.433000													14	30					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745007	23745007	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:23745007C>T	ENST00000357460.5	-	2	1594	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	HOMEZ_ENST00000561013.1_Missense_Mutation_p.R479Q|HOMEZ_ENST00000431326.2_Missense_Mutation_p.R479Q	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	477						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATCAGTTTCCCGTAGCTGTTG	0.552000													3	28					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45826563	45826563	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr21:45826563C>G	ENST00000397928.1	+	19	3322	c.2877C>G	c.(2875-2877)aaC>aaG	p.N959K	TRPM2_ENST00000397932.2_Missense_Mutation_p.N959K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.N959K|TRPM2_ENST00000300481.9_Missense_Mutation_p.N939K	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	959						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCATCCACAACGAGCGCCGGG	0.627000													4	12					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119026322	119026322	+	Splice_Site	SNP	G	G	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr10:119026322G>C	ENST00000298472.5	+	11	1213	c.1070_splice	c.e11+1	p.R357_splice	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	357					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAAATGGGGAGGTAAGATGAT	0.338000													10	76					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26960635	26960635	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr17:26960635G>T	ENST00000528896.2	-	18	3471	c.3397C>A	c.(3397-3399)Cgt>Agt	p.R1133S	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R990S|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R990S	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1133						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACAGAAGACGGCTCTTGTCC	0.557000													5	23					0.000602214	0.000647514	1	1	0
TSIX	9383	broad.mit.edu	37	X	73049017	73049017	+	RNA	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:73049017G>A	ENST00000604411.1	+	0	36978				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCAGCTCTCTGCACTGCTTGT	0.408000													9	20					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27624465	27624465	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:27624465G>A	ENST00000319394.3	+	12	1630	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	WDTC1_ENST00000361771.3_Silent_p.V364V	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	365							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TGGAGCGTGTGAAACAGCAAG	0.552000													10	34					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153589731	153589731	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:153589731G>T	ENST00000422373.1	-	21	3400	c.3152C>A	c.(3151-3153)cCc>cAc	p.P1051H	FLNA_ENST00000369850.3_Missense_Mutation_p.P1051H|FLNA_ENST00000344736.4_Missense_Mutation_p.P1051H|FLNA_ENST00000360319.4_Missense_Mutation_p.P1051H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1051					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCAGGCACGGGCACGCCGTC	0.632000													16	40					2.32078e-09	2.99974e-09	1	1	0
PRKAG2	51422	broad.mit.edu	37	7	151478345	151478345	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:151478345C>G	ENST00000287878.4	-	3	863	c.359G>C	c.(358-360)cGc>cCc	p.R120P	PRKAG2_ENST00000392801.2_Missense_Mutation_p.R76P|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	120					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GAAGCTCATGCGTCGAGGGGA	0.632000													21	48					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159038400	159038400	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:159038400G>A	ENST00000368130.4	-	3	642	c.354C>T	c.(352-354)gtC>gtT	p.V118V	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	118					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GTTGCTTTGCGACATCATTTC	0.433000													9	73					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20699568	20699568	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:20699568C>T	ENST00000298925.5	+	3	383	c.230C>T	c.(229-231)tCt>tTt	p.S77F	NELL1_ENST00000532434.1_Missense_Mutation_p.S49F|NELL1_ENST00000357134.5_Missense_Mutation_p.S49F|NELL1_ENST00000325319.5_Missense_Mutation_p.S49F			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	49					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCTCAGGTGTCTGGAATGCAC	0.522000													19	52					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482310	140482310	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:140482310G>T	ENST00000231130.2	+	1	2077	c.2077G>T	c.(2077-2079)Gca>Tca	p.A693S		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		693					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTGGTGGCATTGGCCTC	0.682000													6	118					0.00198382	0.00206896	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3241885	3241885	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:3241885G>T	ENST00000217939.6	-	5	1995	c.1841C>A	c.(1840-1842)cCa>cAa	p.P614Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	614	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTTCTGTTTGGAAGAATCCA	0.448000													4	27					0.00024832	0.000275533	1	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106810513	106810513	+	Silent	SNP	G	G	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr11:106810513G>A	ENST00000526355.1	-	4	1347	c.879C>T	c.(877-879)atC>atT	p.I293I	GUCY1A2_ENST00000347596.2_Silent_p.I293I|GUCY1A2_ENST00000282249.2_Silent_p.I293I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	293					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CACATTCTTTGATAAGGAAAG	0.433000													11	44					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128630045	128630045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:128630045C>A	ENST00000393245.1	-	11	1943	c.1570G>T	c.(1570-1572)Gaa>Taa	p.E524*	TNPO3_ENST00000471234.1_Nonsense_Mutation_p.E490*|TNPO3_ENST00000471166.1_Nonsense_Mutation_p.E524*|TNPO3_ENST00000482320.1_Nonsense_Mutation_p.E424*|TNPO3_ENST00000265388.5_Nonsense_Mutation_p.E490*	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	490					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCAACGACTTCACTCATCTCT	0.453000													10	56					0.000978159	0.00104251	1	1	0
RYR2	6262	broad.mit.edu	37	1	237947751	237947751	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:237947751G>T	ENST00000366574.2	+	90	13056	c.12739G>T	c.(12739-12741)Gcg>Tcg	p.A4247S	RYR2_ENST00000360064.6_Missense_Mutation_p.A4253S|RYR2_ENST00000542537.1_Missense_Mutation_p.A4231S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4247					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCCCTGTTTGCGCTCAGGTA	0.502000													6	18					0.0215528	0.0220056	1	1	0
ABCG1	9619	broad.mit.edu	37	21	43645931	43645931	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr21:43645931C>T	ENST00000398457.2	+	3	459	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	ABCG1_ENST00000343687.3_Missense_Mutation_p.R76C|ABCG1_ENST00000347800.2_Missense_Mutation_p.R62C|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.R65C|ABCG1_ENST00000361802.2_Missense_Mutation_p.R65C	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	65					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGAAGCCCAGCGCTTCTCCTC	0.532000													14	65					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86479160	86479160	+	Nonsense_Mutation	SNP	G	G	A	rs121918263		TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:86479160G>A	ENST00000165698.5	-	5	480	c.337C>T	c.(337-339)Cga>Tga	p.R113*	REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Nonsense_Mutation_p.R86*|REEP1_ENST00000541910.1_Intron|REEP1_ENST00000540790.1_Nonsense_Mutation_p.R92*|REEP1_ENST00000538924.1_Nonsense_Mutation_p.R120*	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	113					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCGTAACTTCGGTCTTTTGCT	0.507000													8	118					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260934	30260934	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:30260934G>T	ENST00000378982.2	+	1	878	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	228	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GAATATGCTGGGGATCTATGA	0.478000													11	54					1.58986e-06	1.91256e-06	1	1	0
EIF5A2	56648	broad.mit.edu	37	3	170624864	170624864	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr3:170624864C>G	ENST00000295822.2	-	3	369	c.184G>C	c.(184-186)Gat>Cat	p.D62H	EIF5A2_ENST00000460117.1_Intron|EIF5A2_ENST00000474096.1_Missense_Mutation_p.D62H|EIF5A2_ENST00000487522.1_Missense_Mutation_p.D62H	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	62					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			GTGAAAATATCAATTCCAACA	0.353000													3	20					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429144	23429144	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr8:23429144C>A	ENST00000519973.1	+	4	991	c.793C>A	c.(793-795)Cag>Aag	p.Q265K		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	265					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		TCTGAACACTCAGGAGAACGT	0.672000													4	21					2.56e-06	3.06443e-06	1	1	0
MYO3B	140469	broad.mit.edu	37	2	171399460	171399460	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:171399460C>T	ENST00000334231.6	+	31	3647	c.3647C>T	c.(3646-3648)gCa>gTa	p.A1216V	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A1207V|MYO3B_ENST00000409044.3_Missense_Mutation_p.A1180V			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1207					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GATATCTTCGCAGGACATGCA	0.368000													21	51					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618660	52618660	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr19:52618660T>C	ENST00000600228.1	-	4	2018	c.1757A>G	c.(1756-1758)tAc>tGc	p.Y586C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATACTGACTGTAGACCTTGCC	0.433000													14	32					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111599	142111599	+	RNA	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:142111599G>T	ENST00000390378.1	-	0	136																											GGTGTGCCCAGAGATAGGAGA	0.532000													34	65					6.00712e-18	8.38926e-18	1	1	0
MTA1	9112	broad.mit.edu	37	14	105927155	105927155	+	Silent	SNP	C	C	A			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr14:105927155C>A	ENST00000331320.7	+	10	1021	c.807C>A	c.(805-807)atC>atA	p.I269I	MTA1_ENST00000406191.1_Silent_p.I269I|MTA1_ENST00000405646.1_Silent_p.I252I	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	269	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCAAGGCCATCTCGGCGCTGG	0.602000													3	27					1	1	1	1	0
WDR70	55100	broad.mit.edu	37	5	37392197	37392197	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:37392197A>G	ENST00000265107.4	+	4	427	c.271A>G	c.(271-273)Aga>Gga	p.R91G	WDR70_ENST00000504564.1_Missense_Mutation_p.R91G	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	91	Ser-rich.									central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATGTGGTCAGAGATTGCTC	0.323000													7	71					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114580	186114580	+	Missense_Mutation	SNP	G	G	T	rs141397809		TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:186114580G>T	ENST00000271588.4	+	92	14541	c.14312G>T	c.(14311-14313)cGg>cTg	p.R4771L	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4771L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4771	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACATGCAGCCGGACGTGTAAC	0.552000													23	53					0.00047179	0.000511808	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3081337	3081337	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr8:3081337G>T	ENST00000520002.1	-	29	4956	c.4401C>A	c.(4399-4401)aaC>aaA	p.N1467K	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000539096.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000602723.1_Missense_Mutation_p.N1467K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N1467K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N1467K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1467	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTGGGTAGTTGGGTGACA	0.483000													7	25					5.4927e-09	7.06205e-09	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49083420	49083420	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:49083420C>T	ENST00000376265.2	-	9	1349	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	CACNA1F_ENST00000323022.5_Intron|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E365K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	430					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CGGCCCTCTTCAGCCATAGAA	0.607000													4	22					0	0	1	0	0
SPARC	6678	broad.mit.edu	37	5	151051184	151051184	+	Missense_Mutation	SNP	C	C	T	rs142207246		TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr5:151051184C>T	ENST00000231061.4	-	5	593	c.280G>A	c.(280-282)Gtg>Atg	p.V94M		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	94	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TCCTGGCACACGCACATGGGG	0.597000													23	74					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226574	158226574	+	Splice_Site	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:158226574A>T	ENST00000289429.5	+	4	1137		c.e4-1			NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule						antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGTCCTTTGCAGTGAAGCCCG	0.483000													14	65					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265540	198265540	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:198265540C>G	ENST00000335508.5	-	18	2708	c.2617G>C	c.(2617-2619)Gag>Cag	p.E873Q		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	873					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATAATTTTCTCAATTGTCTCC	0.373000			Mis		myelodysplastic syndrome								8	43					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304321	28304321	+	Splice_Site	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr21:28304321A>T	ENST00000284987.5	-	6	2171		c.e6+1		AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5						proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GTGTGTAGTTACCTTTGGAGA	0.493000													18	22					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57170052	57170052	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:57170052A>T	ENST00000371244.4	+	7	1263	c.1197A>T	c.(1195-1197)aaA>aaT	p.K399N		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	399					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CTGTGAAAAAAGCCAAGTGGC	0.448000													29	32					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546631	11546631	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr12:11546631G>T	ENST00000389362.4	-	3	416	c.381C>A	c.(379-381)aaC>aaA	p.N127K	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGAGGCTGGTTGCCTCCTT	0.602000													14	331					1.15088e-07	1.44903e-07	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8436684	8436684	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr9:8436684C>G	ENST00000381196.4	-	32	4537	c.3994G>C	c.(3994-3996)Gct>Cct	p.A1332P	PTPRD_ENST00000355233.5_Missense_Mutation_p.A926P|PTPRD_ENST00000397606.3_Missense_Mutation_p.A925P|PTPRD_ENST00000397611.3_Missense_Mutation_p.A922P|PTPRD_ENST00000397617.3_Missense_Mutation_p.A925P|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1332P|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1319P|PTPRD_ENST00000537002.1_Missense_Mutation_p.A922P|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1310P|PTPRD_ENST00000486161.1_Missense_Mutation_p.A925P|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1332P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1332					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGATGGCTAGCCATACCTATT	0.343000										TSP Lung(15;0.13)			13	27					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518313	113518313	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:113518313G>T	ENST00000284601.3	-	4	2902	c.2834C>A	c.(2833-2835)cCt>cAt	p.P945H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	945					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CGTAGAAATAGGTTGGCTAGC	0.378000													22	50					1.10513e-12	1.48369e-12	1	1	0
PAQR6	79957	broad.mit.edu	37	1	156213983	156213983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr1:156213983delG	ENST00000335852.1	-	7	1340	c.725delC	c.(724-726)cafs	p.P242fs	PAQR6_ENST00000356983.2_Frame_Shift_Del_p.P242fs|PAQR6_ENST00000368270.1_Frame_Shift_Del_p.P300fs|PAQR6_ENST00000292291.5_Frame_Shift_Del_p.P324fs|PAQR6_ENST00000540423.1_Frame_Shift_Del_p.P321fs|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000360733.2_Frame_Shift_Del_p.P242fs	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	95				HLP -> QTD (in Ref. 1; AAP97703).		integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GGCATGTACTGGGGGCCCGAA	0.647													7	66	---	---	---	---					
EXOC6B	23233	broad.mit.edu	37	2	72960228	72960228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr2:72960228delT	ENST00000272427.6	-	3	429	c.299delA	c.(298-300)atfs	p.N100fs	EXOC6B_ENST00000410104.1_Frame_Shift_Del_p.N100fs	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	100					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TAGTTTTCTATTAGTATCCGT	0.294													2	4	---	---	---	---					
BCHE	590	broad.mit.edu	37	3	165547504	165547505	+	Frame_Shift_Ins	INS	-	-	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr3:165547504_165547505insT	ENST00000264381.3	-	2	1483_1484	c.1317_1318insA	c.(1315-1320)gaggggfs	p.EG439fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	439					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTATTTCCCCATTCTGAGAACT	0.431													19	53	---	---	---	---					
SMAD1	4086	broad.mit.edu	37	4	146461025	146461026	+	Frame_Shift_Ins	INS	-	-	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr4:146461025_146461026insT	ENST00000515385.1	+	3	1012_1013	c.470_471insT	c.(469-471)caafs	p.Q157fs	SMAD1_ENST00000394092.2_Frame_Shift_Ins_p.Q157fs|SMAD1_ENST00000302085.4_Frame_Shift_Ins_p.Q157fs			Q15797	SMAD1_HUMAN	SMAD family member 1	157					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GCTCAGTTCCGTAACTTAGGAC	0.475													29	33	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757																											TCTTCATCCCTCACCCCCCCCC	0.460													4	3	---	---	---	---					
FAM131B	9715	broad.mit.edu	37	7	143053924	143053925	+	Frame_Shift_Ins	INS	-	-	T			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr7:143053924_143053925insT	ENST00000409408.1	-	6	2425_2426	c.717_718insA	c.(715-720)cacagcfs	p.HS239fs	FAM131B_ENST00000409222.3_Frame_Shift_Ins_p.HS239fs|FAM131B_ENST00000443739.2_Frame_Shift_Ins_p.HS267fs|FAM131B_ENST00000409346.1_Frame_Shift_Ins_p.HS239fs|FAM131B_ENST00000409578.1_Frame_Shift_Ins_p.HS255fs			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	239										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCTGAAGCTGGTTGGGAAGGTC	0.604													37	74	---	---	---	---					
ACADS	35	broad.mit.edu	37	12	121164945	121164945	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr12:121164945delC	ENST00000242592.4	+	2	314	c.163delC	c.(163-165)ccfs	p.P55fs	ACADS_ENST00000411593.2_Frame_Shift_Del_p.P55fs	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	55						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GGAGTTGTTTCCCATTGCAGC	0.567													24	121	---	---	---	---					
PCDH17	27253	broad.mit.edu	37	13	58298986	58298986	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr13:58298986delC	ENST00000377918.3	+	4	3064	c.3038delC	c.(3037-3039)gcfs	p.A1013fs		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1013					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATTCTCATTGCCAACGTTAAA	0.473													19	40	---	---	---	---					
DCAF7	10238	broad.mit.edu	37	17	61660979	61660980	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr17:61660979_61660980delTT	ENST00000310827.4	+	6	861_862	c.644_645delTT	c.(643-645)afs	p.I215fs	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	215					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						AGCACCATCATTTACGAAGACC	0.584													18	42	---	---	---	---					
LIF	3976	broad.mit.edu	37	22	30639793	30639793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chr22:30639793delC	ENST00000249075.3	-	3	611	c.456delG	c.(454-456)ctfs	p.L152fs	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	152					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			ACAGGCGGCACAGCACGTTGC	0.617													7	51	---	---	---	---					
FOXP3	50943	broad.mit.edu	37	X	49113260	49113260	+	Frame_Shift_Del	DEL	A	A	-			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:49113260delA	ENST00000376207.4	-	6	782	c.595delT	c.(595-597)gcfs	p.C199fs	FOXP3_ENST00000376197.1_Frame_Shift_Del_p.C149fs|FOXP3_ENST00000518685.1_Frame_Shift_Del_p.C164fs|FOXP3_ENST00000557224.1_Frame_Shift_Del_p.C164fs|FOXP3_ENST00000455775.2_Frame_Shift_Del_p.C199fs|FOXP3_ENST00000376199.2_Frame_Shift_Del_p.C164fs	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	199					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GGCCACTTGCAGACACCATTT	0.632													8	53	---	---	---	---					
ENOX2	10495	broad.mit.edu	37	X	129765463	129765463	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46R-01A-11D-A24D-08	TCGA-62-A46R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d5881b8-f387-4659-95ea-44f752878f39	6f44a3d0-7e71-4879-b098-2eb3cb44d189	g.chrX:129765463delC	ENST00000338144.3	-	14	2011	c.1594delG	c.(1594-1596)aafs	p.E532fs	ENOX2_ENST00000394363.1_Frame_Shift_Del_p.E503fs|ENOX2_ENST00000370935.1_Frame_Shift_Del_p.E503fs|ENOX2_ENST00000370927.1_Frame_Shift_Del_p.E532fs	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	532					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCTTCACGTTCAGATTTGATA	0.478													19	86	---	---	---	---					
