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
LRP2	4036	broad.mit.edu	37	2	170068686	170068686	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:170068686G>T	ENST00000263816.3	-	37	6357	c.6072C>A	c.(6070-6072)aaC>aaA	p.N2024K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2024	EGF-like 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATTCATGTTGTTGCTACAGC	0.443000													4	66					2.56e-06	3.10303e-06	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110418625	110418625	+	Silent	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110418625T>A	ENST00000378402.5	+	17	1835	c.1731T>A	c.(1729-1731)tcT>tcA	p.S577S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	577					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCTCTGGTCTATAAAACCGG	0.363000										HNSCC(38;0.096)			3	5					0	0	1	0	0
THAP9-AS1	0	broad.mit.edu	37	4	83821890	83821890	+	RNA	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:83821890A>G	ENST00000504520.2	-	0	223					NR_034076.1																						CAACGGGCGGAGCTAAAGTGG	0.607000													13	30					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654342	61654342	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61654342G>A	ENST00000397985.2	+	7	1211	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.V137M|SERPINB8_ENST00000353706.2_Missense_Mutation_p.V319M	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	319					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAGTGCTTCGTGGAGGTCAA	0.527000													7	34					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21218255	21218255	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:21218255G>A	ENST00000574002.1	-	6	869	c.387C>T	c.(385-387)caC>caT	p.H129H	ZP2_ENST00000219593.4_Silent_p.H129H|ZP2_ENST00000574091.1_Silent_p.H129H			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	129					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGACAGCTCCGTGTCTTAAGG	0.478000													49	79					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78163125	78163125	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:78163125C>A	ENST00000370793.1	-	25	3052	c.2706G>T	c.(2704-2706)tgG>tgT	p.W902C	USP33_ENST00000357428.1_Missense_Mutation_p.W902C|USP33_ENST00000370794.3_Missense_Mutation_p.W871C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	902	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GCAGAAAATTCCATGTTTCTT	0.363000													6	114					0.00116845	0.00127467	1	1	0
OR51B5	282763	broad.mit.edu	37	11	5364717	5364717	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:5364717G>A	ENST00000300773.2	-	1	92	c.38C>T	c.(37-39)aCt>aTt	p.T13I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAAACCAGTCAATAGGAA	0.443000													6	21					0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24175224	24175224	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:24175224C>A	ENST00000374479.3	-	6	1082	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	359					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGCCATTTCCCAACAGCAAGA	0.463000													4	64					0.150653	0.155848	1	1	0
GTF2IRD1P1	0	broad.mit.edu	37	7	66304534	66304534	+	RNA	SNP	C	C	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr7:66304534C>G	ENST00000457166.1	-	0	271					NR_003934.1																						TACCTGTCAGCATCTCCATCC	0.547000													4	27					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133198389	133198389	+	Silent	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:133198389C>A	ENST00000388996.4	-	2	846	c.426G>T	c.(424-426)ctG>ctT	p.L142L	KCNQ3_ENST00000519445.1_Silent_p.L142L|KCNQ3_ENST00000521134.1_Silent_p.L22L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	142					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAATGTGGTCAGGACAGCCA	0.483000													6	31					3.59834e-05	4.15193e-05	1	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3139706	3139706	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139706G>C	ENST00000252463.2	-	5	1651	c.1564C>G	c.(1564-1566)Ccc>Gcc	p.P522A	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P440A|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.P183A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	522					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGCGTAGGGCTTCTCGCCC	0.716000													4	11					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138290122	138290122	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:138290122C>T	ENST00000264982.3	-	4	412	c.146G>A	c.(145-147)aGa>aAa	p.R49K	CEP70_ENST00000464035.1_Missense_Mutation_p.R49K|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Missense_Mutation_p.R29K|CEP70_ENST00000481834.1_Missense_Mutation_p.R49K|CEP70_ENST00000484888.1_Missense_Mutation_p.R49K|CEP70_ENST00000489254.1_Intron	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	49					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GAGATCTGTTCTTTTGACTAG	0.303000													6	22					0	0	1	0	0
C2orf70	339778	broad.mit.edu	37	2	26798818	26798818	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:26798818C>T	ENST00000409392.1	+	3	187	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	C2orf70_ENST00000329615.3_Silent_p.Y41Y			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	147										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GCGCTCCCTACGGCACCACCA	0.627000													16	48					0	0	1	0	0
SSX9	0	broad.mit.edu	37	X	48164248	48164248	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:48164248C>A	ENST00000376909.1	-	2	97	c.35G>T	c.(34-36)aGg>aTg	p.R12M	SSX9_ENST00000407081.2_Missense_Mutation_p.R12M																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						AGAACCAGCCCTAGGTCTCCT	0.562000													10	285					3.07112e-06	3.68534e-06	1	1	0
PLEKHM2	23207	broad.mit.edu	37	1	16060354	16060354	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:16060354G>A	ENST00000375799.3	+	20	3212	c.2985G>A	c.(2983-2985)ttG>ttA	p.L995L	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Silent_p.L975L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	995					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGATGCCTTGAGCCTCATCC	0.642000													39	53					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18963850	18963850	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:18963850G>A	ENST00000262803.5	+	7	1299	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	UPF1_ENST00000599848.1_Missense_Mutation_p.A343T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	343	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GAAGAGAATCGCCTACTTCAC	0.423000													14	93					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33625772	33625772	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:33625772G>A	ENST00000374316.5	+	5	1406	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V116M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	116	MIR 1.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGGGGATGTCGTGAAGTATGG	0.607000													6	28					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33955020	33955020	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:33955020G>A	ENST00000389232.4	+	35	5359	c.5289G>A	c.(5287-5289)gaG>gaA	p.E1763E	RYR3_ENST00000415757.3_Silent_p.E1763E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1763	4 X approximate repeats.				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)		CGGGGACAGAGGAGGGAGCAG	0.572000													35	96					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96018841	96018841	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:96018841G>A	ENST00000260766.3	+	13	4382	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K	PLCE1_ENST00000371385.3_Missense_Mutation_p.E942K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E1250K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E942K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1250					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.E942*(1)|p.E1250*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTGGCTCCGAGTCAGCCCC	0.483000													21	77					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14177320	14177320	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:14177320C>T	ENST00000306077.4	+	10	1048	c.794C>T	c.(793-795)gCc>gTc	p.A265V		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	265						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						ACTGTGATTGCCCGGCAGCGG	0.632000													4	82					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17739569	17739569	+	Silent	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:17739569C>A	ENST00000380060.3	+	4	1199	c.861C>A	c.(859-861)ccC>ccA	p.P287P	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P131P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	287						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGTCCCATCCCCCAGAGGATG	0.423000													7	48					0.00198382	0.00212552	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55699488	55699488	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:55699488C>A	ENST00000376350.3	-	13	2455	c.2433G>T	c.(2431-2433)aaG>aaT	p.K811N	PTPRH_ENST00000263434.5_Missense_Mutation_p.K633N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	811					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCTCATTCTTCCTGACGT	0.572000													9	87					1.58986e-06	1.94677e-06	1	1	0
MMEL1	79258	broad.mit.edu	37	1	2527503	2527503	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:2527503G>A	ENST00000288709.6	-	15	1658	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	MMEL1_ENST00000378412.3_Missense_Mutation_p.T482M|MMEL1_ENST00000502556.1_Missense_Mutation_p.T325M	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	482					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTCGTCCAGCGTCTCCACAAA	0.607000													5	200					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77917578	77917578	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr14:77917578G>T	ENST00000553888.1	-	4	805	c.295C>A	c.(295-297)Caa>Aaa	p.Q99K	VIPAS39_ENST00000556412.1_Missense_Mutation_p.Q125K|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000327028.4_Missense_Mutation_p.Q99K|VIPAS39_ENST00000557658.1_Missense_Mutation_p.Q99K|VIPAS39_ENST00000343765.2_Missense_Mutation_p.Q99K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		TTGGGTAGTTGTGCATAGGAG	0.473000													4	141					0.00024832	0.00027338	1	1	0
CHP2	63928	broad.mit.edu	37	16	23768869	23768869	+	Missense_Mutation	SNP	G	G	T	rs149498782	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:23768869G>T	ENST00000300113.2	+	7	979	c.556G>T	c.(556-558)Gtt>Ttt	p.V186F		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	186	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GAAGATGGACGTTGAGCAAAA	0.522000													33	163					9.8876e-21	1.28969e-20	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7521536	7521536	+	Silent	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:7521536G>T	ENST00000313599.3	-	16	4122	c.4065C>A	c.(4063-4065)gcC>gcA	p.A1355A	CD163L1_ENST00000396630.1_Silent_p.A1355A|CD163L1_ENST00000416109.2_Silent_p.A1365A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1355						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TACCTGAGGAGGCATTCAGTG	0.443000													5	169					0.217242	0.219068	1	1	0
MTMR8	55613	broad.mit.edu	37	X	63444340	63444340	+	Missense_Mutation	SNP	G	G	A	rs148589525	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:63444340G>A	ENST00000453546.1	-	11	2046	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	ASB12_ENST00000362002.2_Missense_Mutation_p.R278W|ASB12_ENST00000396130.2_Missense_Mutation_p.R269W			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGAAGTGACCGTGGAGTGGCT	0.522000													18	23					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127434378	127434378	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:127434378A>G	ENST00000337623.3	+	18	2696	c.2591A>G	c.(2590-2592)aAt>aGt	p.N864S	RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.N898S|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATGCCACCAATGCCGCCCTT	0.453000													9	54					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38934858	38934858	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:38934858G>A	ENST00000487273.2	+	16	1887	c.1809G>A	c.(1807-1809)gtG>gtA	p.V603V	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	603	Cys-rich.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTTGGGGTGTGGATTTCCAGC	0.413000													16	53					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138710933	138710933	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:138710933C>G	ENST00000389532.4	-	12	3946	c.3882G>C	c.(3880-3882)caG>caC	p.Q1294H	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.Q1016H|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.Q1305H|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1294						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTTGCGCTGCTGCTTCAGGA	0.647000													7	16					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109787072	109787072	+	Silent	SNP	A	A	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:109787072A>T	ENST00000230122.3	-	7	2243	c.2076T>A	c.(2074-2076)ctT>ctA	p.L692L	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GCTCCTGGCCAAGTGGCGTTG	0.537000													35	38					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													4	118					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24270074	24270074	+	Translation_Start_Site	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:24270074G>A	ENST00000357002.4	+	0	80				ZNF254_ENST00000339642.6_De_novo_Start_OutOfFrame|ZNF254_ENST00000342944.6_Intron	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254						negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCTCTGTGGCGCTGTTACCAG	0.592000													19	55					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204013825	204013825	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:204013825G>C	ENST00000449802.1	+	33	5662	c.5329G>C	c.(5329-5331)Gca>Cca	p.A1777P		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1777							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACGCTGGAAAGCAATACAGCT	0.388000													7	29					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40369407	40369407	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:40369407G>A	ENST00000293328.3	-	10	1413	c.1245C>T	c.(1243-1245)caC>caT	p.H415H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	415					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TATTCCTGAAGTGGGCACTAA	0.458000													14	56					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508105	37508105	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508105A>T	ENST00000374660.1	+	40	3753	c.3654A>T	c.(3652-3654)gaA>gaT	p.E1218D	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1099D|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1099D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAAGAGGAATCATTAACTA	0.338000													34	173					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								10	35					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9243855	9243855	+	Missense_Mutation	SNP	C	C	G	rs117138141	by1000genomes	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:9243855C>G	ENST00000318602.7	-	19	2718	c.2411G>C	c.(2410-2412)cGt>cCt	p.R804P		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	804					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGCCTCTCCACGAATCACAGA	0.493000													97	159					0	0	1	0	0
FAM57A	79850	broad.mit.edu	37	17	641276	641276	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:641276C>T	ENST00000308278.8	+	3	633	c.397C>T	c.(397-399)Cca>Tca	p.P133S	FAM57A_ENST00000301324.8_Missense_Mutation_p.P133S|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	133	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTCCTTGTGCCAGTCGCACA	0.517000													4	79					0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097469	202097469	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:202097469A>G	ENST00000367282.4	+	2	1337	c.1231A>G	c.(1231-1233)Atc>Gtc	p.I411V		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	411						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CAAGGGCGCCATCACCCCAGT	0.647000													31	41					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837337	12837337	+	Silent	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:12837337C>A	ENST00000357726.4	+	3	1074	c.1047C>A	c.(1045-1047)acC>acA	p.T349T		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	349										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGGCCACCCTGCAGACCC	0.597000													10	89					0.0581538	0.0606822	1	1	0
IL7R	3575	broad.mit.edu	37	5	35871310	35871310	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:35871310T>C	ENST00000303115.3	+	4	661	c.532T>C	c.(532-534)Tgg>Cgg	p.W178R	IL7R_ENST00000506850.1_Missense_Mutation_p.W178R|IL7R_ENST00000343305.4_Missense_Mutation_p.W178R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	178	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGAAAACAAATGGACGGTATG	0.358000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						8	9					0	0	1	0	0
SS18L1	26039	broad.mit.edu	37	20	60736516	60736516	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr20:60736516G>A	ENST00000331758.3	+	4	282	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	SS18L1_ENST00000370848.4_Missense_Mutation_p.G89S|SS18L1_ENST00000421564.1_Missense_Mutation_p.G86S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	86	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CATGAACCTGGGCCCTGGAGC	0.627000			T	SSX1	synovial sarcoma								18	63					0	0	1	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47325287	47325287	+	RNA	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:47325287T>C	ENST00000505841.1	-	0	1204					NR_002788.2																						AATCCAAACATAGCTGCATTG	0.388000													3	26					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667535	72667535	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:72667535C>A	ENST00000373514.2	+	1	446	c.446C>A	c.(445-447)cCc>cAc	p.P149H		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	149						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCCAGTTCCCCCAGCAGGAGC	0.647000													7	47					0.00198382	0.00212552	1	1	0
CALR3	125972	broad.mit.edu	37	19	16594777	16594777	+	Silent	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:16594777C>T	ENST00000269881.3	-	5	704	c.642G>A	c.(640-642)tcG>tcA	p.S214S	CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	214	4 X approximate repeats.|P-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CCCAATCCTTCGATTCTGCCG	0.423000													7	31					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4543495	4543495	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:4543495G>A	ENST00000228837.2	-	3	556	c.513C>T	c.(511-513)taC>taT	p.Y171Y		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	171					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGTCTGACTCGTAGGCATTGT	0.517000													34	407					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412112	51412112	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:51412112C>A	ENST00000319760.6	-	1	336	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGGCCCATGCAACCTTGGAA	0.453000													12	56					9.31168e-06	1.10634e-05	1	1	0
DNAJA2	10294	broad.mit.edu	37	16	47001550	47001550	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:47001550C>T	ENST00000317089.5	-	5	667	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	151					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TCCAGACTTTCCGCCTTGGCT	0.463000													32	113					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176938907	176938907	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:176938907C>T	ENST00000507955.1	-	17	2277	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	585					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CAGGCCCCCGCAGAAGGCACA	0.642000													13	29					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081657	1081657	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:1081657G>A	ENST00000441003.2	+	13	1612	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	MUC2_ENST00000359061.5_Missense_Mutation_p.G529R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	529	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCCTCTGCGGGAACTTCAA	0.667000													3	18					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													5	26					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47143009	47143009	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:47143009T>G	ENST00000409792.3	-	8	4996	c.4954A>C	c.(4954-4956)Acc>Ccc	p.T1652P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1652	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTGGTGGTAAAAAACCCA	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								42	142					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1715303	1715303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:1715303C>A	ENST00000305513.7	-	3	408	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	81							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TAATCTTTCTCCTGAAATTTT	0.393000													28	132					3.73808e-20	4.82333e-20	1	1	0
YTHDC2	64848	broad.mit.edu	37	5	112868625	112868625	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112868625G>A	ENST00000161863.4	+	5	938	c.725G>A	c.(724-726)cGt>cAt	p.R242H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.R242H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	242	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATCCCCTGCCGTATATTTTGT	0.388000													5	43					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643881	39643881	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39643881C>T	ENST00000393986.2	-	5	870	c.658G>A	c.(658-660)Gag>Aag	p.E220K	KRT36_ENST00000328119.6_Missense_Mutation_p.E270K			O76013	KRT36_HUMAN	keratin 36	270	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACCAGGGCCTCGTACTGGCAT	0.602000													34	105					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054364	29054364	+	Silent	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:29054364T>C	ENST00000257189.4	+	15	2465	c.2382T>C	c.(2380-2382)tcT>tcC	p.S794S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	794					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S794S(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTACTTTTCTCAGGTAATTT	0.368000													51	46					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498956	110498956	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110498956A>T	ENST00000378402.5	+	59	9890	c.9786A>T	c.(9784-9786)aaA>aaT	p.K3262N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3262					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAACATCAAAATAGTTGGTG	0.448000										HNSCC(38;0.096)			14	153					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487398	63487398	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:63487398A>G	ENST00000377819.5	+	3	1578	c.1424A>G	c.(1423-1425)gAc>gGc	p.D475G	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D456G|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D363G|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	475					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTACCTGATGACCACCTGAAA	0.458000													22	43					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608734	42608734	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:42608734G>A	ENST00000359486.3	-	1	2714	c.2578C>T	c.(2578-2580)Ctc>Ttc	p.L860F	TCF20_ENST00000335626.4_Missense_Mutation_p.L860F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTCAGAGAGGGAACCCCCA	0.478000													24	92					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197029657	197029657	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:197029657G>A	ENST00000367412.1	-	5	687	c.644C>T	c.(643-645)tCt>tTt	p.S215F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	215	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAATCTTAAAGAAGAGCACTT	0.264000													9	16					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139731	3139731	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139731G>C	ENST00000252463.2	-	5	1626	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.H431Q|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.H174Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	513					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCACCCGTTGGTGGCTGACCA	0.711000													3	15					0	0	1	0	0
COL21A1	0	broad.mit.edu	37	6	56006596	56006596	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:56006596C>T	ENST00000244728.5	-	12	1926	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	COL21A1_ENST00000370819.1_Missense_Mutation_p.R507Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R510Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	510					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCACCATCTCGCCCTGGTTC	0.368000													35	30					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948345	119948345	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:119948345G>T	ENST00000307142.4	+	3	1017	c.821G>T	c.(820-822)aGt>aTt	p.S274I	SYNPO2_ENST00000429713.2_Missense_Mutation_p.S274I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S274I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	274						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCCAGGAAAGTGAAGCAGGA	0.522000													8	20					1.06961e-07	1.32323e-07	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50950920	50950920	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:50950920T>C	ENST00000374103.4	-	15	2051	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	OGDHL_ENST00000432695.1_Missense_Mutation_p.I447V|OGDHL_ENST00000419399.1_Missense_Mutation_p.I599V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	656					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCACGTGGATGCCTTCCTTC	0.642000													4	35					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410365	32410365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:32410365C>T	ENST00000395388.2	+	2	332	c.223C>T	c.(223-225)Cga>Tga	p.R75*	HLA-DRA_ENST00000374982.5_Nonsense_Mutation_p.R75*	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	75	Alpha-1.			R -> P (in Ref. 12; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AGAATTTGGACGATTTGCCAG	0.468000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				28	165					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295902	10295902	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:10295902C>T	ENST00000403437.2	-	38	5619	c.5525G>A	c.(5524-5526)gGt>gAt	p.G1842D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1842					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCCGTAAACCTTTAACAGC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	194					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528904	101528904	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:101528904G>A	ENST00000284395.5	+	6	890	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	LRRK1_ENST00000532029.2_Missense_Mutation_p.G167R|LRRK1_ENST00000388948.3_Missense_Mutation_p.G167R			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	167					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGGCACCTGGGGGTTGTGAA	0.622000													20	60					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36259310	36259310	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:36259310G>T	ENST00000396908.4	+	12	1376	c.1303G>T	c.(1303-1305)Gcg>Tcg	p.A435S	C19orf55_ENST00000544099.1_3'UTR	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	436										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGGAAGCGGATGCCCG	0.627000													4	30					1.23904e-05	1.45769e-05	1	1	0
DIAPH2	1730	broad.mit.edu	37	X	96173534	96173534	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:96173534C>A	ENST00000324765.8	+	9	1243	c.896C>A	c.(895-897)aCa>aAa	p.T299K	DIAPH2_ENST00000373049.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.T295K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.T299K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	299	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGGGCTATAACAACAGCAGCA	0.368000													8	44					3.86212e-05	4.41385e-05	1	1	0
MCC	4163	broad.mit.edu	37	5	112406798	112406798	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112406798G>C	ENST00000302475.4	-	10	1911	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	MCC_ENST00000408903.3_Missense_Mutation_p.Q640E|MCC_ENST00000515367.2_Missense_Mutation_p.Q387E|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	450					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TACCTGTACTGCAAGGCCAGC	0.478000													28	58					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123848117	123848117	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:123848117G>T	ENST00000515273.1	+	5	5912	c.5584G>T	c.(5584-5586)Gat>Tat	p.D1862Y	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.D1862Y|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000369005.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000334433.3_Intron			O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1859						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCAGCGAAAGATATTGGTCT	0.443000													4	8					0.00024832	0.00027338	1	1	0
INADL	10207	broad.mit.edu	37	1	62329953	62329953	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:62329953A>G	ENST00000371158.2	+	20	2597	c.2483A>G	c.(2482-2484)gAa>gGa	p.E828G	INADL_ENST00000316485.6_Missense_Mutation_p.E828G	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	828					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTGTGGATGAACCATTTCTA	0.383000													5	51					0	0	1	0	0
IGHV1-18	0	broad.mit.edu	37	14	106641630	106641630	+	RNA	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr14:106641630G>A	ENST00000390605.2	-	0	342																											GGCTGTGCTCGTGGATGTGTC	0.527000													72	128					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111318	7111318	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:7111318C>T	ENST00000306904.5	+	1	1154	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	323	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCGGCGGCCGCGACAGTTA	0.682000													3	33					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270341	84270341	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:84270341C>T	ENST00000568181.1	-	2	871	c.751G>A	c.(751-753)Gac>Aac	p.D251N	KCNG4_ENST00000308251.4_Missense_Mutation_p.D251N			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	251						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CTCACCTGGTCCTCCTCTGCC	0.607000													9	41					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129274525	129274525	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:129274525T>A	ENST00000287295.3	-	7	994	c.764A>T	c.(763-765)aAg>aTg	p.K255M	AIFM1_ENST00000319908.3_Missense_Mutation_p.K251M|AIFM1_ENST00000535724.1_Missense_Mutation_p.K168M|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	255	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						AATCAAGCACTTTTCATAGGT	0.423000													13	75					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													4	80					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36681964	36681964	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:36681964G>A	ENST00000216181.5	-	36	5327	c.5097C>T	c.(5095-5097)gcC>gcT	p.A1699A	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1699					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCTGCTGGGCCTGGCGCT	0.652000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				21	39					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39684190	39684190	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39684190C>T	ENST00000361566.3	-	1	370	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCGCCGTTGGCCGCCTCCAGG	0.657000													4	109					0	0	1	0	0
DDTL	100037417	broad.mit.edu	37	22	24313560	24313560	+	Silent	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:24313560T>C	ENST00000215770.5	+	3	384	c.370T>C	c.(370-372)Ttg>Ctg	p.L124L	DDT_ENST00000398344.4_3'UTR|DDT_ENST00000350608.3_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	124						cytoplasm	lyase activity			kidney(1)|urinary_tract(1)	2						GAAGTCATGTTTGAATGAGGA	0.468000													14	60					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216292953	216292953	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:216292953C>T	ENST00000354785.4	-	6	1163	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	FN1_ENST00000421182.1_Missense_Mutation_p.R265Q|FN1_ENST00000359671.1_Missense_Mutation_p.R265Q|FN1_ENST00000356005.4_Missense_Mutation_p.R265Q|FN1_ENST00000336916.4_Missense_Mutation_p.R265Q|FN1_ENST00000323926.6_Missense_Mutation_p.R265Q|FN1_ENST00000446046.1_Missense_Mutation_p.R265Q|FN1_ENST00000443816.1_Missense_Mutation_p.R265Q|FN1_ENST00000426059.1_Missense_Mutation_p.R265Q|FN1_ENST00000432072.2_Missense_Mutation_p.R265Q|FN1_ENST00000346544.3_Missense_Mutation_p.R265Q|FN1_ENST00000357009.2_Missense_Mutation_p.R265Q|FN1_ENST00000345488.5_Missense_Mutation_p.R265Q|FN1_ENST00000357867.4_Missense_Mutation_p.R265Q			P02751	FINC_HUMAN	fibronectin 1	265	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACTCTCCTCGGCCGTTGCC	0.552000													3	54					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119462954	119462954	+	Missense_Mutation	SNP	C	C	T	rs142545565		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:119462954C>T	ENST00000273390.5	+	14	1890	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.R605C(1)									GCTGGCTGAGCGCCAGCGGCG	0.582000													14	79					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183192355	183192355	+	Silent	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:183192355T>A	ENST00000264144.4	+	7	914	c.849T>A	c.(847-849)tcT>tcA	p.S283S	LAMC2_ENST00000493293.1_Silent_p.S283S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	283	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GACACCCATCTGCCCATGATG	0.507000													4	76					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49102472	49102472	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:49102472G>T	ENST00000323090.4	+	6	1237	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Missense_Mutation_p.G303W	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	303					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GCAGATGCGGGGGATGCCGAC	0.657000													3	9					0.184627	0.189361	1	1	0
PTPDC1	138639	broad.mit.edu	37	9	96859752	96859752	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:96859752C>T	ENST00000375360.3	+	7	1082	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R300C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	248							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AACTCCTCTCCGCAATATATT	0.453000													22	126					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370864.3_Missense_Mutation_p.R173C|TINAG_ENST00000370869.3_Missense_Mutation_p.R187C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373000													23	82					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112536312	112536312	+	Silent	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:112536312G>C	ENST00000341068.3	-	45	6097	c.5325C>G	c.(5323-5325)ctC>ctG	p.L1775L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1775					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CACATTCATAGAGTACTGAAG	0.373000													11	61					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220045	130220045	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:130220045C>A	ENST00000276211.5	+	9	1608	c.1263C>A	c.(1261-1263)aaC>aaA	p.N421K	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N285K|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N409K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	421	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGATTGATAACTGGGATGTCC	0.448000													35	188					1.60099e-16	2.04381e-16	1	1	0
SPATA31C1	0	broad.mit.edu	37	9	90535202	90535202	+	RNA	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:90535202G>T	ENST00000602681.1	+	0	1106																											GGTGACTTTGGTCAGCTCTCT	0.602000													11	65					3.41278e-10	4.26598e-10	1	1	0
OPHN1	4983	broad.mit.edu	37	X	67273590	67273590	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:67273590G>T	ENST00000355520.5	-	22	2862	c.2221C>A	c.(2221-2223)Cca>Aca	p.P741T	OPHN1_ENST00000540071.1_Missense_Mutation_p.P633T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	741	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GGCCTCACTGGGGGGCGGATG	0.552000													4	53					1	1	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37508389	37508389	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508389A>G	ENST00000374660.1	+	40	4037	c.3938A>G	c.(3937-3939)cAt>cGt	p.H1313R	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1194R|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1194R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1250						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGGTGCTCCATCAACCACTT	0.358000													7	30					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													6	4					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75884224	75884224	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr13:75884224G>A	ENST00000377636.3	-	14	2793	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	TBC1D4_ENST00000431480.2_Missense_Mutation_p.P808L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P33L|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P753L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	816						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACAACCAGCGGTTCCTCCTC	0.488000													11	14					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159138562	159138562	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:159138562G>A	ENST00000514558.1	+	4	2118	c.322G>A	c.(322-324)Gca>Aca	p.A108T	TMEM144_ENST00000296529.6_Missense_Mutation_p.A108T			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	108						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AACTGGCTGGGCAAGCTCAAG	0.383000													3	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639178	179639178	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:179639178T>A	ENST00000589042.1	-	30	7037	c.6813A>T	c.(6811-6813)aaA>aaT	p.K2271N	TTN_ENST00000460472.2_Missense_Mutation_p.K2225N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K2271N|TTN_ENST00000342992.6_Missense_Mutation_p.K2271N|TTN_ENST00000359218.5_Missense_Mutation_p.K2225N|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K2225N|TTN_ENST00000360870.5_Missense_Mutation_p.K2271N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1995	Ig-like 12.						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)			CCTGAAGTTCTTTCACAAACT	0.353000													4	20					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508622	24508622	+	Silent	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:24508622C>T	ENST00000376454.3	+	2	168	c.138C>T	c.(136-138)cgC>cgT	p.R46R	KIAA1217_ENST00000376452.3_Silent_p.R46R|KIAA1217_ENST00000458595.1_Silent_p.R46R|KIAA1217_ENST00000376462.1_5'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	46					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAAGGAACGCCTTTCTAATG	0.463000													8	31					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57563185	57563185	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:57563185G>A	ENST00000524630.1	+	5	917	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	CTNND1_ENST00000361332.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.R135Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532844.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000530094.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000399050.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000531014.1_Intron			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	135					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGGACCACTCGGCGCACAGAG	0.507000													5	18					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61309104	61309104	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61309104C>T	ENST00000341074.5	-	4	356	c.241G>A	c.(241-243)Gtt>Att	p.V81I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V81I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTGATGAACATTTCCTGAC	0.388000													6	82					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50217457	50217457	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:50217457T>C	ENST00000216267.8	-	1	995	c.509A>G	c.(508-510)aAt>aGt	p.N170S	BRD1_ENST00000404760.1_Missense_Mutation_p.N170S|BRD1_ENST00000457780.2_Missense_Mutation_p.N170S|BRD1_ENST00000404034.1_Missense_Mutation_p.N170S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	170					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGCTTCTCATTGACGATCTC	0.567000													23	30					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150714964	150714964	+	Silent	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:150714964A>G	ENST00000335244.4	-	6	799	c.670T>C	c.(670-672)Ttg>Ctg	p.L224L	SLC36A2_ENST00000521967.1_Silent_p.L224L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	224					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGATGGTCAAGATCCTGAGG	0.552000													9	15					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35454875	35454875	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:35454875T>A	ENST00000353139.5	-	53	7091	c.6610A>T	c.(6610-6612)Aag>Tag	p.K2204*	ACACA_ENST00000361253.5_Nonsense_Mutation_p.K293*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.K2167*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.K2109*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.K2089*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2167					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCTTCAACTTGTTCTCCAAC	0.522000													21	101					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516958	157516958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:157516958G>A	ENST00000361835.3	-	3	239	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	FCRL5_ENST00000356953.4_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368188.2_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368191.3_Intron	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	28	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATGGAGGCTGGAGGAAAATA	0.537000													28	96					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													2	4	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	3	---	---	---	---					
STAG3L2	0	broad.mit.edu	37	7	74306348	74306349	+	RNA	INS	-	-	GCC			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr7:74306348_74306349insGCC	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCCAGCACCCGGCCGCCGCGCG	0.752													4	4	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:6711145_6711147delTCC	ENST00000309577.6	-	4	580_582	c.417_419delGGA	c.(415-420)gat>ga	p.ED139del	CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122).		chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453													7	151	---	---	---	---					
IGHV1-18	0	broad.mit.edu	37	14	106641596	106641597	+	RNA	INS	-	-	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr14:106641596_106641597insC	ENST00000390605.2	-	0	375_376																											TGTCGTCAGATCTCAGGCTCCT	0.530													64	191	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-	rs28934573		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:7577558_7577566delGGAACTGTT	ENST00000420246.2	-	7	847_855	c.715_723delAACAGTTCC	c.(715-723)del	p.NSS239del	TP53_ENST00000269305.4_In_Frame_Del_p.NSS239del|TP53_ENST00000455263.2_In_Frame_Del_p.NSS239del|TP53_ENST00000413465.2_In_Frame_Del_p.NSS239del|TP53_ENST00000359597.4_In_Frame_Del_p.NSS239del|TP53_ENST00000445888.2_In_Frame_Del_p.NSS239del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.N239D(33)|p.N239S(28)|p.S241C(26)|p.C242fs*5(15)|p.N239fs*25(14)|p.S240G(14)|p.S241fs*6(9)|p.S241A(8)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.N239K(7)|p.N239Y(6)|p.S240I(6)|p.N239fs*1(5)|p.S241del(5)|p.?(5)|p.S148F(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.S148T(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N146fs*>10(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.N146fs*1(1)|p.C238_N239insX(1)|p.N239_C242del(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)		CGCCCATGCAGGAACTGTTACACATGTAG	0.574		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)			25	14	---	---	---	---					
ANKRD24	170961	broad.mit.edu	37	19	4199916	4199916	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:4199916delG	ENST00000600132.1	+	4	444	c.168delG	c.(166-168)gtfs	p.V56fs	ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.V146fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.V56fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	56										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TACAAGCCGTGGAAAACAACG	0.662													2	4	---	---	---	---					
SMPD4P1	0	broad.mit.edu	37	22	20975830	20975830	+	RNA	DEL	T	T	-			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:20975830delT	ENST00000443839.1	-	0	1893																											CTTCCCTACCTTTAGTGTGTT	0.587													2	4	---	---	---	---					
