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
MYSM1	114803	broad.mit.edu	37	1	59147556	59147556	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:59147556T>A	ENST00000472487.1	-	8	1199	c.1160A>T	c.(1159-1161)cAa>cTa	p.Q387L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	387	SWIRM.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TTCTTCTTCTTGAATGATATT	0.358000													20	24					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172517927	172517927	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:172517927C>T	ENST00000540014.1	+	4	1064	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	CREBRF_ENST00000522692.1_Missense_Mutation_p.R249W|CREBRF_ENST00000296953.2_Missense_Mutation_p.R249W|CREBRF_ENST00000520420.1_Missense_Mutation_p.R249W			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	249							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GCAACAGAGCCGGCCCTTGTT	0.438000													13	33					0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830398	26830398	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr22:26830398G>A	ENST00000215906.5	+	2	1255	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	273					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GTGCATCTCTGTGCTGAGCCC	0.552000													27	110					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118390508	118390508	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:118390508G>A	ENST00000534358.1	+	32	11344		c.e32+1		RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|KMT2A_ENST00000389506.5_Splice_Site|KMT2A_ENST00000354520.4_Splice_Site|RP11-770J1.3_ENST00000528578.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCCACCTCAGGCAAGTTCCCT	0.478000													10	38					0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14519944	14519944	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:14519944G>A	ENST00000242776.4	-	10	1273	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F		NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	391	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						ATTCTCGTCAGACACAAAAGT	0.527000													34	46					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298921	125298921	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chrX:125298921G>A	ENST00000538699.1	-	2	1067	c.987C>T	c.(985-987)gtC>gtT	p.V329V	DCAF12L2_ENST00000360028.2_Silent_p.V329V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	329										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCAGGAAGGAGACGTGGGACT	0.622000													61	12					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722520	14722520	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr9:14722520C>T	ENST00000380911.3	-	1	195	c.151G>A	c.(151-153)Gag>Aag	p.E51K		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	51					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GGCTTCTCCTCAGCTTCCTCA	0.567000													16	76					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538201	38538201	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr21:38538201G>A	ENST00000399017.2	+	33	6432	c.3685G>A	c.(3685-3687)Gca>Aca	p.A1229T	TTC3_ENST00000354749.2_Missense_Mutation_p.A1229T|TTC3_ENST00000355666.1_Missense_Mutation_p.A1229T|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1229					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCATCTTCAGCACCAGCTTT	0.423000													20	56					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49052744	49052744	+	Silent	SNP	G	G	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr4:49052744G>T	ENST00000226432.4	+	15	2082	c.1899G>T	c.(1897-1899)ctG>ctT	p.L633L	CWH43_ENST00000513409.1_Silent_p.L606L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	633					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATGCTGAACTGAGTGATTCAG	0.383000													13	35					3.27435e-08	3.42387e-08	1	1	0
TLR1	7096	broad.mit.edu	37	4	38799739	38799739	+	Silent	SNP	C	C	T	rs146940675		TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr4:38799739C>T	ENST00000308979.2	-	4	987	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000502213.2_Silent_p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	238					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343000													7	25					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74387263	74387263	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr17:74387263C>T	ENST00000319380.7	-	18	3704	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1214							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCTGTGTGGTCCCTGCTAGCT	0.627000													40	50					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21628852	21628852	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:21628852T>C	ENST00000328843.6	+	12	2031	c.2000T>C	c.(1999-2001)tTa>tCa	p.L667S	DNAH11_ENST00000409508.3_Missense_Mutation_p.L667S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	667	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATCACGCTTTAGTTTATCAA	0.303000									Kartagener syndrome				17	25					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49656886	49656886	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:49656886C>T	ENST00000252825.4	-	1	1795	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	HRC_ENST00000595625.1_Missense_Mutation_p.E537K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	537					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ttgtcttcctcttcttcctcc	0.607000													4	33					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43824252	43824252	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr12:43824252C>T	ENST00000389420.3	-	23	3283	c.3284G>A	c.(3283-3285)gGg>gAg	p.G1095E	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G1095E|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G249E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1095	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATCTGATACCCATGTCCACA	0.393000													17	6					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832110	44832110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:44832110G>A	ENST00000354340.4	-	4	2251	c.2200C>T	c.(2200-2202)Cag>Tag	p.Q734*	ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q757*|ZNF112_ENST00000337401.4_Nonsense_Mutation_p.Q740*	NM_013380.3	NP_037512.3			zinc finger protein 112																		TGGACTCTCTGATGACCTTGA	0.463000													51	311					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245765899	245765899	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:245765899C>G	ENST00000366518.4	+	3	332	c.228C>G	c.(226-228)atC>atG	p.I76M	KIF26B_ENST00000407071.2_Missense_Mutation_p.I457M			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	457	Gly-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGCTTCGCATCTGTTCCACCT	0.488000													9	10					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40590830	40590830	+	Silent	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr15:40590830G>C	ENST00000260402.3	-	10	1179	c.930C>G	c.(928-930)ctC>ctG	p.L310L	PLCB2_ENST00000456256.2_Silent_p.L310L|PLCB2_ENST00000557821.1_Silent_p.L310L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	310					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGTCGTGGTGGAGCAGCAGCT	0.572000													4	14					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129827696	129827696	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:129827696G>A	ENST00000358825.5	-	3	410	c.179C>T	c.(178-180)tCa>tTa	p.S60L	PRDM10_ENST00000360871.3_Missense_Mutation_p.S60L|PRDM10_ENST00000528746.1_Missense_Mutation_p.S60L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACCATCCACTGATGTGTAGGA	0.517000													24	105					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148484180	148484180	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:148484180G>A	ENST00000325222.4	+	13	1726	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	CUL1_ENST00000602748.1_Missense_Mutation_p.D483N|CUL1_ENST00000409469.1_Missense_Mutation_p.D483N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	483					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.D483N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGCAAGTGACGATGCCGAAGC	0.448000													40	30					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50411564	50411564	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:50411564C>T	ENST00000596217.1	-	2	3388	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.E425K|NUP62_ENST00000597029.1_Missense_Mutation_p.E501K|NUP62_ENST00000413454.1_Missense_Mutation_p.E501K|NUP62_ENST00000352066.3_Missense_Mutation_p.E501K|NUP62_ENST00000422090.2_Missense_Mutation_p.E501K|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	501					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTGGTCACCTCCTCCACCTTC	0.627000													40	44					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142568644	142568644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:142568644C>A	ENST00000392957.2	+	20	3840	c.3053C>A	c.(3052-3054)tCa>tAa	p.S1018*	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Nonsense_Mutation_p.S741*|EPHB6_ENST00000442129.1_Nonsense_Mutation_p.S1018*	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	1018						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGCAGGGCTCAGTGGAGGTC	0.617000													11	21					3.86212e-05	3.9839e-05	1	1	0
CD40	958	broad.mit.edu	37	20	44756800	44756800	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr20:44756800C>T	ENST00000372276.3	+	6	549	c.521C>T	c.(520-522)cCt>cTt	p.P174L	CD40_ENST00000372285.3_Silent_p.L195L|CD40_ENST00000489304.1_3'UTR	NM_152854.2	NP_690593.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	79					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GCTGAGAGCCCTGGTGGTGAT	0.572000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	70					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20114668	20114668	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:20114668G>A	ENST00000396085.1	+	30	6209	c.5848G>A	c.(5848-5850)Gaa>Aaa	p.E1950K	NAV2_ENST00000540292.1_Missense_Mutation_p.E1937K|NAV2_ENST00000360655.4_Missense_Mutation_p.E1883K|NAV2_ENST00000533917.1_Missense_Mutation_p.E1011K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1935K|NAV2_ENST00000396087.3_Missense_Mutation_p.E2006K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1947K|NAV2_ENST00000311043.8_Missense_Mutation_p.E1011K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2006						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGACACTGGTGAATGCTCGGC	0.522000													9	10					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37015267	37015267	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr13:37015267C>T	ENST00000418263.1	+	7	1458	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	CCNA1_ENST00000449823.1_Silent_p.L327L|CCNA1_ENST00000255465.4_Silent_p.L371L|CCNA1_ENST00000440264.1_Silent_p.L327L	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	371					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CGTAGCAGAGCTGAGTCTACT	0.398000													25	75					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128484142	128484142	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:128484142C>T	ENST00000325888.8	+	20	3275	c.3014C>T	c.(3013-3015)tCg>tTg	p.S1005L	FLNC_ENST00000346177.6_Missense_Mutation_p.S1005L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1005					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.S1005L(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGATGACTTCGCCCTCTCGC	0.662000													27	15					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29857275	29857275	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr16:29857275G>C	ENST00000357402.5	+	12	2251	c.2113G>C	c.(2113-2115)Gaa>Caa	p.E705Q	MVP_ENST00000395353.1_Missense_Mutation_p.E705Q	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	705					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGCTCGCAAGGAACTTTTGGA	0.622000													8	34					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149524942	149524942	+	RNA	SNP	A	A	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:149524942A>G	ENST00000378016.2	+	0	14853							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAACGCCACAAAGACCCAGA	0.677000													4	28					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87448968	87448968	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr16:87448968C>T	ENST00000268616.4	-	9	1195	c.978G>A	c.(976-978)ttG>ttA	p.L326L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	326					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CAGTAAGGCTCAAAAACTTTC	0.393000													22	39					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42195745	42195745	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr20:42195745C>T	ENST00000373100.1	+	4	534	c.74C>T	c.(73-75)tCa>tTa	p.S25L	SGK2_ENST00000373092.3_Missense_Mutation_p.S25L|SGK2_ENST00000423407.3_Missense_Mutation_p.S25L|SGK2_ENST00000426287.1_Missense_Mutation_p.S51L|SGK2_ENST00000341458.4_Missense_Mutation_p.S85L|SGK2_ENST00000373077.1_Missense_Mutation_p.S25L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	85					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTGGGGCCTTCAGCCAACCCA	0.517000													7	29					0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4598944	4598944	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:4598944C>T	ENST00000307616.1	-	1	106	c.107G>A	c.(106-108)aGa>aAa	p.R36K		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	36										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		aactttttctctctctgggca	0.582000													11	19					0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139309089	139309089	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr9:139309089C>T	ENST00000371717.3	+	5	531	c.522C>T	c.(520-522)ccC>ccT	p.P174P	PMPCA_ENST00000399219.3_Intron|PMPCA_ENST00000371720.1_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	174					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TTCTGCAGCCCCGGCTAACAG	0.552000													51	23					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786657	35786657	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:35786657G>A	ENST00000361922.4	+	4	338	c.188G>A	c.(187-189)aGc>aAc	p.S63N	MAG_ENST00000392213.3_Missense_Mutation_p.S63N|MAG_ENST00000537831.2_Missense_Mutation_p.S38N|MAG_ENST00000597035.1_Intron	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	63	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TACTTCAATAGCCCCTACCCC	0.642000													61	100					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52588862	52588862	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:52588862G>A	ENST00000356770.4	-	25	4228	c.4226C>T	c.(4225-4227)cCt>cTt	p.P1409L	PBRM1_ENST00000337303.4_Intron|PBRM1_ENST00000409767.1_Intron|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1389L|PBRM1_ENST00000409057.1_Missense_Mutation_p.P1441L|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1416L|PBRM1_ENST00000296302.7_Missense_Mutation_p.P1496L			Q86U86	PB1_HUMAN	polybromo 1	1496					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCCCTGCAAAGGTGGAAGGCC	0.547000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								5	34					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77421785	77421785	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr12:77421785G>A	ENST00000322886.7	-	11	2253	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	E2F7_ENST00000416496.2_Missense_Mutation_p.S673F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	673					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AGAAACAAGAGAGTTTGCTGT	0.413000													32	30					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671715	125671715	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:125671715C>T	ENST00000431078.1	+	24	4135	c.3771C>T	c.(3769-3771)atC>atT	p.I1257I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1257					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCATCGGCATCATGACCCGGT	0.458000													59	44					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108355502	108355502	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:108355502G>A	ENST00000361582.3	+	11	1188	c.958G>A	c.(958-960)Ggt>Agt	p.G320S	DZIP3_ENST00000463306.1_Missense_Mutation_p.G320S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	320					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGGATGTACAGGTGACATGGT	0.299000													33	131					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68700793	68700793	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:68700793G>A	ENST00000255078.3	+	9	1373	c.1262G>A	c.(1261-1263)aGc>aAc	p.S421N		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	421	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGTCACTCAGCCTGATGGAA	0.652000													6	13					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56219188	56219188	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:56219188C>T	ENST00000381226.3	-	13	1450	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	MIER3_ENST00000381199.3_Missense_Mutation_p.E474K|MIER3_ENST00000409421.1_Missense_Mutation_p.E411K|MIER3_ENST00000381213.3_Missense_Mutation_p.E473K|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CTCTCTGACTCTTCACTGCAC	0.408000													19	59					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27466153	27466153	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:27466153G>A	ENST00000264705.4	+	43	6730	c.6568G>A	c.(6568-6570)Gag>Aag	p.E2190K	CAD_ENST00000403525.1_Missense_Mutation_p.E2127K	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2190	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCGTGTCAACGAGATAAGGTG	0.562000													8	23					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168189636	168189636	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:168189636G>A	ENST00000519560.1	-	15	1937	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	SLIT3_ENST00000332966.8_Silent_p.P506P|SLIT3_ENST00000404867.3_Silent_p.P506P	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	506	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACACTTCTCGGGGCACACGA	0.607000													32	63					0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74078932	74078932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:74078932G>A	ENST00000370363.1	-	3	694	c.202C>T	c.(202-204)Cga>Tga	p.R68*	OOEP_ENST00000370359.5_Nonsense_Mutation_p.R123*			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	123	KH; atypical.					cytoplasm		p.R123*(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CCCTCACCTCGGGCACGATGT	0.542000													11	12					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55211713	55211713	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr20:55211713G>A	ENST00000201031.2	+	6	1213	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	TFAP2C_ENST00000544508.1_Missense_Mutation_p.E155K	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	324	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTGTGAAGCCGAATTTCCTAG	0.463000													36	31					0	0	1	0	0
CCT6P3	643180	broad.mit.edu	37	7	64528850	64528850	+	RNA	SNP	T	T	G	rs2949472	by1000genomes	TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:64528850T>G	ENST00000426828.1	+	0	638					NR_033416.1																						GAATTCTGGCTTTTTTTACAA	0.284000													3	23					0	0	1	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635617	233635617	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:233635617G>C	ENST00000233826.3	-	2	595	c.456C>G	c.(454-456)atC>atG	p.I152M	KCNJ13_ENST00000409779.1_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.I152M	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	152						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		AATTACCTGTGATAAAAGCCT	0.373000													6	18					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75609788	75609788	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:75609788C>T	ENST00000545601.1	+	1	112	c.47C>T	c.(46-48)tCt>tTt	p.S16F	POR_ENST00000419840.1_5'UTR|POR_ENST00000394893.1_Silent_p.L166L|POR_ENST00000461988.1_Silent_p.L166L			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	204					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ACGTGGATCTCTCTGGGGTCA	0.612000													66	44					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291149	103291149	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr8:103291149C>T	ENST00000520539.1	-	44	6799	c.6193G>A	c.(6193-6195)Gat>Aat	p.D2065N	UBR5_ENST00000220959.4_Missense_Mutation_p.D2065N|UBR5_ENST00000521922.1_Missense_Mutation_p.D2059N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2065					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCAAAAAGATCCTCCTTTCTA	0.358000													9	155					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516310	118516310	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:118516310A>G	ENST00000361417.2	+	17	3769	c.3358A>G	c.(3358-3360)Atg>Gtg	p.M1120V	PHLDB1_ENST00000527898.1_Missense_Mutation_p.M171V|PHLDB1_ENST00000524713.1_Missense_Mutation_p.M263V|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.M1073V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1120										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCTGACAGCATGGAGACCAG	0.657000													8	44					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228247982	228247982	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:228247982C>T	ENST00000366753.2	+	5	1182	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	WNT3A_ENST00000284523.1_3'UTR			P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	0					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TCCACCCCTGCGTCGAGCTGG	0.627000													24	31					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160956546	160956546	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:160956546C>G	ENST00000460469.1	+	8	1140	c.685C>G	c.(685-687)Caa>Gaa	p.Q229E	NMD3_ENST00000472947.1_Missense_Mutation_p.Q229E|NMD3_ENST00000351193.2_Missense_Mutation_p.Q229E			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	229					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ACTGATCTCTCAAGATATCCA	0.294000													9	31					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353805	113353805	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr8:113353805G>C	ENST00000297405.5	-	42	6797	c.6553C>G	c.(6553-6555)Caa>Gaa	p.Q2185E	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2081E|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q2145E|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q2115E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2185	CUB 12.					integral to membrane|plasma membrane		p.Q2145K(1)|p.Q2185K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGGTATTTGAGGACCACTA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	47					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36508816	36508816	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr17:36508816G>A	ENST00000577233.1	+	1	689	c.689G>A	c.(688-690)gGg>gAg	p.G230E	SOCS7_ENST00000331159.5_Missense_Mutation_p.G230E	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	230	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TCCGGCGGTGGGGATGGGACC	0.677000													8	5					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376161	18376161	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:18376161T>G	ENST00000392413.4	-	3	2404	c.2189A>C	c.(2188-2190)cAg>cCg	p.Q730P	KIAA1683_ENST00000600328.3_Missense_Mutation_p.Q730P|KIAA1683_ENST00000600359.3_Missense_Mutation_p.Q684P	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGCTTGGGACTGGACCTTCAC	0.617000													16	29					0	0	1	0	0
CLINT1	9685	broad.mit.edu	37	5	157214900	157214900	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:157214900C>G	ENST00000523094.1	-	12	1837	c.1632G>C	c.(1630-1632)ttG>ttC	p.L544F	CLINT1_ENST00000530742.1_Missense_Mutation_p.L544F|CLINT1_ENST00000411809.2_Missense_Mutation_p.L544F|CLINT1_ENST00000296951.5_Missense_Mutation_p.L544F|CLINT1_ENST00000523908.1_Missense_Mutation_p.L562F	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	544					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCCCCCTATCAAAGCATTAG	0.498000													7	8					0	0	1	0	0
POU3F1	5453	broad.mit.edu	37	1	38511353	38511353	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:38511353C>T	ENST00000373012.2	-	1	1097	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	355					positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAGTGGCTCTCGAGCGCGCCT	0.662000													8	14					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132437354	132437354	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chrX:132437354C>T	ENST00000370828.3	-	8	1832	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	GPC4_ENST00000535467.1_Silent_p.V366V	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	436					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CATTTCCTGTCACTGCAAACA	0.468000													23	31					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054880	29054880	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:29054880C>G	ENST00000377173.2	-	1	210	c.146G>C	c.(145-147)tGc>tCc	p.C49S		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ATCCAGAATGCACACCATCAT	0.418000													47	40					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75148091	75148091	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:75148091G>A	ENST00000372921.5	-	6	573	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Missense_Mutation_p.R43C	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7								calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ATTGCCTTACGAAGAATTTCT	0.348000													28	21					0	0	1	0	0
IL24	11009	broad.mit.edu	37	1	207073701	207073701	+	Splice_Site	SNP	C	C	T	rs142816743	byFrequency	TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:207073701C>T	ENST00000367093.3	+	4	579	c.305C>T	c.(304-306)tCg>tTg	p.S102L	IL24_ENST00000294984.2_Splice_Site_p.S101L|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Splice_Site_p.S102L	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	154					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CAGAACGTCTCGGTAATCAGA	0.557000													24	12					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161322816	161322816	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:161322816T>A	ENST00000428797.2	+	10	1356	c.1001T>A	c.(1000-1002)gTa>gAa	p.V334E	GABRA1_ENST00000023897.6_Missense_Mutation_p.V334E|GABRA1_ENST00000393943.4_Missense_Mutation_p.V334E|GABRA1_ENST00000420560.1_Missense_Mutation_p.V334E|GABRA1_ENST00000437025.2_Missense_Mutation_p.V334E|GABRA1_ENST00000444819.1_Missense_Mutation_p.V334E	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	334					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTTGCCACAGTAAACTATTTC	0.413000													92	28					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443000													5	515					0	0	1	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32586425	32586425	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:32586425C>T	ENST00000273130.4	-	4	614	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	171					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TCAACATGTTCTCTAACAACA	0.363000													16	70					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795737	42795737	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:42795737C>A	ENST00000572681.2	+	12	5521	c.5453C>A	c.(5452-5454)cCg>cAg	p.P1818Q	CIC_ENST00000160740.3_Missense_Mutation_p.P909Q|CIC_ENST00000575354.2_Missense_Mutation_p.P909Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	909					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGCAGGCCCCGCCCCCGGGT	0.642000			"""Mis, F, S"""		oligodendroglioma								62	365					3.36121e-32	3.5968e-32	1	1	0
ITGAE	3682	broad.mit.edu	37	17	3664707	3664707	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr17:3664707G>A	ENST00000263087.4	-	5	521	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	141					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAAGGTCGAAGAAGTTGGCCT	0.572000													11	52					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829231	115829231	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:115829231G>A	ENST00000369512.2	-	3	354	c.186C>T	c.(184-186)cgC>cgT	p.R62R	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GCCCCGCCACGCGTGCAGCTA	0.632000													16	22					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57037260	57037260	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:57037260C>G	ENST00000308031.5	+	5	1957	c.1824C>G	c.(1822-1824)ttC>ttG	p.F608L	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGAAGGCGTTCAGAAGAAAGT	0.428000													111	81					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18967817	18967817	+	Silent	SNP	C	C	T	rs113001728		TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:18967817C>T	ENST00000262803.5	+	14	2228	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	UPF1_ENST00000599848.1_Silent_p.L663L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	663					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						CCGTGGTCCTCGGGGCCAAGC	0.577000													19	42					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89462299	89462299	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:89462299C>G	ENST00000336596.2	+	10	1996	c.1771C>G	c.(1771-1773)Cca>Gca	p.P591A	EPHA3_ENST00000494014.1_Missense_Mutation_p.P591A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	591						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGTAAAACTTCCAGGTCTCAG	0.363000										TSP Lung(6;0.00050)			58	48					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111593458	111593458	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:111593458G>A	ENST00000304987.3	+	14	2298	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	709					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GCGGAGCCTTGAGCAGCAGCT	0.498000													17	56					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917162	97917162	+	RNA	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:97917162G>C	ENST00000534948.1	+	0	1940							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CTGAAGACCAGAGCCATGTTG	0.373000													3	15					0	0	1	0	0
MEIG1	644890	broad.mit.edu	37	10	15014541	15014541	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:15014541G>A	ENST00000407572.1	+	3	316	c.168G>A	c.(166-168)gtG>gtA	p.V56V	MEIG1_ENST00000378240.1_Silent_p.V56V	NM_001080836.2	NP_001074305.1	Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1	56										kidney(1)|ovary(1)|prostate(1)	3						CAGGATATGTGAAGAAACTTC	0.378000													11	45					0	0	1	0	0
RAB39B	116442	broad.mit.edu	37	X	154490249	154490249	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chrX:154490249C>T	ENST00000369454.3	-	2	781	c.481G>A	c.(481-483)Gag>Aag	p.E161K		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	161					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAGGCTTTCTCCACATTAATG	0.507000													14	28					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49037932	49037932	+	Silent	SNP	T	T	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr13:49037932T>A	ENST00000267163.4	+	21	2310	c.2172T>A	c.(2170-2172)atT>atA	p.I724I		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	724	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.C712_A727del(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCAAAATCATTGTAACAGCAT	0.303000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			25	14					0	0	1	0	0
SNORD115-42	100033816	broad.mit.edu	37	15	25492503	25492503	+	RNA	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr15:25492503G>C	ENST00000364273.1	+	0	12					NR_003357.1																						GGTCGATGATGAGAACCTTAT	0.512000													35	109					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33569353	33569353	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:33569353G>A	ENST00000321505.4	+	3	2718	c.2538G>A	c.(2536-2538)ttG>ttA	p.L846L	KIAA1549L_ENST00000265654.5_Silent_p.L852L|KIAA1549L_ENST00000389726.3_Silent_p.L852L					KIAA1549-like																		GTGAATCCTTGAAGTTCAGTA	0.478000													7	0					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676310	20676310	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:20676310C>G	ENST00000525748.1	+	16	2563	c.2290C>G	c.(2290-2292)Caa>Gaa	p.Q764E	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	764					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTCTTAGCTCAACACCGCGG	0.547000													33	13					0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62532807	62532807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr17:62532807G>T	ENST00000556440.2	+	18	2668	c.2158G>T	c.(2158-2160)Gaa>Taa	p.E720*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.E556*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	720						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAAGCGAGATGAACAAAGGAG	0.418000													8	33					0.000157383	0.000160896	1	1	0
ITGAL	3683	broad.mit.edu	37	16	30507528	30507528	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr16:30507528C>T	ENST00000356798.6	+	14	1794	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	ITGAL_ENST00000358164.5_Silent_p.D455D|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	538					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.D538E(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGCTGGTAGACGTGGCTGTGG	0.622000													42	40					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483288	17483288	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:17483288C>T	ENST00000302539.4	-	5	789	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	ABCC8_ENST00000389817.3_Missense_Mutation_p.V222M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	222					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGCAGATTCACGAAGGGCTGC	0.577000													26	26					0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12262872	12262872	+	Silent	SNP	G	G	C	rs147150550	byFrequency	TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr18:12262872G>C	ENST00000320477.9	+	2	152	c.87G>C	c.(85-87)ccG>ccC	p.P29P	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	29					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						TGTTCACCCCGCTCATGCATC	0.527000													21	30					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764433	77764433	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr8:77764433C>T	ENST00000521891.2	+	10	5724	c.5276C>T	c.(5275-5277)tCt>tTt	p.S1759F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1714F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1714F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1733F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1714	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGCCAGGCTCTGCCACATTT	0.507000										HNSCC(33;0.089)			17	15					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13916456	13916456	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:13916456C>G	ENST00000265104.4	-	9	1302		c.e9+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATGCACTTACCTTTACAAAC	0.308000									Kartagener syndrome				11	51					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50106602	50106602	+	Missense_Mutation	SNP	A	A	G	rs145732474		TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr16:50106602A>G	ENST00000299192.7	+	5	790	c.599A>G	c.(598-600)aAt>aGt	p.N200S	HEATR3_ENST00000285767.4_Missense_Mutation_p.N114S	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	200							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTCCTACCAATGTTGACCTG	0.358000													11	43					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36261951	36261951	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:36261951C>T	ENST00000312917.5	+	4	370	c.231C>T	c.(229-231)ctC>ctT	p.L77L	PNPLA1_ENST00000388715.3_Intron|PNPLA1_ENST00000394571.2_Intron			Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	168	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GGGCATTTCTCACTCTGCCCC	0.597000													14	14					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959940	73959940	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chrX:73959940T>G	ENST00000055682.6	-	3	5063	c.4452A>C	c.(4450-4452)aaA>aaC	p.K1484N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTACCTCAGTTTTTCAAAAG	0.478000													14	28					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21104628	21104628	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:21104628G>T	ENST00000377122.4	-	22	2563	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	723				RAKENQKNISNVYYRGQLGRA -> PKETRKTSACLLQSSA GES (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTCTTCCCAGCTGACCTCTG	0.328000													18	57					1.15919e-05	1.20115e-05	1	1	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													3	41					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171753213	171753213	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:171753213C>G	ENST00000361735.3	+	2	753	c.487C>G	c.(487-489)Cag>Gag	p.Q163E	METTL13_ENST00000458517.1_Missense_Mutation_p.Q162E|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Missense_Mutation_p.Q77E	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	163							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CTCCCTGGCTCAGGCTCACAT	0.597000													6	31					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872938	55872938	+	Silent	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:55872938C>G	ENST00000313503.1	+	1	420	c.420C>G	c.(418-420)ctC>ctG	p.L140L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCAAAAGGCTCTGCCTCGCTC	0.463000										HNSCC(53;0.14)			34	147					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133733169	133733169	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr12:133733169C>T	ENST00000248211.6	+	5	1559	c.1337C>T	c.(1336-1338)tCt>tTt	p.S446F	ZNF10_ENST00000402932.2_Missense_Mutation_p.S312F|ZNF10_ENST00000426665.2_Missense_Mutation_p.S446F|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGTCGAAGCTCTCACCTTTAT	0.403000													25	72					0	0	1	0	0
CTDNEP1	23399	broad.mit.edu	37	17	7150405	7150405	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr17:7150405G>A	ENST00000573600.1	-	4	687	c.266C>T	c.(265-267)aCg>aTg	p.T89M	RP1-4G17.5_ENST00000577138.1_3'UTR|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.T89M|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.T89M|CTDNEP1_ENST00000572043.1_De_novo_Start_InFrame			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	89	FCP1 homology.				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCAGGAGGCGTACCAGGCCG	0.562000													13	61					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835841	82835841	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:82835841G>C	ENST00000265077.3	+	8	7584	c.7019G>C	c.(7018-7020)gGa>gCa	p.G2340A	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.G1353A|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2340	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGTGACACTGGAGCAGAAGGA	0.468000													31	41					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278169	114278169	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr4:114278169G>A	ENST00000357077.4	+	38	8448	c.8395G>A	c.(8395-8397)Gat>Aat	p.D2799N	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2766N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2766					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCGACTGGTGATGATGTTGA	0.473000													15	30					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717905	45717905	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr20:45717905C>T	ENST00000327619.5	+	8	1063	c.689C>T	c.(688-690)tCc>tTc	p.S230F	EYA2_ENST00000357410.3_Missense_Mutation_p.S230F|EYA2_ENST00000317304.6_Missense_Mutation_p.S230F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	230					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AATGGACCTTCCACACCAGCG	0.582000													16	79					0	0	1	0	0
REM2	161253	broad.mit.edu	37	14	23354141	23354141	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr14:23354141G>A	ENST00000267396.4	+	2	485	c.362G>A	c.(361-363)gGg>gAg	p.G121E	REM2_ENST00000536884.1_Missense_Mutation_p.G121E	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	121					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		ATGCTAGTGGGGGAGAGCGGC	0.607000													17	82					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600156	3600156	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:3600156C>T	ENST00000302006.3	+	2	1146	c.1094C>T	c.(1093-1095)aCc>aTc	p.T365I	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	365						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGACTGTACACCTGCCACATC	0.701000													5	30					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	236616	236616	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:236616C>T	ENST00000264932.6	+	10	1449	c.1334C>T	c.(1333-1335)tCg>tTg	p.S445L	SDHA_ENST00000504309.1_Missense_Mutation_p.S445L|SDHA_ENST00000510361.1_Missense_Mutation_p.S397L	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	445					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCCTGTGCCTCGGTACATGGT	0.597000									Familial Paragangliomas				5	242					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6058981	6058981	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr12:6058981C>G	ENST00000261405.5	-	51	8478	c.8224G>C	c.(8224-8226)Gaa>Caa	p.E2742Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2742	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACCTCTACTTCAGACTTACAG	0.527000													18	51					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76844766	76844766	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr12:76844766C>T	ENST00000261183.3	-	4	561	c.82G>A	c.(82-84)Gtt>Att	p.V28I	OSBPL8_ENST00000393250.4_Intron|OSBPL8_ENST00000393249.2_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	28					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTGCTACAACAGCTCAAGGA	0.378000													29	7					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27332385	27332385	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:27332385G>A	ENST00000376087.4	-	20	2296	c.2131C>T	c.(2131-2133)Ctc>Ttc	p.L711F	ANKRD26_ENST00000376070.3_Missense_Mutation_p.L268F|ANKRD26_ENST00000436985.2_Missense_Mutation_p.L727F	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	710						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTTCAATGAGCAACATAAAA	0.353000													5	26					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612795	53612795	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:53612795G>A	ENST00000455735.2	-	7	967	c.647C>T	c.(646-648)tCt>tTt	p.S216F	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.S168F|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.S216F|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.S155F|ZNF415_ENST00000243643.4_Missense_Mutation_p.S168F|ZNF415_ENST00000421033.1_Missense_Mutation_p.S180F			Q09FC8	ZN415_HUMAN	zinc finger protein 415	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ATGGTTGACAGACTTCTCAAC	0.378000													73	98					0	0	1	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													6	112					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128401	30128401	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:30128401C>T	ENST00000449742.2	-	1	310	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	TRIM10_ENST00000376704.3_Missense_Mutation_p.V79M	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	79						cytoplasm	zinc ion binding			ovary(1)	1						ATGTTCTCCACCACGTTAGCC	0.582000													59	72					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990913	63990913	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:63990913C>G	ENST00000370657.4	-	4	576	c.543G>C	c.(541-543)ttG>ttC	p.L181F	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	181					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTGGGGAAGTCAAAAGAGGCT	0.458000													16	36					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652912	55652912	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:55652912C>G	ENST00000449290.2	+	2	100	c.8C>G	c.(7-9)tCt>tGt	p.S3C		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	3						intracellular	zinc ion binding										AACATGAATTCTGGAATCTTG	0.458000													18	79					0	0	1	0	0
RPS4X	6191	broad.mit.edu	37	X	71493768	71493768	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chrX:71493768G>A	ENST00000316084.6	-	5	519	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	139					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGAGTCACCAGATGAGGGATT	0.438000													12	11					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18964084	18964084	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:18964084G>A	ENST00000262803.5	+	8	1353	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	UPF1_ENST00000599848.1_Missense_Mutation_p.E372K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	372	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						GCAGGGGGATGAGATATGCCT	0.537000													3	21					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49426373	49426373	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr12:49426373C>T	ENST00000301067.7	-	39	12114	c.12115G>A	c.(12115-12117)Gag>Aag	p.E4039K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GAGGGCCCCTCAGTGGCCTCT	0.567000													7	11					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039430	31039430	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:31039430C>T	ENST00000355537.3	+	4	3051	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	968					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAGGAAGTCCGAGAAATCTC	0.587000													72	98					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19475149	19475149	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr16:19475149C>T	ENST00000396229.2	+	8	2037	c.1288C>T	c.(1288-1290)Ctg>Ttg	p.L430L	TMC5_ENST00000219821.5_Silent_p.L184L|TMC5_ENST00000564959.1_Silent_p.L113L|TMC5_ENST00000381414.4_Silent_p.L430L|TMC5_ENST00000541464.1_Silent_p.L430L|TMC5_ENST00000561503.1_Silent_p.L71L|TMC5_ENST00000542583.2_Silent_p.L430L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	430						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCCATCAGCCTGTGGCAGAA	0.453000													11	11					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143537	49143537	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chrX:49143537G>A	ENST00000055335.6	+	4	2401	c.2385G>A	c.(2383-2385)ctG>ctA	p.L795L	PPP1R3F_ENST00000376188.1_Silent_p.L449L|PPP1R3F_ENST00000466508.1_Silent_p.L449L|PPP1R3F_ENST00000438316.1_Silent_p.L466L|PPP1R3F_ENST00000495799.1_Silent_p.L449L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	795						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCCTCTCTCTGGCTTGGTTCT	0.592000													14	1					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767007	105767007	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr9:105767007C>T	ENST00000374798.3	+	4	281	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	CYLC2_ENST00000487798.1_Missense_Mutation_p.R71C	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	71	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.R71C(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGAGGAGATCGTAGACAACC	0.363000													6	16					0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21359969	21359969	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr14:21359969C>A	ENST00000304639.3	+	2	182	c.124C>A	c.(124-126)Cac>Aac	p.H42N		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	42					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TGCCATCCAGCACATCAGTCT	0.488000													28	80					1.68575e-08	1.77082e-08	1	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478640	14478640	+	RNA	SNP	C	C	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr18:14478640C>A	ENST00000581457.1	-	0	1268					NR_024076.1																						AGCTGTATGTCCCAGAGTACT	0.423000													7	14					0.00307968	0.00313443	1	1	0
CDKL3	51265	broad.mit.edu	37	5	133640198	133640198	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:133640198C>G	ENST00000521118.1	-	11	1633	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	CDKL3_ENST00000609654.1_Missense_Mutation_p.E318Q|CDKL3_ENST00000609383.1_Missense_Mutation_p.M180I|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523054.1_Missense_Mutation_p.E318Q|CDKL3_ENST00000536186.1_Missense_Mutation_p.E212Q|CDKL3_ENST00000435240.2_Missense_Mutation_p.E212Q|CDKL3_ENST00000265334.4_Missense_Mutation_p.E507Q			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	507						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTTGTTCTCATTTGCCATT	0.368000													7	28					0	0	1	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75562445	75562445	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr15:75562445G>C	ENST00000300576.5	+	18	1987	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	663										ovary(1)	1						CAACAACGTGGAGCCTGCACC	0.632000													10	69					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221503	5221503	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:5221503G>A	ENST00000321255.1	-	1	427	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCAGGATGGAGGAATAACG	0.398000													33	7					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488012	24488012	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:24488012G>A	ENST00000264463.4	-	12	2634	c.2127C>T	c.(2125-2127)gaC>gaT	p.D709D	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	709					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATCCCGGACGTCCGTGTTAT	0.468000										HNSCC(23;0.051)			21	25					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49721500	49721500	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:49721500C>T	ENST00000449682.2	-	18	2500	c.2139G>A	c.(2137-2139)gtG>gtA	p.V713V		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	699					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTCCACAAACACAGAGACAC	0.522000													23	77					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204939815	204939815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:204939815C>T	ENST00000367172.4	+	11	1403	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	NFASC_ENST00000367169.4_Nonsense_Mutation_p.R359*|NFASC_ENST00000403080.1_Nonsense_Mutation_p.R359*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.R370*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.R359*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.R359*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.R353*|NFASC_ENST00000404907.1_Nonsense_Mutation_p.R370*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.R359*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.R370*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.R370*|NFASC_ENST00000401399.1_Nonsense_Mutation_p.R359*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.R359*|NFASC_ENST00000367170.4_Nonsense_Mutation_p.R359*			O94856	NFASC_HUMAN	neurofascin	359	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTGGTGTGTCGAGCCAATGG	0.547000													35	8					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106756	168106756	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:168106756G>C	ENST00000409195.1	+	9	8943	c.8854G>C	c.(8854-8856)Gaa>Caa	p.E2952Q	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2952Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2730Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2777					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGAAAACGTGAAGAACTGCA	0.378000													21	76					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209517	98209517	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr9:98209517G>C	ENST00000430669.2	-	23	4408	c.3823C>G	c.(3823-3825)Cct>Gct	p.P1275A	PTCH1_ENST00000418258.1_Missense_Mutation_p.P1190A|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1190A|PTCH1_ENST00000331920.6_Missense_Mutation_p.P1341A|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1275A|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1190A|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1340A			Q13635	PTC1_HUMAN	patched 1	1341					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCCCCGCGAGGGCCCCAGCGG	0.637000													20	67					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165383525	165383525	+	Splice_Site	SNP	A	A	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:165383525A>G	ENST00000263915.3	-	4	1140	c.602T>C	c.(601-603)aTg>aCg	p.M201T	GRB14_ENST00000543549.1_Splice_Site_p.M114T	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	201					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCACTTACCATTGGGTTTTT	0.328000													26	15					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616437	248616437	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:248616437C>G	ENST00000342927.3	+	1	361	c.339C>G	c.(337-339)ttC>ttG	p.F113L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGGGAATTCTTCCTGCTGG	0.542000													13	108					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702664	181702664	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:181702664G>C	ENST00000526775.1	+	20	3148	c.2983G>C	c.(2983-2985)Gaa>Caa	p.E995Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1014Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E965Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E621Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E995Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E946Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1014Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1014					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCTGAGCTGGAAGTGGGGAA	0.627000													5	33					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905130	153905130	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:153905130G>A	ENST00000361217.4	-	23	4165	c.3747C>T	c.(3745-3747)aaC>aaT	p.N1249N	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1249										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATGTGCCCGTTGCAGAGCT	0.632000													3	35					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49750028	49750028	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:49750028C>T	ENST00000327697.6	+	27	2757	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	RNF123_ENST00000432042.1_Silent_p.I725I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	871						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCGTGGCCATCAACAGCTACA	0.562000													7	50					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47375962	47375962	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr18:47375962G>A	ENST00000285039.7	-	32	4589	c.4290C>T	c.(4288-4290)taC>taT	p.Y1430Y	MYO5B_ENST00000324581.6_Silent_p.Y545Y|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1430					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTTTCTTCATGTAAATCTTCA	0.478000													115	244					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53824975	53824975	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr12:53824975G>A	ENST00000257863.4	+	11	1520	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	AMHR2_ENST00000550311.1_Silent_p.*479*|AMHR2_ENST00000379791.3_Silent_p.L385L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	480	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CTGATGGGCTGAGGGAGCTCC	0.582000													25	47					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312229	48312229	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:48312229C>T	ENST00000435803.1	+	17	2990	c.2966C>T	c.(2965-2967)aCa>aTa	p.T989I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	989					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTTTCCTTACACAAATCTCA	0.299000													10	11					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899411	36899411	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:36899411T>C	ENST00000301807.6	-	12	1917	c.20A>G	c.(19-21)aAg>aGg	p.K7R	TRANK1_ENST00000428977.2_Missense_Mutation_p.K7R|TRANK1_ENST00000429976.2_Missense_Mutation_p.K557R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	557					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TAGCATGCCCTTCTGGAAGAG	0.502000													13	40					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45489719	45489719	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:45489719G>A	ENST00000541297.2	+	7	1102	c.637G>A	c.(637-639)Gag>Aag	p.E213K	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Missense_Mutation_p.E125K|CLPTM1_ENST00000337392.5_Missense_Mutation_p.E227K			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	227					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCAGAGGGCTGAGGACTATGG	0.602000													28	88					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25456693	25456693	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr20:25456693C>T	ENST00000278886.6	-	17	3307	c.3234G>A	c.(3232-3234)ttG>ttA	p.L1078L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1078					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGTTCTCTCTCAAATCTACAT	0.443000													26	31					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53611727	53611727	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:53611727T>A	ENST00000455735.2	-	7	2035	c.1715A>T	c.(1714-1716)tAc>tTc	p.Y572F	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.Y524F|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.Y572F|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.Y294F|ZNF415_ENST00000440291.1_Missense_Mutation_p.Y511F|ZNF415_ENST00000243643.4_Missense_Mutation_p.Y524F|ZNF415_ENST00000421033.1_Missense_Mutation_p.Y536F			Q09FC8	ZN415_HUMAN	zinc finger protein 415	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ACTACATTTGTAAGGTTTCTT	0.373000													157	156					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	50					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239040306	239040306	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:239040306G>A	ENST00000343063.3	+	9	3214	c.2951G>A	c.(2950-2952)gGc>gAc	p.G984D	ESPNL_ENST00000409506.1_Missense_Mutation_p.G616D|ESPNL_ENST00000409169.1_Missense_Mutation_p.G940D|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	984										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GACATCTGCGGCTACATCAAC	0.607000													5	40					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616138	92616138	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:92616138C>G	ENST00000298047.6	+	23	12533	c.12516C>G	c.(12514-12516)ttC>ttG	p.F4172L	FAT3_ENST00000525166.1_Missense_Mutation_p.F4022L|FAT3_ENST00000409404.2_Missense_Mutation_p.F4172L|FAT3_ENST00000533797.1_Missense_Mutation_p.F507L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4172					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGTTCTCTTCATAGTCTTCC	0.567000										TCGA Ovarian(4;0.039)			8	12					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122774974	122774974	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:122774974G>A	ENST00000339697.4	-	5	614	c.530C>T	c.(529-531)tCa>tTa	p.S177L		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TTCATTCCATGAATGTGCAAA	0.398000													39	15					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102266078	102266078	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:102266078C>G	ENST00000370345.3	-	8	979	c.882G>C	c.(880-882)gaG>gaC	p.E294D	SEC31B_ENST00000535773.1_Splice_Site_p.E137D|SEC31B_ENST00000370329.5_Splice_Site_p.E297D|SEC31B_ENST00000451524.1_Splice_Site_p.E294D	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	294					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCCAGCCTACCTCACTGCTCC	0.562000													8	26					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20766696	20766696	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:20766696A>G	ENST00000404938.2	+	22	3311	c.2659A>G	c.(2659-2661)Ata>Gta	p.I887V	ABCB5_ENST00000258738.6_Missense_Mutation_p.I442V	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	442					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATACGTACTATAGTGTCATT	0.318000													18	39					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48573431	48573431	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:48573431G>C	ENST00000340553.3	+	3	339	c.78G>C	c.(76-78)caG>caC	p.Q26H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	26					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GATTAAGCCAGATTTACAAAA	0.458000													37	63					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126197	140126197	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr9:140126197C>G	ENST00000538474.1	+	2	267	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L15V	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	15					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCACCCCACTCTGGACGCGGT	0.652000													17	146					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68255453	68255453	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr8:68255453C>T	ENST00000262215.3	-	1	459	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	24					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCTTCACTTCCTTGTCGGCC	0.617000													9	50					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99227358	99227358	+	Silent	SNP	G	G	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:99227358G>T	ENST00000394152.2	+	8	1677	c.1350G>T	c.(1348-1350)cgG>cgT	p.R450R	ZSCAN25_ENST00000262941.6_Silent_p.R378R|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Silent_p.R450R	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		AGGTGCACCGGAGGACGCACA	0.652000													30	26					2.08457e-15	2.21003e-15	1	1	0
DCPS	28960	broad.mit.edu	37	11	126176557	126176557	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:126176557G>A	ENST00000263579.4	+	2	623	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	98					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CTCAGCTCCTGACGGGCAGCC	0.557000													5	20					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													3	31					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161491870	161491870	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:161491870G>C	ENST00000392142.4	+	4	2086	c.1938G>C	c.(1936-1938)ttG>ttC	p.L646F	MAP3K4_ENST00000348824.7_Missense_Mutation_p.L646F|MAP3K4_ENST00000366919.2_Missense_Mutation_p.L646F|MAP3K4_ENST00000366920.2_Missense_Mutation_p.L646F	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	646					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATCTCTCTTGAGTATTAAGC	0.363000													4	6					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26392755	26392755	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:26392755G>A	ENST00000356709.4	+	8	1243	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	BTN2A2_ENST00000416795.2_Missense_Mutation_p.A378T|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A262T|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A168T|BTN2A2_ENST00000469230.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	378	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGAGAGCTTCGCCTCAGGGAA	0.587000													22	61					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337195	102337195	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chrX:102337195G>C	ENST00000395065.3	-	9	979	c.878C>G	c.(877-879)tCc>tGc	p.S293C	NXF3_ENST00000425463.2_Missense_Mutation_p.S204C|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	293						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TATGTTGCTGGAGGTATCCGA	0.557000													36	60					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737466	4737466	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr12:4737466C>T	ENST00000545990.2	-	5	1126	c.602G>A	c.(601-603)aGa>aAa	p.R201K	AKAP3_ENST00000228850.1_Missense_Mutation_p.R201K|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	201					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCCCGAGACTCTGTCTCCAGA	0.488000													30	70					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99227357	99227357	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:99227357G>T	ENST00000394152.2	+	8	1676	c.1349G>T	c.(1348-1350)cGg>cTg	p.R450L	ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R378L|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R450L	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		CAGGTGCACCGGAGGACGCAC	0.657000													31	25					1.61788e-16	1.72323e-16	1	1	0
SPOCK3	50859	broad.mit.edu	37	4	168155311	168155311	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr4:168155311G>A	ENST00000357154.3	-	2	151	c.14C>T	c.(13-15)tCa>tTa	p.S5L	SPOCK3_ENST00000511269.1_Missense_Mutation_p.S5L|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.S5L|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.S5L|SPOCK3_ENST00000506886.1_Missense_Mutation_p.S5L|SPOCK3_ENST00000511531.1_Missense_Mutation_p.S5L|SPOCK3_ENST00000510741.1_Missense_Mutation_p.S5L|SPOCK3_ENST00000504953.1_Missense_Mutation_p.S5L|SPOCK3_ENST00000541637.1_Missense_Mutation_p.S5L|SPOCK3_ENST00000512681.1_Missense_Mutation_p.S5L|SPOCK3_ENST00000357545.4_Missense_Mutation_p.S5L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	5					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAGTACGGCTGACACCTTGAG	0.627000													8	13					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													4	50					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992725	67992725	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr18:67992725T>G	ENST00000397942.3	+	2	1137	c.821T>G	c.(820-822)gTt>gGt	p.V274G	SOCS6_ENST00000582322.1_Missense_Mutation_p.V274G	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	274					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CAGGACCTAGTTGTCGCCCCA	0.577000													44	40					0	0	1	0	0
PSTK	118672	broad.mit.edu	37	10	124742896	124742896	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:124742896G>A	ENST00000405485.1	+	3	683	c.617G>A	c.(616-618)gGa>gAa	p.G206E	PSTK_ENST00000368887.3_Missense_Mutation_p.G206E|PSTK_ENST00000497219.1_3'UTR			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	206			G -> R (in dbSNP:rs3736582).				ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CACCTGATGGGAAGAAAGCTA	0.512000													7	25					0	0	1	0	0
MRPL52	122704	broad.mit.edu	37	14	23303385	23303385	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr14:23303385G>A	ENST00000355151.5	+	5	257	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	MRPL52_ENST00000311892.6_Missense_Mutation_p.E13K|MRPL52_ENST00000432849.3_Silent_p.T77T|MRPL52_ENST00000557221.1_Missense_Mutation_p.R4Q|MRPL52_ENST00000555345.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000397505.2_Silent_p.T54T|MRPL52_ENST00000555536.1_Silent_p.T19T|MRPL52_ENST00000397496.3_Missense_Mutation_p.R75Q|MRPL52_ENST00000553711.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000556840.1_Missense_Mutation_p.R17Q	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	76					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TTTCAGAGACGAGTTGTACTG	0.443000													8	50					0	0	1	0	0
HIGD2A	192286	broad.mit.edu	37	5	175815937	175815937	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:175815937C>T	ENST00000274787.2	+	1	190	c.117C>T	c.(115-117)ttC>ttT	p.F39F	NOP16_ENST00000389158.5_5'UTR	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	39	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		AGGAAAAGTTCGTTCGCAAGA	0.542000													24	84					0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67432126	67432126	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr16:67432126G>A	ENST00000348579.2	-	8	1257	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	306						integral to membrane	DNA binding|zinc ion binding	p.R306W(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TGAATGGGCCGCATCTTGGGA	0.627000													5	63					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59058917	59058917	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr8:59058917C>A	ENST00000361488.3	+	5	1008	c.128C>A	c.(127-129)cCc>cAc	p.P43H	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	43						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CAGGCCGAGCCCAACCCCAAG	0.652000													17	14					3.51602e-12	3.71045e-12	1	1	0
XKR7	343702	broad.mit.edu	37	20	30584444	30584444	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr20:30584444C>T	ENST00000562532.2	+	3	1098	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGCACCTGTTCAGCATTGCCG	0.642000													25	32					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466052	56466052	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:56466052G>A	ENST00000291971.3	+	3	699	c.628G>A	c.(628-630)Gga>Aga	p.G210R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G210R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	210	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGCCATACAGGGAGCTCCTGG	0.522000													20	115					0	0	1	0	0
PNMT	5409	broad.mit.edu	37	17	37826297	37826297	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr17:37826297G>A	ENST00000269582.2	+	3	822	c.504G>A	c.(502-504)ggG>ggA	p.G168G	PNMT_ENST00000394246.1_Silent_p.G70G|PNMT_ENST00000581428.1_3'UTR	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	168					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGGTGCTGGGAGCCCAGCTC	0.657000													9	32					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861871	25861871	+	Silent	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:25861871G>C	ENST00000397060.4	-	5	715	c.606C>G	c.(604-606)ctC>ctG	p.L202L	SLC17A3_ENST00000361703.6_Silent_p.L124L|SLC17A3_ENST00000360657.3_Silent_p.L124L	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	124					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAATGCTGCAGAGTCTGCTTC	0.413000													22	67					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156911198	156911198	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:156911198G>A	ENST00000368194.3	-	35	4519	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F	ARHGEF11_ENST00000361409.2_Silent_p.F1120F|ARHGEF11_ENST00000315174.8_Silent_p.F536F|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1120					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTCACCATGGAACACGTCTG	0.537000													12	32					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139886442	139886442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:139886442G>A	ENST00000297183.6	+	19	3555	c.3431G>A	c.(3430-3432)cGa>cAa	p.R1144Q	ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1144Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1144Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGGCTCGAGGTGCAAAT	0.388000													14	68					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	132891523	132891523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:132891523G>A	ENST00000368642.4	-	12	1748	c.1663C>T	c.(1663-1665)Caa>Taa	p.Q555*		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	555	FF 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTTCTTTTTTGAACAAGTCGG	0.423000													4	55					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487487	108487487	+	Silent	SNP	T	T	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:108487487T>A	ENST00000408999.3	+	20	3104	c.3027T>A	c.(3025-3027)ggT>ggA	p.G1009G	RGPD4_ENST00000354986.4_Silent_p.G1009G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1009					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CACAATGCGGTAAAATGGCCA	0.398000													90	85					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912944	150912944	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chrX:150912944G>C	ENST00000329903.4	+	6	2002	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	657					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAACAGCCCTGAGCTGGCTGC	0.537000													7	14					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58728237	58728237	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:58728237G>C	ENST00000295966.7	-	16	2145	c.1642C>G	c.(1642-1644)Ctg>Gtg	p.L548V	C3orf67_ENST00000482387.1_Missense_Mutation_p.L674V	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	674										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TAACAGTTCAGACAAGGGTCA	0.507000													11	50					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94767363	94767363	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr8:94767363G>A	ENST00000453321.3	+	1	279	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	74					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CAAGATGCCCGAGGTAAGACG	0.552000													16	76					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86123641	86123641	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr15:86123641C>T	ENST00000394518.2	+	7	2437	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L	AKAP13_ENST00000361243.2_Missense_Mutation_p.S781L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	781					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGTAATATCAGACAGTACT	0.443000													34	43					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422720	26422720	+	Silent	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr22:26422720G>A	ENST00000335473.7	+	43	7030	c.6780G>A	c.(6778-6780)aaG>aaA	p.K2260K	MYO18B_ENST00000536101.1_Silent_p.K2260K|MYO18B_ENST00000407587.2_Silent_p.K2261K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2260						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCGGAGGAAGAGAGCCCAGA	0.637000													8	2					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086404	126086404	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:126086404A>C	ENST00000339582.2	-	10	3261	c.2453T>G	c.(2452-2454)cTt>cGt	p.L818R	GRM8_ENST00000358373.3_Missense_Mutation_p.L818R|GRM8_ENST00000444921.2_Missense_Mutation_p.L818R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	818					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAGACAGTAAGTGTTGTTGT	0.343000										HNSCC(24;0.065)			10	52					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54485474	54485474	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:54485474G>A	ENST00000270458.2	+	4	752	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	217					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E217Q(1)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CATCCTGGCCGAGGTGATAGG	0.672000													25	12					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553287	19553287	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:19553287G>C	ENST00000536433.1	-	1	3390	c.280C>G	c.(280-282)Cat>Gat	p.H94D	OSR1_ENST00000272223.2_Missense_Mutation_p.H94D			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	94					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGAATGACATGAGGGAACCAG	0.612000													6	20					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237993829	237993829	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:237993829G>C	ENST00000366574.2	+	103	14972		c.e103-1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGTTTTCTAGACCAAATGCT	0.408000													23	39					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	905679	905679	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:905679C>T	ENST00000456758.2	+	22	2522	c.2522C>T	c.(2521-2523)tCg>tTg	p.S841L	SUN1_ENST00000405266.1_Missense_Mutation_p.S689L|SUN1_ENST00000413514.2_Missense_Mutation_p.S450L|SUN1_ENST00000389574.3_Missense_Mutation_p.S569L|SUN1_ENST00000425407.2_Missense_Mutation_p.S569L|SUN1_ENST00000452783.2_Missense_Mutation_p.S549L|SUN1_ENST00000401592.1_Missense_Mutation_p.S652L			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	679					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGTACTTCTCGCAGTCCCCG	0.572000													15	30					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39088534	39088534	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr2:39088534C>G	ENST00000295373.6	-	5	1144	c.1018G>C	c.(1018-1020)Gat>Cat	p.D340H	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	340							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGATGAGAATCATCTACACTT	0.343000													13	24					0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140037139	140037139	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:140037139G>A	ENST00000326232.9	-	14	1540	c.1337C>T	c.(1336-1338)tCt>tTt	p.S446F	SLC37A3_ENST00000340308.3_Silent_p.V345V|SLC37A3_ENST00000447932.2_Missense_Mutation_p.S430F	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	446					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CCGGATCAGAGACACTAAATA	0.313000													8	14					0	0	1	0	0
SSX1	6756	broad.mit.edu	37	X	48117200	48117200	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chrX:48117200C>A	ENST00000376919.3	+	3	225	c.89C>A	c.(88-90)aCa>aAa	p.T30K		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	30	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GATATTGCCACATACTTCTCT	0.383000			T	SS18	synovial sarcoma								17	4					0.0383953	0.0387336	1	1	0
SPINT2	10653	broad.mit.edu	37	19	38781187	38781187	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:38781187G>C	ENST00000301244.7	+	6	999	c.564G>C	c.(562-564)gaG>gaC	p.E188D	SPINT2_ENST00000587090.1_Missense_Mutation_p.E138D|CTB-102L5.4_ENST00000591889.1_Missense_Mutation_p.R66T|SPINT2_ENST00000454580.3_Missense_Mutation_p.E131D	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	188					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCAGCAGGAGAATCCTCCCC	0.642000													37	16					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74722527	74722527	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr17:74722527C>G	ENST00000445478.2	-	1	234	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	JMJD6_ENST00000397625.4_Missense_Mutation_p.E11Q|JMJD6_ENST00000585429.1_Missense_Mutation_p.E11Q	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	11					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CGCTTGGCCTCGCGGATGCGC	0.662000													6	33					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93904761	93904761	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:93904761C>T	ENST00000412050.4	-	5	1350	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q	CPEB3_ENST00000265997.4_Missense_Mutation_p.R435Q	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	435							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCGTTCTACTCGTTCCCCATT	0.438000													18	45					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31742304	31742304	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:31742304G>A	ENST00000375686.3	-	5	947	c.710C>T	c.(709-711)cCg>cTg	p.P237L	VWA7_ENST00000375688.4_Missense_Mutation_p.P237L|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.P237L	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	237						extracellular region											TGGAGGTTTCGGGGGATGAGT	0.542000													7	20					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30011021	30011021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr15:30011021G>A	ENST00000346128.6	-	21	3799	c.3325C>T	c.(3325-3327)Cag>Tag	p.Q1109*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.Q1033*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.Q1109*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.Q1029*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1109					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGAGAGTGCTGATTATCAAAA	0.498000													17	52					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39261679	39261679	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr13:39261679C>T	ENST00000280481.7	+	1	414	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	66					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGCAGGGGTCCCTGCTGAGG	0.677000													5	11					0	0	1	0	0
PFN1	5216	broad.mit.edu	37	17	4851678	4851678	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr17:4851678C>G	ENST00000225655.5	-	1	631	c.12G>C	c.(10-12)tgG>tgC	p.W4C		NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	4					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						TGTAGGCGTTCCACCCGGCCA	0.731000													9	15					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82817223	82817223	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr5:82817223A>T	ENST00000265077.3	+	7	3663	c.3098A>T	c.(3097-3099)gAa>gTa	p.E1033V	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E985V|VCAN_ENST00000342785.4_Missense_Mutation_p.E1033V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1033	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAACTCAGGAAGAATTCCCT	0.453000													8	22					0	0	1	0	0
UBE2S	27338	broad.mit.edu	37	19	55918211	55918211	+	Silent	SNP	G	G	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:55918211G>T	ENST00000264552.9	-	2	310	c.123C>A	c.(121-123)acC>acA	p.T41T	UBE2S_ENST00000589978.1_Silent_p.T41T	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	41					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		CCTGGAGGTCGGTGAGGTCCT	0.582000													27	82					9.22233e-05	9.47046e-05	1	1	0
FAM178A	55719	broad.mit.edu	37	10	102678153	102678153	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr10:102678153C>T	ENST00000238961.4	+	4	1470	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	FAM178A_ENST00000370269.3_Missense_Mutation_p.L310F|FAM178A_ENST00000370271.3_Missense_Mutation_p.L310F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		AAATGGACATCTCTCAAGAAA	0.318000													19	53					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957381	50957381	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:50957381C>G	ENST00000357701.5	+	17	1905	c.1854C>G	c.(1852-1854)atC>atG	p.I618M		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	618	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCTACACCATCAAGGTCACCA	0.622000													14	14					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39108050	39108050	+	Silent	SNP	G	G	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:39108050G>T	ENST00000591517.1	-	3	220	c.192C>A	c.(190-192)ctC>ctA	p.L64L	MAP4K1_ENST00000589130.1_Silent_p.L60L|MAP4K1_ENST00000586296.1_Silent_p.L64L|MAP4K1_ENST00000396857.2_Silent_p.L64L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	64	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTTTCAATATGAGGATTTCCT	0.562000													9	65					3.07112e-06	3.19675e-06	1	1	0
MMP10	4319	broad.mit.edu	37	11	102650261	102650261	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:102650261C>G	ENST00000279441.4	-	2	357	c.321G>C	c.(319-321)aaG>aaC	p.K107N		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	107					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TTTTCCTCCACTTCGGCATGC	0.443000													5	33					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67318244	67318244	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr16:67318244C>A	ENST00000360461.5	+	11	4111	c.1576C>A	c.(1576-1578)Ccc>Acc	p.P526T	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P445T|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P526T|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P526T	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	526					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGAACTGGACCCCCCTGGGGC	0.647000													6	11					0.0293803	0.0297703	1	1	0
LPP	4026	broad.mit.edu	37	3	188327108	188327108	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:188327108G>A	ENST00000312675.4	+	6	835	c.589G>A	c.(589-591)Gga>Aga	p.G197R	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.G197R|LPP_ENST00000448637.1_Missense_Mutation_p.G197R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	197	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGCTCCAATCGGAACACTCAA	0.567000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								55	89					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40270320	40270320	+	Missense_Mutation	SNP	C	C	T	rs147662719		TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr17:40270320C>T	ENST00000225916.5	-	7	1228	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	392					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATACCTGGCCGGGGAACCAG	0.617000													28	36					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160430048	160430048	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:160430048C>G	ENST00000356956.1	+	3	444	c.296C>G	c.(295-297)tCt>tGt	p.S99C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	99					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATAGGTGACTCTGTTTTGAGA	0.403000													23	55					0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37170556	37170556	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr3:37170556C>T	ENST00000421307.1	-	4	597	c.175G>A	c.(175-177)Gag>Aag	p.E59K	LRRFIP2_ENST00000440230.1_Missense_Mutation_p.E59K|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.E59K|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.E59K|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.E59K|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.E59K	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	59	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CAAATTACCTCTTTTTGTTGT	0.418000													10	120					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803166	157803166	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr1:157803166C>T	ENST00000368174.4	-	5	951	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	285	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCCACAGCCCAGTTGCTTGC	0.587000													28	70					0	0	1	0	0
AGPAT6	137964	broad.mit.edu	37	8	41476220	41476220	+	Silent	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr8:41476220C>T	ENST00000396987.3	+	11	1998	c.1071C>T	c.(1069-1071)ggC>ggT	p.G357G	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	357					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTCAATTTGGCGATGCCTTCT	0.517000													4	85					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64822077	64822077	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:64822077C>T	ENST00000358658.3	-	5	764	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	NAALADL1_ENST00000339885.2_Missense_Mutation_p.R246Q|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R246Q|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R205Q|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R246Q|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R246Q	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	246					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R246Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GTAGGAGCCTCGCTCCACTCC	0.597000											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	6	15					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66054005	66054005	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr6:66054005C>T	ENST00000503581.1	-	10	2062	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	EYS_ENST00000370621.3_Missense_Mutation_p.E509K|EYS_ENST00000393380.2_Missense_Mutation_p.E509K|EYS_ENST00000370618.3_Missense_Mutation_p.E509K|EYS_ENST00000342421.5_Missense_Mutation_p.E509K|EYS_ENST00000370616.2_Missense_Mutation_p.E509K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	509					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTGCATCTTCAGTGCAGTTT	0.353000													14	27					0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100593087	100593087	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr14:100593087G>A	ENST00000544450.2	+	5	761	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	EVL_ENST00000402714.2_Missense_Mutation_p.E154K|EVL_ENST00000392920.3_Missense_Mutation_p.E156K			Q9UI08	EVL_HUMAN	Enah/Vasp-like	154					actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGAATCTCTAGAAAGAAGAAC	0.597000													28	26					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													9	14	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48269547	48269548	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:48269547_48269548insCA	ENST00000435803.1	+	7	782_783	c.758_759insCA	c.(757-762)gtcaccfs	p.VT253fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	253					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAGTAGCAGTCACCGGTATGG	0.386													19	45	---	---	---	---					
SND1	27044	broad.mit.edu	37	7	127343360	127343361	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr7:127343360_127343361insT	ENST00000354725.3	+	7	1017_1018	c.823_824insT	c.(823-825)ggtfs	p.G275fs		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	275	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAACATTCTGGGTACCATCCTT	0.485													19	50	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61536748	61536748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:61536748delC	ENST00000278836.5	+	4	511	c.415delC	c.(415-417)cccfs	p.P140fs	MYRF_ENST00000265460.5_Frame_Shift_Del_p.P131fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GCCGGACTCTCCCCCAGACTC	0.677													2	4	---	---	---	---					
PACS1	55690	broad.mit.edu	37	11	65838059	65838061	+	In_Frame_Del	DEL	GCA	GCA	-	rs75352646		TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr11:65838059_65838061delGCA	ENST00000320580.4	+	1	135_137	c.102_104delGCA	c.(100-105)ccgcag>ccg	p.Q40del		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	40	Gly-rich.|Poly-Gln.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						agccgccgccgcagcagcagcag	0.793													2	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49037940	49037950	+	Frame_Shift_Del	DEL	CATACAAGGAT	CATACAAGGAT	-	rs150600740		TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr13:49037940_49037950delCATACAAGGAT	ENST00000267163.4	+	21	2318_2328	c.2180_2190delCATACAAGGAT	c.(2179-2190)gcatacaaggatfs	p.AYKD727fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	727	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.Y728C(1)|p.Y728*(1)|p.C712_A727del(1)|p.D730fs*14(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTGTAACAGCATACAAGGATCTTCCTCATG	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			23	27	---	---	---	---					
KDM4B	23030	broad.mit.edu	37	19	5144270	5144270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:5144270delG	ENST00000159111.4	+	20	2966	c.2748delG	c.(2746-2748)ctgfs	p.L916fs	KDM4B_ENST00000536461.1_Frame_Shift_Del_p.L950fs	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	916					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCCAACTCCTGAGGGCCGTGT	0.706													2	4	---	---	---	---					
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G	rs11375503		TCGA-FD-A6TH-01A-11D-A32B-08	TCGA-FD-A6TH-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb35ce1d-2b04-49c9-a8fb-c1b87fd70ff7	ec01f1a6-4386-4d6d-bc3f-298bf493c28a	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)ccafs	p.P599fs	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													7	50	---	---	---	---